{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"O00255","secondaryAccessions":["A5HBC6","A5HBC7","A5HBC8","A5HBC9","A5HBD0","A5HBD1","A5HBD2","O00632","Q9BUF0","Q9BUK2"],"uniProtkbId":"MEN1_HUMAN","entryAudit":{"firstPublicDate":"1998-12-15","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2023-11-08","entryVersion":231,"sequenceVersion":5},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Menin"}}},"genes":[{"geneName":{"value":"MEN1"},"synonyms":[{"value":"SCG2"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"O88559"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11274402"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11526476"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12837246"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12874027"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14992727"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"}],"value":"Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved in normal hematopoiesis through the activation of HOXA9 expression (By similarity). May be involved in DNA repair"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11274402"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11526476"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12874027"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14992727"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15199122"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15374998"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17500065"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22936661"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25305204"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9989505"}],"value":"Component of the MLL-HCF complex, at least composed of KMT2A/MLL1, MEN1, ASH2L, RBBP5, DPY30, WDR5, HCFC1 and HCFC2. Component of the menin-associated histone methyltransferase complex, at least composed of KMT2B/MLL4, MEN1, ASH2L, RBBP5, DPY30 and WDR5. Interacts with POLR2B. Interacts with POLR2A phosphorylated at 'Ser-5', but not with the unphosphorylated, nor 'Ser-2' phosphorylated POLR2A forms. Interacts with FANCD2 and DBF4. Interacts with JUND (via MBM motif); inhibits the interaction of JUND with MAPK10 and the phosphorylation of JUND by MAP kinases MAPK8 and MAPK10 (PubMed:22327296, PubMed:9989505). Interacts with SMAD3, but not with SMAD2, nor SMAD4. Directly interacts with NFKB1, NFKB2 and RELA. Interacts with KMT2A (via MBM motif) (PubMed:22327296, PubMed:22936661, PubMed:25305204). The KMT2A-MEN1 complex interacts with PSIP1 with a greater affinity as MEN1 enhances interaction of KMT2A with PSIP1 (PubMed:22327296, PubMed:25305204). Interacts with the fusion protein KMT2A-MLLT3 (PubMed:22936661, PubMed:25305204)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"O00255","intActId":"EBI-592789"},"interactantTwo":{"uniProtKBAccession":"P15056","geneName":"BRAF","intActId":"EBI-365980"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O00255","intActId":"EBI-592789"},"interactantTwo":{"uniProtKBAccession":"Q9BXW9","geneName":"FANCD2","intActId":"EBI-359343"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O00255","intActId":"EBI-592789"},"interactantTwo":{"uniProtKBAccession":"P35579","geneName":"MYH9","intActId":"EBI-350338"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O00255","intActId":"EBI-592789"},"interactantTwo":{"uniProtKBAccession":"P19838","geneName":"NFKB1","chainId":"PRO_0000030311","intActId":"EBI-697771"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O00255","intActId":"EBI-592789"},"interactantTwo":{"uniProtKBAccession":"P61964","geneName":"WDR5","intActId":"EBI-540834"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O00255-2","intActId":"EBI-9869387"},"interactantTwo":{"uniProtKBAccession":"P17535","geneName":"JUND","intActId":"EBI-2682803"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O00255-2","intActId":"EBI-9869387"},"interactantTwo":{"uniProtKBAccession":"Q03164","geneName":"KMT2A","intActId":"EBI-591370"},"numberOfExperiments":12,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O00255-2","intActId":"EBI-9869387"},"interactantTwo":{"uniProtKBAccession":"P35579","geneName":"MYH9","intActId":"EBI-350338"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O00255-2","intActId":"EBI-9869387"},"interactantTwo":{"uniProtKBAccession":"P19838","geneName":"NFKB1","chainId":"PRO_0000030311","intActId":"EBI-697771"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O00255-2","intActId":"EBI-9869387"},"interactantTwo":{"uniProtKBAccession":"Q00653","geneName":"NFKB2","chainId":"PRO_0000030322","intActId":"EBI-9869360"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O00255-2","intActId":"EBI-9869387"},"interactantTwo":{"uniProtKBAccession":"Q04206","geneName":"RELA","intActId":"EBI-73886"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O00255-2","intActId":"EBI-9869387"},"interactantTwo":{"uniProtKBAccession":"Q05982","geneName":"Nme1","intActId":"EBI-1165329"},"numberOfExperiments":5,"organismDiffer":true}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"value":"Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12874027"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"synonyms":[{"value":"Short"}],"isoformIds":["O00255-2"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"synonyms":[{"value":"Long"}],"isoformIds":["O00255-1"],"sequenceIds":["VSP_062035"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["O00255-3"],"sequenceIds":["VSP_004323","VSP_015854"],"isoformSequenceStatus":"Described"}]},{"texts":[{"value":"Ubiquitous"}],"commentType":"TISSUE SPECIFICITY"},{"commentType":"DISEASE","disease":{"diseaseId":"Familial multiple endocrine neoplasia type I","diseaseAccession":"DI-01593","acronym":"MEN1","description":"Autosomal dominant disorder characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia.","diseaseCrossReference":{"database":"MIM","id":"131100"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10090472"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10229909"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10534569"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10576763"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10617276"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10660339"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10664520"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10849016"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10993647"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11102994"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11134142"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11241849"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12050235"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12417605"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12652570"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12699448"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12746426"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12791038"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14686752"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14992727"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15714081"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15730416"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17555499"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9103196"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9215689"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9215690"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9463336"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9506756"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9671267"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9683585"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9709921"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9709976"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9709985"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9740255"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9747036"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9820618"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9832038"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9888389"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9989505"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10634381"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10664521"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12016470"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12699448"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9792884"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9843042"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9888389"}],"value":"MEN1 inactivating mutations are responsible for hyperfunctioning of the parathyroid glands and subsequent primary hyperparathyroidism. Primary hyperparathyroidism can occur in isolation or in association with multiple endocrine neoplasia"}]}},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Frameshift","sequence":"ABQ12624.1","note":"The frameshift is caused by a single nucleotide deletion which is found in a MEN1 kindred.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Frameshift","sequence":"ABQ12627.1","note":"The frameshift is caused by a single nucleotide deletion which is found in a MEN1 kindred.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"WEB RESOURCE","resourceName":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","resourceUrl":"https://atlasgeneticsoncology.org/gene/148/MEN1","ftp":false}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":610,"modifier":"EXACT"}},"description":"Menin","featureId":"PRO_0000096411"},{"type":"Region","location":{"start":{"value":214,"modifier":"EXACT"},"end":{"value":390,"modifier":"EXACT"}},"description":"Interaction with FANCD2","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12874027"}]},{"type":"Region","location":{"start":{"value":460,"modifier":"EXACT"},"end":{"value":552,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":484,"modifier":"EXACT"},"end":{"value":500,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Modified residue","location":{"start":{"value":487,"modifier":"EXACT"},"end":{"value":487,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"24275569"}]},{"type":"Modified residue","location":{"start":{"value":543,"modifier":"EXACT"},"end":{"value":543,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":594,"modifier":"EXACT"},"end":{"value":594,"modifier":"EXACT"}},"description":"Phosphothreonine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"18669648"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Alternative sequence","location":{"start":{"value":148,"modifier":"EXACT"},"end":{"value":148,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9103196"}],"featureId":"VSP_062035","alternativeSequence":{"originalSequence":"T","alternativeSequences":["TGWSPV"]}},{"type":"Alternative sequence","location":{"start":{"value":148,"modifier":"EXACT"},"end":{"value":148,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9103196"}],"featureId":"VSP_004323","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":184,"modifier":"EXACT"},"end":{"value":218,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_015854","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":12,"modifier":"EXACT"},"end":{"value":12,"modifier":"EXACT"}},"description":"in MEN1; no effect on histone methylation; almost no effect on JUND-binding; dbSNP:rs794728614","featureCrossReferences":[{"database":"dbSNP","id":"rs794728614"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14992727"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9989505"}],"featureId":"VAR_005425","alternativeSequence":{"originalSequence":"P","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":22,"modifier":"EXACT"},"end":{"value":22,"modifier":"EXACT"}},"description":"in MEN1; no effect on histone methylation; almost no effect on JUND-binding; no repression of JUND transactivation; dbSNP:rs104894256","featureCrossReferences":[{"database":"dbSNP","id":"rs104894256"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14992727"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9103196"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9989505"}],"featureId":"VAR_005426","alternativeSequence":{"originalSequence":"L","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":26,"modifier":"EXACT"},"end":{"value":26,"modifier":"EXACT"}},"description":"in parathyroid adenoma and MEN1; dbSNP:rs28931612","featureCrossReferences":[{"database":"dbSNP","id":"rs28931612"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9241276"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9820618"}],"featureId":"VAR_005427","alternativeSequence":{"originalSequence":"E","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":39,"modifier":"EXACT"},"end":{"value":39,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10849016"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9888389"}],"featureId":"VAR_005428","alternativeSequence":{"originalSequence":"L","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":42,"modifier":"EXACT"},"end":{"value":42,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9463336"}],"featureId":"VAR_005429","alternativeSequence":{"originalSequence":"G","alternativeSequences":["D"]}},{"type":"Natural variant","location":{"start":{"value":45,"modifier":"EXACT"},"end":{"value":45,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1592660101","featureCrossReferences":[{"database":"dbSNP","id":"rs1592660101"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9832038"}],"featureId":"VAR_005430","alternativeSequence":{"originalSequence":"E","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":45,"modifier":"EXACT"},"end":{"value":45,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1114167491","featureCrossReferences":[{"database":"dbSNP","id":"rs1114167491"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10664520"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12746426"}],"featureId":"VAR_039587","alternativeSequence":{"originalSequence":"E","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":89,"modifier":"EXACT"},"end":{"value":95,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17555499"}],"featureId":"VAR_065152","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":98,"modifier":"EXACT"},"end":{"value":98,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"}],"featureId":"VAR_039588","alternativeSequence":{"originalSequence":"R","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":110,"modifier":"EXACT"},"end":{"value":110,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1389398299","featureCrossReferences":[{"database":"dbSNP","id":"rs1389398299"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15730416"}],"featureId":"VAR_039589","alternativeSequence":{"originalSequence":"G","alternativeSequences":["E"]}},{"type":"Natural variant","location":{"start":{"value":119,"modifier":"EXACT"},"end":{"value":119,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10849016"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12050235"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9103196"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9747036"}],"featureId":"VAR_005431","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":135,"modifier":"EXACT"},"end":{"value":135,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9740255"}],"featureId":"VAR_005434","alternativeSequence":{"originalSequence":"K","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":139,"modifier":"EXACT"},"end":{"value":139,"modifier":"EXACT"}},"description":"in MEN1; almost complete loss of histone methylation; strong decrease in JUND-binding; no repression of JUND transactivation; reduced interaction with KMT2A; dbSNP:rs104894263","featureCrossReferences":[{"database":"dbSNP","id":"rs104894263"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11134142"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14992727"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9709976"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9989505"}],"featureId":"VAR_005432","alternativeSequence":{"originalSequence":"H","alternativeSequences":["D"]}},{"type":"Natural variant","location":{"start":{"value":139,"modifier":"EXACT"},"end":{"value":139,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12746426"}],"featureId":"VAR_039590","alternativeSequence":{"originalSequence":"H","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":139,"modifier":"EXACT"},"end":{"value":139,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1114167515","featureCrossReferences":[{"database":"dbSNP","id":"rs1114167515"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10617276"}],"featureId":"VAR_039591","alternativeSequence":{"originalSequence":"H","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":139,"modifier":"EXACT"},"end":{"value":139,"modifier":"EXACT"}},"description":"in MEN1; familial and sporadic cases; almost no effect on JUND-binding; no repression of JUND transactivation","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9989505"}],"featureId":"VAR_005433","alternativeSequence":{"originalSequence":"H","alternativeSequences":["Y"]}},{"type":"Natural variant","location":{"start":{"value":144,"modifier":"EXACT"},"end":{"value":144,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1114167543","featureCrossReferences":[{"database":"dbSNP","id":"rs1114167543"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15714081"}],"featureId":"VAR_005436","alternativeSequence":{"originalSequence":"F","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":147,"modifier":"EXACT"},"end":{"value":147,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17555499"}],"featureId":"VAR_065153","alternativeSequence":{"originalSequence":"I","alternativeSequences":["F"]}},{"type":"Natural variant","location":{"start":{"value":152,"modifier":"EXACT"},"end":{"value":152,"modifier":"EXACT"}},"description":"in parathyroid tumors; somatic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9709976"}],"featureId":"VAR_065154","alternativeSequence":{"originalSequence":"L","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":153,"modifier":"EXACT"},"end":{"value":153,"modifier":"EXACT"}},"description":"in MEN1; also found in isolated hyperparathyroidism; dbSNP:rs1565648789","featureCrossReferences":[{"database":"dbSNP","id":"rs1565648789"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12699448"}],"featureId":"VAR_039592","alternativeSequence":{"originalSequence":"D","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":154,"modifier":"EXACT"},"end":{"value":154,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1941873896","featureCrossReferences":[{"database":"dbSNP","id":"rs1941873896"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12050235"}],"featureId":"VAR_039593","alternativeSequence":{"originalSequence":"S","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":155,"modifier":"EXACT"},"end":{"value":155,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10534569"}],"featureId":"VAR_039594","alternativeSequence":{"originalSequence":"S","alternativeSequences":["F"]}},{"type":"Natural variant","location":{"start":{"value":156,"modifier":"EXACT"},"end":{"value":156,"modifier":"EXACT"}},"description":"in MEN1 and parathyroid tumor; dbSNP:rs794728648","featureCrossReferences":[{"database":"dbSNP","id":"rs794728648"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10090472"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11034102"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15714081"}],"featureId":"VAR_008017","alternativeSequence":{"originalSequence":"G","alternativeSequences":["D"]}},{"type":"Natural variant","location":{"start":{"value":160,"modifier":"EXACT"},"end":{"value":160,"modifier":"EXACT"}},"description":"in MEN1; strong decrease in JUND-binding; dbSNP:rs1565648656","featureCrossReferences":[{"database":"dbSNP","id":"rs1565648656"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9463336"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9989505"}],"featureId":"VAR_005437","alternativeSequence":{"originalSequence":"A","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":160,"modifier":"EXACT"},"end":{"value":160,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"}],"featureId":"VAR_039595","alternativeSequence":{"originalSequence":"A","alternativeSequences":["T"]}},{"type":"Natural variant","location":{"start":{"value":162,"modifier":"EXACT"},"end":{"value":162,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"}],"featureId":"VAR_039596","alternativeSequence":{"originalSequence":"V","alternativeSequences":["F"]}},{"type":"Natural variant","location":{"start":{"value":164,"modifier":"EXACT"},"end":{"value":164,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9463336"}],"featureId":"VAR_005438","alternativeSequence":{"originalSequence":"A","alternativeSequences":["D"]}},{"type":"Natural variant","location":{"start":{"value":165,"modifier":"EXACT"},"end":{"value":165,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12652570"}],"featureId":"VAR_039597","alternativeSequence":{"originalSequence":"C","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":166,"modifier":"EXACT"},"end":{"value":168,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9747036"}],"featureId":"VAR_005439","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":168,"modifier":"EXACT"},"end":{"value":168,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs386134256","featureCrossReferences":[{"database":"dbSNP","id":"rs386134256"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9820618"}],"featureId":"VAR_039598","alternativeSequence":{"originalSequence":"L","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":171,"modifier":"EXACT"},"end":{"value":171,"modifier":"EXACT"}},"description":"in dbSNP:rs607969","featureCrossReferences":[{"database":"dbSNP","id":"rs607969"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12746426"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15205994"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9103196"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9215690"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9709921"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9888389"}],"featureId":"VAR_005440","alternativeSequence":{"originalSequence":"R","alternativeSequences":["Q"]}},{"type":"Natural variant","location":{"start":{"value":172,"modifier":"EXACT"},"end":{"value":172,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1114167494","featureCrossReferences":[{"database":"dbSNP","id":"rs1114167494"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9888389"}],"featureId":"VAR_005441","alternativeSequence":{"originalSequence":"D","alternativeSequences":["Y"]}},{"type":"Natural variant","location":{"start":{"value":176,"modifier":"EXACT"},"end":{"value":176,"modifier":"EXACT"}},"description":"in MEN1; loss of JUND-binding; dbSNP:rs376872829","featureCrossReferences":[{"database":"dbSNP","id":"rs376872829"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9989505"}],"featureId":"VAR_005442","alternativeSequence":{"originalSequence":"A","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":179,"modifier":"EXACT"},"end":{"value":179,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1555165811","featureCrossReferences":[{"database":"dbSNP","id":"rs1555165811"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15714081"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9888389"}],"featureId":"VAR_005443","alternativeSequence":{"originalSequence":"E","alternativeSequences":["D"]}},{"type":"Natural variant","location":{"start":{"value":179,"modifier":"EXACT"},"end":{"value":179,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1064793167","featureCrossReferences":[{"database":"dbSNP","id":"rs1064793167"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11102994"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15714081"}],"featureId":"VAR_039599","alternativeSequence":{"originalSequence":"E","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":179,"modifier":"EXACT"},"end":{"value":179,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10849016"}],"featureId":"VAR_039600","alternativeSequence":{"originalSequence":"E","alternativeSequences":["Q"]}},{"type":"Natural variant","location":{"start":{"value":181,"modifier":"EXACT"},"end":{"value":181,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1941861451","featureCrossReferences":[{"database":"dbSNP","id":"rs1941861451"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15714081"}],"featureId":"VAR_039601","alternativeSequence":{"originalSequence":"H","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":183,"modifier":"EXACT"},"end":{"value":183,"modifier":"EXACT"}},"description":"in MEN1 and parathyroid tumor; dbSNP:rs1555165791","featureCrossReferences":[{"database":"dbSNP","id":"rs1555165791"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10576763"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11034102"}],"featureId":"VAR_039602","alternativeSequence":{"originalSequence":"W","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":183,"modifier":"EXACT"},"end":{"value":183,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9215690"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9463336"}],"featureId":"VAR_005444","alternativeSequence":{"originalSequence":"W","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":184,"modifier":"EXACT"},"end":{"value":184,"modifier":"EXACT"}},"description":"found in isolated hyperparathyroidism; likely pathogenic; dbSNP:rs104894262","featureCrossReferences":[{"database":"dbSNP","id":"rs104894262"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9843042"}],"featureId":"VAR_005445","alternativeSequence":{"originalSequence":"V","alternativeSequences":["E"]}},{"type":"Natural variant","location":{"start":{"value":215,"modifier":"EXACT"},"end":{"value":215,"modifier":"EXACT"}},"description":"found in a parathyroid carcinoma sample; somatic mutation","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17555500"}],"featureId":"VAR_064937","alternativeSequence":{"originalSequence":"V","alternativeSequences":["F"]}},{"type":"Natural variant","location":{"start":{"value":215,"modifier":"EXACT"},"end":{"value":215,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs794728621","featureCrossReferences":[{"database":"dbSNP","id":"rs794728621"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10664520"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15714081"}],"featureId":"VAR_039603","alternativeSequence":{"originalSequence":"V","alternativeSequences":["M"]}},{"type":"Natural variant","location":{"start":{"value":223,"modifier":"EXACT"},"end":{"value":223,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs886039415","featureCrossReferences":[{"database":"dbSNP","id":"rs886039415"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10849016"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12652570"}],"featureId":"VAR_005446","alternativeSequence":{"originalSequence":"L","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":225,"modifier":"EXACT"},"end":{"value":225,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1057521110","featureCrossReferences":[{"database":"dbSNP","id":"rs1057521110"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10576763"}],"featureId":"VAR_039604","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":229,"modifier":"EXACT"},"end":{"value":229,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10993647"}],"featureId":"VAR_039605","alternativeSequence":{"originalSequence":"R","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":240,"modifier":"EXACT"},"end":{"value":240,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"}],"featureId":"VAR_039606","alternativeSequence":{"originalSequence":"V","alternativeSequences":["F"]}},{"type":"Natural variant","location":{"start":{"value":241,"modifier":"EXACT"},"end":{"value":241,"modifier":"EXACT"}},"description":"in MEN1; loss of interaction with KMT2A and JUND","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12652570"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"}],"featureId":"VAR_039607","alternativeSequence":{"originalSequence":"C","alternativeSequences":["F"]}},{"type":"Natural variant","location":{"start":{"value":241,"modifier":"EXACT"},"end":{"value":241,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1592649108","featureCrossReferences":[{"database":"dbSNP","id":"rs1592649108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10090472"}],"featureId":"VAR_008018","alternativeSequence":{"originalSequence":"C","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":241,"modifier":"EXACT"},"end":{"value":241,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs794728624","featureCrossReferences":[{"database":"dbSNP","id":"rs794728624"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10576763"}],"featureId":"VAR_039608","alternativeSequence":{"originalSequence":"C","alternativeSequences":["Y"]}},{"type":"Natural variant","location":{"start":{"value":242,"modifier":"EXACT"},"end":{"value":242,"modifier":"EXACT"}},"description":"in MEN1; almost complete loss of histone methylation; loss of JUND-binding; no repression of JUND transactivation; reduced interaction with KMT2A","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14992727"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9989505"}],"featureId":"VAR_005447","alternativeSequence":{"originalSequence":"A","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":253,"modifier":"EXACT"},"end":{"value":253,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10576763"}],"featureId":"VAR_039609","alternativeSequence":{"originalSequence":"S","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":253,"modifier":"EXACT"},"end":{"value":253,"modifier":"EXACT"}},"description":"in parathyroid tumor; dbSNP:rs386134259","featureCrossReferences":[{"database":"dbSNP","id":"rs386134259"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11034102"}],"featureId":"VAR_039610","alternativeSequence":{"originalSequence":"S","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":255,"modifier":"EXACT"},"end":{"value":255,"modifier":"EXACT"}},"description":"found in isolated hyperparathyroidism; likely pathogenic; dbSNP:rs104894268","featureCrossReferences":[{"database":"dbSNP","id":"rs104894268"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9792884"}],"featureId":"VAR_005448","alternativeSequence":{"originalSequence":"E","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":259,"modifier":"EXACT"},"end":{"value":259,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15714081"}],"featureId":"VAR_039611","alternativeSequence":{"originalSequence":"L","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":260,"modifier":"EXACT"},"end":{"value":260,"modifier":"EXACT"}},"description":"found in isolated hyperparathyroidism; likely pathogenic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10634381"}],"featureId":"VAR_039612","alternativeSequence":{"originalSequence":"Q","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":261,"modifier":"EXACT"},"end":{"value":261,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12417605"}],"featureId":"VAR_039613","alternativeSequence":{"originalSequence":"Q","alternativeSequences":["QLQ"]}},{"type":"Natural variant","location":{"start":{"value":264,"modifier":"EXACT"},"end":{"value":264,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1941794175","featureCrossReferences":[{"database":"dbSNP","id":"rs1941794175"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9888389"}],"featureId":"VAR_005449","alternativeSequence":{"originalSequence":"L","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":267,"modifier":"EXACT"},"end":{"value":267,"modifier":"EXACT"}},"description":"found in isolated hyperparathyroidism; likely pathogenic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9888389"}],"featureId":"VAR_005450","alternativeSequence":{"originalSequence":"L","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":274,"modifier":"EXACT"},"end":{"value":274,"modifier":"EXACT"}},"description":"in parathyroid tumor","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11034102"}],"featureId":"VAR_039614","alternativeSequence":{"originalSequence":"E","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":277,"modifier":"EXACT"},"end":{"value":277,"modifier":"EXACT"}},"description":"found in isolated hyperparathyroidism; likely pathogenic; dbSNP:rs1060499973","featureCrossReferences":[{"database":"dbSNP","id":"rs1060499973"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12016470"}],"featureId":"VAR_039615","alternativeSequence":{"originalSequence":"P","alternativeSequences":["H"]}},{"type":"Natural variant","location":{"start":{"value":281,"modifier":"EXACT"},"end":{"value":281,"modifier":"EXACT"}},"description":"in MEN1; loss of interaction with KMT2A and JUND; dbSNP:rs1114167493","featureCrossReferences":[{"database":"dbSNP","id":"rs1114167493"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12652570"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"}],"featureId":"VAR_039616","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":284,"modifier":"EXACT"},"end":{"value":284,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1565645563","featureCrossReferences":[{"database":"dbSNP","id":"rs1565645563"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9463336"}],"featureId":"VAR_005451","alternativeSequence":{"originalSequence":"A","alternativeSequences":["E"]}},{"type":"Natural variant","location":{"start":{"value":284,"modifier":"EXACT"},"end":{"value":284,"modifier":"EXACT"}},"description":"in parathyroid tumor","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11034102"}],"featureId":"VAR_039617","alternativeSequence":{"originalSequence":"A","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":284,"modifier":"EXACT"},"end":{"value":284,"modifier":"EXACT"}},"description":"yields insoluble protein; requires 2 nucleotide substitutions","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"}],"featureId":"VAR_082607","alternativeSequence":{"originalSequence":"A","alternativeSequences":["Q"]}},{"type":"Natural variant","location":{"start":{"value":286,"modifier":"EXACT"},"end":{"value":286,"modifier":"EXACT"}},"description":"in MEN1; almost no effect on JUND-binding","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9989505"}],"featureId":"VAR_005452","alternativeSequence":{"originalSequence":"L","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":305,"modifier":"EXACT"},"end":{"value":305,"modifier":"EXACT"}},"description":"found in isolated hyperparathyroidism; likely pathogenic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10664521"}],"featureId":"VAR_039618","alternativeSequence":{"originalSequence":"G","alternativeSequences":["D"]}},{"type":"Natural variant","location":{"start":{"value":309,"modifier":"EXACT"},"end":{"value":309,"modifier":"EXACT"}},"description":"in MEN1; no effect on histone methylation; almost no effect on JUND-binding","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14992727"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9989505"}],"featureId":"VAR_005453","alternativeSequence":{"originalSequence":"A","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":311,"modifier":"EXACT"},"end":{"value":311,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12652570"}],"featureId":"VAR_039619","alternativeSequence":{"originalSequence":"T","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":314,"modifier":"EXACT"},"end":{"value":314,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"}],"featureId":"VAR_005454","alternativeSequence":{"originalSequence":"R","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":317,"modifier":"EXACT"},"end":{"value":317,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1114167495","featureCrossReferences":[{"database":"dbSNP","id":"rs1114167495"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10849016"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"}],"featureId":"VAR_039620","alternativeSequence":{"originalSequence":"H","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":317,"modifier":"EXACT"},"end":{"value":317,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12652570"}],"featureId":"VAR_039621","alternativeSequence":{"originalSequence":"H","alternativeSequences":["Y"]}},{"type":"Natural variant","location":{"start":{"value":320,"modifier":"EXACT"},"end":{"value":320,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1114167469","featureCrossReferences":[{"database":"dbSNP","id":"rs1114167469"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9506756"}],"featureId":"VAR_039622","alternativeSequence":{"originalSequence":"P","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":320,"modifier":"EXACT"},"end":{"value":320,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15714081"}],"featureId":"VAR_039623","alternativeSequence":{"originalSequence":"P","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":325,"modifier":"EXACT"},"end":{"value":325,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12791038"}],"featureId":"VAR_039624","alternativeSequence":{"originalSequence":"A","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":337,"modifier":"EXACT"},"end":{"value":337,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs2071312","featureCrossReferences":[{"database":"dbSNP","id":"rs2071312"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"}],"featureId":"VAR_005455","alternativeSequence":{"originalSequence":"A","alternativeSequences":["D"]}},{"type":"Natural variant","location":{"start":{"value":337,"modifier":"EXACT"},"end":{"value":337,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs2071312","featureCrossReferences":[{"database":"dbSNP","id":"rs2071312"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10849016"}],"featureId":"VAR_039625","alternativeSequence":{"originalSequence":"A","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":341,"modifier":"EXACT"},"end":{"value":341,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"}],"featureId":"VAR_005456","alternativeSequence":{"originalSequence":"W","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":342,"modifier":"EXACT"},"end":{"value":342,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs776561706","featureCrossReferences":[{"database":"dbSNP","id":"rs776561706"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14686752"}],"featureId":"VAR_039626","alternativeSequence":{"originalSequence":"A","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":344,"modifier":"EXACT"},"end":{"value":344,"modifier":"EXACT"}},"description":"in MEN1; almost complete loss of histone methylation; almost no effect on JUND-binding; yields insoluble protein","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10664520"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14992727"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9989505"}],"featureId":"VAR_005457","alternativeSequence":{"originalSequence":"T","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":348,"modifier":"EXACT"},"end":{"value":348,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10849016"}],"featureId":"VAR_039627","alternativeSequence":{"originalSequence":"I","alternativeSequences":["N"]}},{"type":"Natural variant","location":{"start":{"value":353,"modifier":"EXACT"},"end":{"value":353,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10993647"}],"featureId":"VAR_039628","alternativeSequence":{"originalSequence":"Y","alternativeSequences":["D"]}},{"type":"Natural variant","location":{"start":{"value":355,"modifier":"EXACT"},"end":{"value":355,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs863224807","featureCrossReferences":[{"database":"dbSNP","id":"rs863224807"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15714081"}],"featureId":"VAR_039629","alternativeSequence":{"originalSequence":"R","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":357,"modifier":"EXACT"},"end":{"value":357,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"}],"featureId":"VAR_039630","alternativeSequence":{"originalSequence":"D","alternativeSequences":["H"]}},{"type":"Natural variant","location":{"start":{"value":359,"modifier":"EXACT"},"end":{"value":359,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs387906552","featureCrossReferences":[{"database":"dbSNP","id":"rs387906552"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9740255"}],"featureId":"VAR_005458","alternativeSequence":{"originalSequence":"E","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":363,"modifier":"EXACT"},"end":{"value":363,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs869025185","featureCrossReferences":[{"database":"dbSNP","id":"rs869025185"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12050235"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9103196"}],"featureId":"VAR_005459","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":368,"modifier":"EXACT"},"end":{"value":368,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1555164707","featureCrossReferences":[{"database":"dbSNP","id":"rs1555164707"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"}],"featureId":"VAR_005460","alternativeSequence":{"originalSequence":"A","alternativeSequences":["D"]}},{"type":"Natural variant","location":{"start":{"value":372,"modifier":"EXACT"},"end":{"value":372,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"}],"featureId":"VAR_039631","alternativeSequence":{"originalSequence":"I","alternativeSequences":["M"]}},{"type":"Natural variant","location":{"start":{"value":373,"modifier":"EXACT"},"end":{"value":373,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs794728627","featureCrossReferences":[{"database":"dbSNP","id":"rs794728627"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10993647"}],"featureId":"VAR_039632","alternativeSequence":{"originalSequence":"P","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":385,"modifier":"EXACT"},"end":{"value":385,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1298484645","featureCrossReferences":[{"database":"dbSNP","id":"rs1298484645"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10849016"}],"featureId":"VAR_039633","alternativeSequence":{"originalSequence":"A","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":411,"modifier":"EXACT"},"end":{"value":411,"modifier":"EXACT"}},"description":"in MEN1; also found in isolated hyperparathyroidism","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12699448"}],"featureId":"VAR_039634","alternativeSequence":{"originalSequence":"A","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":413,"modifier":"EXACT"},"end":{"value":413,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17555499"}],"featureId":"VAR_065155","alternativeSequence":{"originalSequence":"L","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":414,"modifier":"EXACT"},"end":{"value":414,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11241849"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17555499"}],"featureId":"VAR_039635","alternativeSequence":{"originalSequence":"L","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":415,"modifier":"EXACT"},"end":{"value":415,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1446518998","featureCrossReferences":[{"database":"dbSNP","id":"rs1446518998"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10993647"}],"featureId":"VAR_039636","alternativeSequence":{"originalSequence":"R","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":418,"modifier":"EXACT"},"end":{"value":421,"modifier":"EXACT"}},"description":"in MEN1","featureId":"VAR_005463","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":418,"modifier":"EXACT"},"end":{"value":418,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs104894264","featureCrossReferences":[{"database":"dbSNP","id":"rs104894264"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15730416"}],"featureId":"VAR_039637","alternativeSequence":{"originalSequence":"D","alternativeSequences":["H"]}},{"type":"Natural variant","location":{"start":{"value":418,"modifier":"EXACT"},"end":{"value":418,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs104894264","featureCrossReferences":[{"database":"dbSNP","id":"rs104894264"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12050235"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12652570"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9709921"}],"featureId":"VAR_005461","alternativeSequence":{"originalSequence":"D","alternativeSequences":["N"]}},{"type":"Natural variant","location":{"start":{"value":418,"modifier":"EXACT"},"end":{"value":418,"modifier":"EXACT"}},"description":"in MEN1","featureId":"VAR_005462","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":421,"modifier":"EXACT"},"end":{"value":421,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs386134249","featureCrossReferences":[{"database":"dbSNP","id":"rs386134249"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15714081"}],"featureId":"VAR_039638","alternativeSequence":{"originalSequence":"C","alternativeSequences":["Y"]}},{"type":"Natural variant","location":{"start":{"value":423,"modifier":"EXACT"},"end":{"value":423,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9709985"}],"featureId":"VAR_039639","alternativeSequence":{"originalSequence":"W","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":427,"modifier":"EXACT"},"end":{"value":427,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1114167528","featureCrossReferences":[{"database":"dbSNP","id":"rs1114167528"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10660339"}],"featureId":"VAR_039640","alternativeSequence":{"originalSequence":"S","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":436,"modifier":"EXACT"},"end":{"value":436,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs398124435","featureCrossReferences":[{"database":"dbSNP","id":"rs398124435"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15714081"}],"featureId":"VAR_039641","alternativeSequence":{"originalSequence":"W","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":436,"modifier":"EXACT"},"end":{"value":436,"modifier":"EXACT"}},"description":"in MEN1; no effect on histone methylation; almost no effect on JUND-binding; modest repression of JUND transactivation; dbSNP:rs104894259","featureCrossReferences":[{"database":"dbSNP","id":"rs104894259"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14992727"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15714081"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9103196"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9989505"}],"featureId":"VAR_005464","alternativeSequence":{"originalSequence":"W","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":444,"modifier":"EXACT"},"end":{"value":444,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10229909"}],"featureId":"VAR_039642","alternativeSequence":{"originalSequence":"L","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":447,"modifier":"EXACT"},"end":{"value":447,"modifier":"EXACT"}},"description":"in MEN1; sporadic; with Zollinger-Ellison syndrome; dbSNP:rs1941604532","featureCrossReferences":[{"database":"dbSNP","id":"rs1941604532"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9215689"}],"featureId":"VAR_005465","alternativeSequence":{"originalSequence":"F","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":471,"modifier":"EXACT"},"end":{"value":471,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17555499"}],"featureId":"VAR_065156","alternativeSequence":{"originalSequence":"W","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":527,"modifier":"EXACT"},"end":{"value":527,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"}],"featureId":"VAR_039643","alternativeSequence":{"originalSequence":"R","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":540,"modifier":"EXACT"},"end":{"value":540,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs745404679","featureCrossReferences":[{"database":"dbSNP","id":"rs745404679"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12652570"}],"featureId":"VAR_039644","alternativeSequence":{"originalSequence":"P","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":541,"modifier":"EXACT"},"end":{"value":541,"modifier":"EXACT"}},"description":"in dbSNP:rs2959656","featureCrossReferences":[{"database":"dbSNP","id":"rs2959656"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10576763"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12746426"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17555499"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9103196"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9506756"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9709921"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9888389"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"19413330"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"19690332"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}],"featureId":"VAR_005466","alternativeSequence":{"originalSequence":"T","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":544,"modifier":"EXACT"},"end":{"value":544,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs1387157979","featureCrossReferences":[{"database":"dbSNP","id":"rs1387157979"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10849016"}],"featureId":"VAR_039645","alternativeSequence":{"originalSequence":"P","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":552,"modifier":"EXACT"},"end":{"value":552,"modifier":"EXACT"}},"description":"in adrenal adenoma; somatic; dbSNP:rs121913035","featureCrossReferences":[{"database":"dbSNP","id":"rs121913035"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10647896"}],"featureId":"VAR_039646","alternativeSequence":{"originalSequence":"T","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":555,"modifier":"EXACT"},"end":{"value":555,"modifier":"EXACT"}},"description":"in MEN1; dbSNP:rs863224527","featureCrossReferences":[{"database":"dbSNP","id":"rs863224527"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"}],"featureId":"VAR_005467","alternativeSequence":{"originalSequence":"S","alternativeSequences":["N"]}},{"type":"Natural variant","location":{"start":{"value":555,"modifier":"EXACT"},"end":{"value":555,"modifier":"EXACT"}},"description":"in MEN1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12112656"}],"featureId":"VAR_039647","alternativeSequence":{"originalSequence":"S","alternativeSequences":["R"]}},{"type":"Mutagenesis","location":{"start":{"value":182,"modifier":"EXACT"},"end":{"value":182,"modifier":"EXACT"}},"description":"Reduced interaction with KMT2A.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"}],"alternativeSequence":{"originalSequence":"A","alternativeSequences":["F"]}},{"type":"Mutagenesis","location":{"start":{"value":278,"modifier":"EXACT"},"end":{"value":278,"modifier":"EXACT"}},"description":"Loss of interaction with KMT2A and JUND.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"}],"alternativeSequence":{"originalSequence":"M","alternativeSequences":["W"]}},{"type":"Mutagenesis","location":{"start":{"value":285,"modifier":"EXACT"},"end":{"value":285,"modifier":"EXACT"}},"description":"Reduced interaction with KMT2A; when associated with R-288 and R-290.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"}],"alternativeSequence":{"originalSequence":"D","alternativeSequences":["R"]}},{"type":"Mutagenesis","location":{"start":{"value":288,"modifier":"EXACT"},"end":{"value":288,"modifier":"EXACT"}},"description":"Reduced interaction with KMT2A; when associated with R-285 and R-290.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"}],"alternativeSequence":{"originalSequence":"E","alternativeSequences":["R"]}},{"type":"Mutagenesis","location":{"start":{"value":290,"modifier":"EXACT"},"end":{"value":290,"modifier":"EXACT"}},"description":"Reduced interaction with KMT2A; when associated with R-285 and R-288.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"}],"alternativeSequence":{"originalSequence":"E","alternativeSequences":["R"]}},{"type":"Mutagenesis","location":{"start":{"value":319,"modifier":"EXACT"},"end":{"value":319,"modifier":"EXACT"}},"description":"Reduced interaction with KMT2A.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"}],"alternativeSequence":{"originalSequence":"Y","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":323,"modifier":"EXACT"},"end":{"value":323,"modifier":"EXACT"}},"description":"Reduced interaction with KMT2A.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"}],"alternativeSequence":{"originalSequence":"Y","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":366,"modifier":"EXACT"},"end":{"value":366,"modifier":"EXACT"}},"description":"Reduced interaction with KMT2A; when associated with A-370.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"}],"alternativeSequence":{"originalSequence":"E","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":370,"modifier":"EXACT"},"end":{"value":370,"modifier":"EXACT"}},"description":"Reduced interaction with KMT2A; when associated with A-366.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22327296"}],"alternativeSequence":{"originalSequence":"D","alternativeSequences":["A"]}},{"type":"Helix","location":{"start":{"value":5,"modifier":"EXACT"},"end":{"value":8,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":16,"modifier":"EXACT"},"end":{"value":27,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Beta strand","location":{"start":{"value":29,"modifier":"EXACT"},"end":{"value":31,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":34,"modifier":"EXACT"},"end":{"value":45,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":46,"modifier":"EXACT"},"end":{"value":50,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":66,"modifier":"EXACT"},"end":{"value":68,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9C92"}]},{"type":"Turn","location":{"start":{"value":70,"modifier":"EXACT"},"end":{"value":72,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3U84"}]},{"type":"Beta strand","location":{"start":{"value":76,"modifier":"EXACT"},"end":{"value":78,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9C4S"}]},{"type":"Helix","location":{"start":{"value":83,"modifier":"EXACT"},"end":{"value":100,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":103,"modifier":"EXACT"},"end":{"value":105,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":109,"modifier":"EXACT"},"end":{"value":111,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":112,"modifier":"EXACT"},"end":{"value":114,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7O9X"}]},{"type":"Helix","location":{"start":{"value":115,"modifier":"EXACT"},"end":{"value":127,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Beta strand","location":{"start":{"value":131,"modifier":"EXACT"},"end":{"value":133,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7UJ4"}]},{"type":"Beta strand","location":{"start":{"value":137,"modifier":"EXACT"},"end":{"value":139,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9C4S"}]},{"type":"Helix","location":{"start":{"value":143,"modifier":"EXACT"},"end":{"value":149,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":154,"modifier":"EXACT"},"end":{"value":167,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Beta strand","location":{"start":{"value":174,"modifier":"EXACT"},"end":{"value":177,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Beta strand","location":{"start":{"value":182,"modifier":"EXACT"},"end":{"value":187,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":188,"modifier":"EXACT"},"end":{"value":190,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Beta strand","location":{"start":{"value":192,"modifier":"EXACT"},"end":{"value":194,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Beta strand","location":{"start":{"value":200,"modifier":"EXACT"},"end":{"value":202,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":203,"modifier":"EXACT"},"end":{"value":205,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":212,"modifier":"EXACT"},"end":{"value":216,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":220,"modifier":"EXACT"},"end":{"value":225,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":232,"modifier":"EXACT"},"end":{"value":241,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Beta strand","location":{"start":{"value":246,"modifier":"EXACT"},"end":{"value":248,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":254,"modifier":"EXACT"},"end":{"value":270,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Turn","location":{"start":{"value":271,"modifier":"EXACT"},"end":{"value":275,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":277,"modifier":"EXACT"},"end":{"value":289,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":295,"modifier":"EXACT"},"end":{"value":297,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3U84"}]},{"type":"Helix","location":{"start":{"value":298,"modifier":"EXACT"},"end":{"value":312,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":319,"modifier":"EXACT"},"end":{"value":330,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":334,"modifier":"EXACT"},"end":{"value":348,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":355,"modifier":"EXACT"},"end":{"value":357,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5DDB"}]},{"type":"Helix","location":{"start":{"value":358,"modifier":"EXACT"},"end":{"value":366,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":367,"modifier":"EXACT"},"end":{"value":371,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":372,"modifier":"EXACT"},"end":{"value":384,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":385,"modifier":"EXACT"},"end":{"value":387,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9C92"}]},{"type":"Helix","location":{"start":{"value":403,"modifier":"EXACT"},"end":{"value":405,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":407,"modifier":"EXACT"},"end":{"value":424,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Beta strand","location":{"start":{"value":427,"modifier":"EXACT"},"end":{"value":429,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"8GPN"}]},{"type":"Helix","location":{"start":{"value":434,"modifier":"EXACT"},"end":{"value":445,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":449,"modifier":"EXACT"},"end":{"value":452,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Beta strand","location":{"start":{"value":456,"modifier":"EXACT"},"end":{"value":458,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4GQ4"}]},{"type":"Beta strand","location":{"start":{"value":521,"modifier":"EXACT"},"end":{"value":524,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6E1A"}]},{"type":"Beta strand","location":{"start":{"value":550,"modifier":"EXACT"},"end":{"value":552,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4GQ4"}]},{"type":"Helix","location":{"start":{"value":556,"modifier":"EXACT"},"end":{"value":561,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":562,"modifier":"EXACT"},"end":{"value":564,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Beta strand","location":{"start":{"value":567,"modifier":"EXACT"},"end":{"value":569,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"9C4W"}]},{"type":"Helix","location":{"start":{"value":572,"modifier":"EXACT"},"end":{"value":580,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6O5I"}]},{"type":"Helix","location":{"start":{"value":598,"modifier":"EXACT"},"end":{"value":607,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3U84"}]}],"keywords":[{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0156","category":"Molecular function","name":"Chromatin regulator"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0238","category":"Molecular function","name":"DNA-binding"},{"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0678","category":"Molecular function","name":"Repressor"},{"id":"KW-0804","category":"Biological process","name":"Transcription"},{"id":"KW-0805","category":"Biological process","name":"Transcription regulation"}],"references":[{"referenceNumber":1,"citation":{"id":"9103196","citationType":"journal article","authors":["Chandrasekharappa S.C.","Guru S.C.","Manickam P.","Olufemi S.-E.","Collins F.S.","Emmert-Buck M.R.","Debelenko L.V.","Zhuang Z.","Lubensky I.A.","Liotta L.A.","Crabtree J.S.","Wang Y.","Roe B.A.","Weisemann J.","Boguski M.S.","Agarwal S.K.","Kester M.B.","Kim Y.S.","Heppner C.","Dong Q.","Spiegel A.M.","Burns A.L.","Marx S.J."],"citationCrossReferences":[{"database":"PubMed","id":"9103196"},{"database":"DOI","id":"10.1126/science.276.5311.404"}],"title":"Positional cloning of the gene for multiple endocrine neoplasia-type 1.","publicationDate":"1997","journal":"Science","firstPage":"404","lastPage":"407","volume":"276"},"referencePositions":["NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2)","VARIANTS MEN1 ARG-22; LYS-119 DEL; GLU-363 DEL AND ARG-436","VARIANTS GLN-171 AND ALA-541"],"referenceComments":[{"value":"Leukocyte","type":"TISSUE"}]},{"referenceNumber":2,"citation":{"id":"16554811","citationType":"journal article","authors":["Taylor T.D.","Noguchi H.","Totoki Y.","Toyoda A.","Kuroki Y.","Dewar K.","Lloyd C.","Itoh T.","Takeda T.","Kim D.-W.","She X.","Barlow K.F.","Bloom T.","Bruford E.","Chang J.L.","Cuomo C.A.","Eichler E.","FitzGerald M.G.","Jaffe D.B.","LaButti K.","Nicol R.","Park H.-S.","Seaman C.","Sougnez C.","Yang X.","Zimmer A.R.","Zody M.C.","Birren B.W.","Nusbaum C.","Fujiyama A.","Hattori M.","Rogers J.","Lander E.S.","Sakaki Y."],"citationCrossReferences":[{"database":"PubMed","id":"16554811"},{"database":"DOI","id":"10.1038/nature04632"}],"title":"Human chromosome 11 DNA sequence and analysis including novel gene identification.","publicationDate":"2006","journal":"Nature","firstPage":"497","lastPage":"500","volume":"440"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":3,"citation":{"id":"17555499","citationType":"journal article","authors":["Toledo R.A.","Lourenco D.M.","Coutinho F.L.","Quedas E.","Mackowiack I.","Machado M.C.","Montenegro F.","Cunha-Neto M.B.","Liberman B.","Pereira M.A.","Correa P.H.","Toledo S.P."],"citationCrossReferences":[{"database":"PubMed","id":"17555499"},{"database":"DOI","id":"10.1111/j.1365-2265.2007.02895.x"}],"title":"Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1.","publicationDate":"2007","journal":"Clin. Endocrinol. (Oxf.)","firstPage":"377","lastPage":"384","volume":"67"},"referencePositions":["NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1)","VARIANTS MEN1 89-LEU--ALA-95 DEL; PHE-147; ARG-413; PRO-414 AND CYS-471","VARIANT ALA-541"]},{"referenceNumber":4,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3)","VARIANT ALA-541"],"referenceComments":[{"value":"Placenta","type":"TISSUE"},{"value":"Uterus","type":"TISSUE"}]},{"referenceNumber":5,"citation":{"id":"9989505","citationType":"journal article","authors":["Agarwal S.K.","Guru S.C.","Heppner C.","Erdos M.R.","Collins R.M.","Park S.Y.","Saggar S.","Chandrasekharappa S.C.","Collins F.S.","Spiegel A.M.","Marx S.J.","Burns A.L."],"citationCrossReferences":[{"database":"PubMed","id":"9989505"},{"database":"DOI","id":"10.1016/s0092-8674(00)80967-8"}],"title":"Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription.","publicationDate":"1999","journal":"Cell","firstPage":"143","lastPage":"152","volume":"96"},"referencePositions":["INTERACTION WITH JUND","VARIANTS MEN1 LEU-12; ARG-22; ASP-139; TYR-139; PRO-160; PRO-176; VAL-242; PRO-286; PRO-309; ARG-344 AND ARG-436"]},{"referenceNumber":6,"citation":{"id":"11526476","citationType":"journal article","authors":["Heppner C.","Bilimoria K.Y.","Agarwal S.K.","Kester M.","Whitty L.J.","Guru S.C.","Chandrasekharappa S.C.","Collins F.S.","Spiegel A.M.","Marx S.J.","Burns A.L."],"citationCrossReferences":[{"database":"PubMed","id":"11526476"},{"database":"DOI","id":"10.1038/sj.onc.1204529"}],"title":"The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation.","publicationDate":"2001","journal":"Oncogene","firstPage":"4917","lastPage":"4925","volume":"20"},"referencePositions":["FUNCTION","INTERACTION WITH NFKB1; NFKB2 AND RELA"]},{"referenceNumber":7,"citation":{"id":"11274402","citationType":"journal article","authors":["Kaji H.","Canaff L.","Lebrun J.J.","Goltzman D.","Hendy G.N."],"citationCrossReferences":[{"database":"PubMed","id":"11274402"},{"database":"DOI","id":"10.1073/pnas.061358098"}],"title":"Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling.","publicationDate":"2001","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"3837","lastPage":"3842","volume":"98"},"referencePositions":["FUNCTION","INTERACTION WITH SMAD3"]},{"referenceNumber":8,"citation":{"id":"12874027","citationType":"journal article","authors":["Jin S.","Mao H.","Schnepp R.W.","Sykes S.M.","Silva A.C.","D'Andrea A.D.","Hua X."],"citationCrossReferences":[{"database":"PubMed","id":"12874027"}],"title":"Menin associates with FANCD2, a protein involved in repair of DNA damage.","publicationDate":"2003","journal":"Cancer Res.","firstPage":"4204","lastPage":"4210","volume":"63"},"referencePositions":["FUNCTION","SUBCELLULAR LOCATION","INTERACTION WITH FANCD2"]},{"referenceNumber":9,"citation":{"id":"12837246","citationType":"journal article","authors":["Lin S.Y.","Elledge S.J."],"citationCrossReferences":[{"database":"PubMed","id":"12837246"},{"database":"DOI","id":"10.1016/s0092-8674(03)00430-6"}],"title":"Multiple tumor suppressor pathways negatively regulate telomerase.","publicationDate":"2003","journal":"Cell","firstPage":"881","lastPage":"889","volume":"113"},"referencePositions":["FUNCTION IN TERT REPRESSION"]},{"referenceNumber":10,"citation":{"id":"15374998","citationType":"journal article","authors":["Schnepp R.W.","Hou Z.","Wang H.","Petersen C.","Silva A.","Masai H.","Hua X."],"citationCrossReferences":[{"database":"PubMed","id":"15374998"},{"database":"DOI","id":"10.1158/0008-5472.can-04-0724"}],"title":"Functional interaction between tumor suppressor menin and activator of S-phase kinase.","publicationDate":"2004","journal":"Cancer Res.","firstPage":"6791","lastPage":"6796","volume":"64"},"referencePositions":["INTERACTION WITH DBF4"]},{"referenceNumber":11,"citation":{"id":"14992727","citationType":"journal article","authors":["Hughes C.M.","Rozenblatt-Rosen O.","Milne T.A.","Copeland T.D.","Levine S.S.","Lee J.C.","Hayes D.N.","Shanmugam K.S.","Bhattacharjee A.","Biondi C.A.","Kay G.F.","Hayward N.K.","Hess J.L.","Meyerson M."],"citationCrossReferences":[{"database":"PubMed","id":"14992727"},{"database":"DOI","id":"10.1016/s1097-2765(04)00081-4"}],"title":"Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus.","publicationDate":"2004","journal":"Mol. Cell","firstPage":"587","lastPage":"597","volume":"13"},"referencePositions":["FUNCTION IN H3K4 METHYLATION","IDENTIFICATION IN THE MEN1-ASSOCIATED HISTONE METHYLTRANSFERASE COMPLEX","INTERACTION WITH POLR2A AND POLR2B","VARIANTS MEN1 LEU-12; ARG-22; ASP-139; VAL-242; PRO-309; ARG-344 AND ARG-436"]},{"referenceNumber":12,"citation":{"id":"15199122","citationType":"journal article","authors":["Yokoyama A.","Wang Z.","Wysocka J.","Sanyal M.","Aufiero D.J.","Kitabayashi I.","Herr W.","Cleary M.L."],"citationCrossReferences":[{"database":"PubMed","id":"15199122"},{"database":"DOI","id":"10.1128/mcb.24.13.5639-5649.2004"}],"title":"Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression.","publicationDate":"2004","journal":"Mol. Cell. Biol.","firstPage":"5639","lastPage":"5649","volume":"24"},"referencePositions":["IDENTIFICATION IN THE MLL-HCF COMPLEX"]},{"referenceNumber":13,"citation":{"id":"17500065","citationType":"journal article","authors":["Cho Y.-W.","Hong T.","Hong S.","Guo H.","Yu H.","Kim D.","Guszczynski T.","Dressler G.R.","Copeland T.D.","Kalkum M.","Ge K."],"citationCrossReferences":[{"database":"PubMed","id":"17500065"},{"database":"DOI","id":"10.1074/jbc.m701574200"}],"title":"PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.","publicationDate":"2007","journal":"J. Biol. Chem.","firstPage":"20395","lastPage":"20406","volume":"282"},"referencePositions":["INTERACTION WITH DPY30"]},{"referenceNumber":14,"citation":{"id":"17525332","citationType":"journal article","authors":["Matsuoka S.","Ballif B.A.","Smogorzewska A.","McDonald E.R. III","Hurov K.E.","Luo J.","Bakalarski C.E.","Zhao Z.","Solimini N.","Lerenthal Y.","Shiloh Y.","Gygi S.P.","Elledge S.J."],"citationCrossReferences":[{"database":"PubMed","id":"17525332"},{"database":"DOI","id":"10.1126/science.1140321"}],"title":"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.","publicationDate":"2007","journal":"Science","firstPage":"1160","lastPage":"1166","volume":"316"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Embryonic kidney","type":"TISSUE"}]},{"referenceNumber":15,"citation":{"id":"18669648","citationType":"journal article","authors":["Dephoure N.","Zhou C.","Villen J.","Beausoleil S.A.","Bakalarski C.E.","Elledge S.J.","Gygi S.P."],"citationCrossReferences":[{"database":"PubMed","id":"18669648"},{"database":"DOI","id":"10.1073/pnas.0805139105"}],"title":"A quantitative atlas of mitotic phosphorylation.","publicationDate":"2008","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"10762","lastPage":"10767","volume":"105"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-594","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":16,"citation":{"id":"20068231","citationType":"journal article","authors":["Olsen J.V.","Vermeulen M.","Santamaria A.","Kumar C.","Miller M.L.","Jensen L.J.","Gnad F.","Cox J.","Jensen T.S.","Nigg E.A.","Brunak S.","Mann M."],"citationCrossReferences":[{"database":"PubMed","id":"20068231"},{"database":"DOI","id":"10.1126/scisignal.2000475"}],"title":"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.","publicationDate":"2010","journal":"Sci. Signal.","firstPage":"RA3","lastPage":"RA3","volume":"3"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":17,"citation":{"id":"23186163","citationType":"journal article","authors":["Zhou H.","Di Palma S.","Preisinger C.","Peng M.","Polat A.N.","Heck A.J.","Mohammed S."],"citationCrossReferences":[{"database":"PubMed","id":"23186163"},{"database":"DOI","id":"10.1021/pr300630k"}],"title":"Toward a comprehensive characterization of a human cancer cell phosphoproteome.","publicationDate":"2013","journal":"J. Proteome Res.","firstPage":"260","lastPage":"271","volume":"12"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-543 AND THR-594","VARIANT [LARGE SCALE ANALYSIS] ALA-541","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"},{"value":"Erythroleukemia","type":"TISSUE"}]},{"referenceNumber":18,"citation":{"id":"25305204","citationType":"journal article","authors":["Murai M.J.","Pollock J.","He S.","Miao H.","Purohit T.","Yokom A.","Hess J.L.","Muntean A.G.","Grembecka J.","Cierpicki T."],"citationCrossReferences":[{"database":"PubMed","id":"25305204"},{"database":"DOI","id":"10.1182/blood-2014-01-550079"}],"title":"The same site on the integrase-binding domain of lens epithelium-derived growth factor is a therapeutic target for MLL leukemia and HIV.","publicationDate":"2014","journal":"Blood","firstPage":"3730","lastPage":"3737","volume":"124"},"referencePositions":["INTERACTION WITH KMT2A AND FUSION PROTEIN KMT2A-MLLT3","INTERACTION OF KMT2A-MEN1 COMPLEX WITH PSIP1"]},{"referenceNumber":19,"citation":{"id":"24275569","citationType":"journal article","authors":["Bian Y.","Song C.","Cheng K.","Dong M.","Wang F.","Huang J.","Sun D.","Wang L.","Ye M.","Zou H."],"citationCrossReferences":[{"database":"PubMed","id":"24275569"},{"database":"DOI","id":"10.1016/j.jprot.2013.11.014"}],"title":"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.","publicationDate":"2014","journal":"J. Proteomics","firstPage":"253","lastPage":"262","volume":"96"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-487","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":20,"citation":{"id":"22936661","citationType":"journal article","authors":["Shi A.","Murai M.J.","He S.","Lund G.","Hartley T.","Purohit T.","Reddy G.","Chruszcz M.","Grembecka J.","Cierpicki T."],"citationCrossReferences":[{"database":"PubMed","id":"22936661"},{"database":"DOI","id":"10.1182/blood-2012-05-429274"}],"title":"Structural insights into inhibition of the bivalent menin-MLL interaction by small molecules in leukemia.","publicationDate":"2012","journal":"Blood","firstPage":"4461","lastPage":"4469","volume":"120"},"referencePositions":["X-RAY CRYSTALLOGRAPHY (1.27 ANGSTROMS) OF 1-598 IN COMPLEX WITH KMT2A AND INHIBITORS MI-2 AND MI-2-2","INTERACTION WITH KMT2A AND FUSION PROTEIN KMT2A-MLLT3"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"4GPQ"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4GQ3"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4GQ4"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"4GQ6"}]},{"referenceNumber":21,"citation":{"id":"22327296","citationType":"journal article","authors":["Huang J.","Gurung B.","Wan B.","Matkar S.","Veniaminova N.A.","Wan K.","Merchant J.L.","Hua X.","Lei M."],"citationCrossReferences":[{"database":"PubMed","id":"22327296"},{"database":"DOI","id":"10.1038/nature10806"}],"title":"The same pocket in menin binds both MLL and JUND but has opposite effects on transcription.","publicationDate":"2012","journal":"Nature","firstPage":"542","lastPage":"546","volume":"482"},"referencePositions":["X-RAY CRYSTALLOGRAPHY (2.50 ANGSTROMS) OF 2-615 IN COMPLEX WITH KMT2A; PSIP1 AND JUND","INTERACTION WITH KMT2A AND JUND","INTERACTION OF KMT2A-MEN1 COMPLEX WITH PSIP1","CHARACTERIZATION OF VARIANTS MEN1 ASP-139; PHE-241; VAL-242; ARG-281 AND ARG-344","CHARACTERIZATION OF VARIANT GLN-284","MUTAGENESIS OF ALA-182; MET-278; ASP-285; GLU-288; GLU-290; TYR-319; TYR-323; GLU-366 AND ASP-370","FUNCTION"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"3U84"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"3U85"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"3U86"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"3U88"}]},{"referenceNumber":22,"citation":{"id":"9215689","citationType":"journal article","authors":["Agarwal S.K.","Kester M.B.","Debelenko L.V.","Heppner C.","Emmert-Buck M.R.","Skarulis M.C.","Doppman J.L.","Kim Y.S.","Lubensky I.A.","Zhuang Z.","Green J.S.","Guru S.C.","Manickam P.","Olufemi S.E.","Liotta L.A.","Chandrasekharappa S.C.","Collins F.S.","Spiegel A.M.","Burns A.L.","Marx S.J."],"citationCrossReferences":[{"database":"PubMed","id":"9215689"},{"database":"DOI","id":"10.1093/hmg/6.7.1169"}],"title":"Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.","publicationDate":"1997","journal":"Hum. Mol. Genet.","firstPage":"1169","lastPage":"1175","volume":"6"},"referencePositions":["VARIANT MEN1 SER-447"]},{"referenceNumber":23,"citation":{"id":"9215690","citationType":"journal article","authoringGroup":["The European consortium on MEN1"],"authors":["Lemmens I.","Van de Ven W.J.M.","Kas K.","Zhang C.X.","Giraud S.","Wautot V.","Buisson N.","De Witte K.","Salandre J.","Lenoir G.","Pugeat M.","Calender A.","Parente F.","Quincey D.","Gaudray P.","De Wit M.J.","Lips C.J.M.","Hoeppener J.W.M.","Khodaei S.","Grant A.L.","Weber G.","Kytoelae S.","Teh B.T.","Farnebo F.","Phelan C.","Hayward N.","Larsson C.","Pannett A.A.J.","Forbes S.A.","Basset J.H.D.","Thakker R.V."],"citationCrossReferences":[{"database":"PubMed","id":"9215690"},{"database":"DOI","id":"10.1093/hmg/6.7.1177"}],"title":"Identification of the multiple endocrine neoplasia type 1 (MEN1) gene.","publicationDate":"1997","journal":"Hum. Mol. Genet.","firstPage":"1177","lastPage":"1183","volume":"6"},"referencePositions":["VARIANT MEN1 SER-183","VARIANT GLN-171"]},{"referenceNumber":24,"citation":{"id":"9241276","citationType":"journal article","authors":["Heppner C.","Kester M.B.","Agarwal S.K.","Debelenko L.V.","Emmert-Buck M.R.","Guru S.C.","Manickam P.","Olufemi S.-E.","Skarulis M.C.","Doppman J.L.","Alexander R.H.","Kim Y.S.","Saggar S.K.","Lubensky I.A.","Zhuang Z.","Liotta L.A.","Chandrasekharappa S.C.","Collins F.S.","Spiegel A.M.","Burns A.L.","Marx S.J."],"citationCrossReferences":[{"database":"PubMed","id":"9241276"},{"database":"DOI","id":"10.1038/ng0897-375"}],"title":"Somatic mutation of the MEN1 gene in parathyroid tumours.","publicationDate":"1997","journal":"Nat. Genet.","firstPage":"375","lastPage":"378","volume":"16"},"referencePositions":["VARIANT PARATHYROID ADENOMA LYS-26"]},{"referenceNumber":25,"citation":{"id":"9463336","citationType":"journal article","authors":["Bassett J.H.D.","Forbes S.A.","Pannett A.A.J.","Lloyd S.E.","Christie P.T.","Wooding C.","Harding B.","Besser G.M.","Edwards C.R.","Monson J.P.","Sampson J.","Wass J.A.H.","Wheeler M.H.","Thakker R.V."],"citationCrossReferences":[{"database":"PubMed","id":"9463336"},{"database":"DOI","id":"10.1086/301729"}],"title":"Characterization of mutations in patients with multiple endocrine neoplasia type 1.","publicationDate":"1998","journal":"Am. J. Hum. Genet.","firstPage":"232","lastPage":"244","volume":"62"},"referencePositions":["VARIANTS MEN1 ASP-42; PRO-160; ASP-164; SER-183 AND GLU-284"]},{"referenceNumber":26,"citation":{"id":"9683585","citationType":"journal article","authors":["Giraud S.","Zhang C.X.","Serova-Sinilnikova O.","Wautot V.","Salandre J.","Buisson N.","Waterlot C.","Bauters C.","Porchet N.","Aubert J.-P.","Emy P.","Cadiot G.","Delemer B.","Chabre O.","Niccoli P.","Leprat F.","Duron F.","Emperauger B.","Cougard P.","Goudet P.","Sarfati E.","Riou J.-P.","Guichard S.","Rodier M.","Meyrier A.","Caron P.","Vantyghem M.-C.","Assayag M.","Peix J.-L.","Pugeat M.","Rohmer V.","Vallotton M.","Lenoir G.","Gaudray P.","Proye C.","Conte-Devolx B.","Chanson P.","Shugart Y.Y.","Goldgar D.","Murat A.","Calender A."],"citationCrossReferences":[{"database":"PubMed","id":"9683585"},{"database":"DOI","id":"10.1086/301953"}],"title":"Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.","publicationDate":"1998","journal":"Am. J. Hum. Genet.","firstPage":"455","lastPage":"467","volume":"63"},"referencePositions":["VARIANTS MEN1"]},{"referenceNumber":27,"citation":{"id":"9792884","citationType":"journal article","authors":["Teh B.T.","Esapa C.T.","Houlston R.","Grandell U.","Farnebo F.","Nordenskjoeld M.","Pearce C.J.","Carmichael D.","Larsson C.","Harris P.E."],"citationCrossReferences":[{"database":"PubMed","id":"9792884"},{"database":"DOI","id":"10.1086/302097"}],"title":"A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.","publicationDate":"1998","journal":"Am. J. Hum. Genet.","firstPage":"1544","lastPage":"1549","volume":"63"},"referencePositions":["VARIANT LYS-255","INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM"]},{"referenceNumber":28,"citation":{"id":"9843042","citationType":"journal article","authors":["Fujimori M.","Shirahama S.","Sakurai A.","Hashizume K.","Hama Y.","Ito K.","Shingu K.","Kobayashi S.","Amano J.","Fukushima Y."],"citationCrossReferences":[{"database":"PubMed","id":"9843042"},{"database":"DOI","id":"10.1002/(sici)1096-8628(19981116)80:3<221::aid-ajmg8>3.0.co;2-1"}],"title":"Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism.","publicationDate":"1998","journal":"Am. J. Med. Genet.","firstPage":"221","lastPage":"222","volume":"80"},"referencePositions":["VARIANT GLU-184","INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM"]},{"referenceNumber":29,"citation":{"id":"9820618","citationType":"journal article","authors":["Bartsch D.","Kopp I.","Bergenfelz A.","Rieder H.","Muench K.","Jaeger K.","Deiss Y.","Schudy A.","Barth P.","Arnold R.","Rothmund M.","Simon B."],"citationCrossReferences":[{"database":"PubMed","id":"9820618"},{"database":"DOI","id":"10.1530/eje.0.1390416"}],"title":"MEN1 gene mutations in 12 MEN1 families and their associated tumors.","publicationDate":"1998","journal":"Eur. J. Endocrinol.","firstPage":"416","lastPage":"420","volume":"139"},"referencePositions":["VARIANTS MEN1 LYS-26 AND PRO-168"]},{"referenceNumber":30,"citation":{"id":"9671267","citationType":"journal article","authors":["Agarwal S.K.","Debelenko L.V.","Kester M.B.","Guru S.C.","Manickam P.","Olufemi S.-E.","Skarulis M.C.","Heppner C.","Crabtree J.S.","Lubensky I.A.","Zhuang Z.","Kim Y.S.","Chandrasekharappa S.C.","Collins F.S.","Liotta L.A.","Spiegel A.M.","Burns A.L.","Emmert-Buck M.R.","Marx S.J."],"citationCrossReferences":[{"database":"PubMed","id":"9671267"},{"database":"DOI","id":"10.1002/(sici)1098-1004(1998)12:2<75::aid-humu1>3.0.co;2-t"}],"title":"Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families.","publicationDate":"1998","journal":"Hum. Mutat.","firstPage":"75","lastPage":"82","volume":"12"},"referencePositions":["VARIANTS MEN1"]},{"referenceNumber":31,"citation":{"id":"10660339","citationType":"journal article","authors":["Cote G.J.","Lee J.E.","Evans D.B.","Huang E.","Schultz P.N.","Dang G.T.","Qiu H.","Shetelbine S.","Sellin R.V.","Gagel R.F."],"citationCrossReferences":[{"database":"PubMed","id":"10660339"}],"title":"Five novel mutations in the familial multiple endocrine neoplasia type 1 (MEN1) gene.","publicationDate":"1998","journal":"Hum. Mutat.","firstPage":"219","lastPage":"219","volume":"12"},"referencePositions":["VARIANT MEN1 ARG-427"]},{"referenceNumber":32,"citation":{"id":"9506756","citationType":"journal article","authors":["Tanaka C.","Yoshimoto K.","Yamada S.","Nishioka H.","Ii S.","Moritani M.","Yamaoka T.","Itakura M."],"citationCrossReferences":[{"database":"PubMed","id":"9506756"},{"database":"DOI","id":"10.1210/jcem.83.3.4653"}],"title":"Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese.","publicationDate":"1998","journal":"J. Clin. Endocrinol. Metab.","firstPage":"960","lastPage":"965","volume":"83"},"referencePositions":["VARIANT MEN1 LEU-320","VARIANT ALA-541"]},{"referenceNumber":33,"citation":{"id":"9709921","citationType":"journal article","authors":["Teh B.T.","Kytoelae S.","Farnebo F.","Bergman L.","Wong F.K.","Weber G.","Hayward N.","Larsson C.","Skogseid B.","Beckers A.","Phelan C.","Edwards M.","Epstein M.","Alford F.","Hurley D.","Grimmond S.","Silins G.","Walters M.","Stewart C.","Cardinal J.","Khodaei S.","Parente F.","Tranebjaerg L.","Jorde R.","Menon J.","Khir A.","Tan T.T.","Chan S.P.","Zaini A.","Khalid B.A.K.","Sandelin K.","Thompson N.","Brandi M.-L.","Warth M.","Stock J.","Leisti J.","Cameron D.","Shepherd J.J.","Oeberg K.","Nordenskjoeld M.","Salmela P."],"citationCrossReferences":[{"database":"PubMed","id":"9709921"},{"database":"DOI","id":"10.1210/jcem.83.8.5059"}],"title":"Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.","publicationDate":"1998","journal":"J. Clin. Endocrinol. Metab.","firstPage":"2621","lastPage":"2626","volume":"83"},"referencePositions":["VARIANT MEN1 ASN-418","VARIANTS GLN-171 AND ALA-541"]},{"referenceNumber":34,"citation":{"id":"9709976","citationType":"journal article","authors":["Carling T.","Correa P.","Hessman O.","Hedberg J.","Skogseid B.","Lindberg D.","Rastad J.","Westin G.","Akerstrom G."],"citationCrossReferences":[{"database":"PubMed","id":"9709976"},{"database":"DOI","id":"10.1210/jcem.83.8.4977"}],"title":"Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism.","publicationDate":"1998","journal":"J. Clin. Endocrinol. Metab.","firstPage":"2960","lastPage":"2963","volume":"83"},"referencePositions":["VARIANT MEN1 ASP-139","VARIANT TRP-152"]},{"referenceNumber":35,"citation":{"id":"9709985","citationType":"journal article","authors":["Mayr B.","Brabant G.","von zur Muehlen A."],"citationCrossReferences":[{"database":"PubMed","id":"9709985"},{"database":"DOI","id":"10.1210/jcem.83.8.5033-4"}],"title":"Menin mutations in MEN1 patients.","publicationDate":"1998","journal":"J. Clin. Endocrinol. Metab.","firstPage":"3004","lastPage":"3005","volume":"83"},"referencePositions":["VARIANT MEN1 SER-423"]},{"referenceNumber":36,"citation":{"id":"9740255","citationType":"journal article","authors":["Boeni R.","Vortmeyer A.O.","Pack S.","Park W.-S.","Burg G.","Hofbauer G.","Darling T.","Liotta L.","Zhuang Z."],"citationCrossReferences":[{"database":"PubMed","id":"9740255"},{"database":"DOI","id":"10.1046/j.1523-1747.1998.00317.x"}],"title":"Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas.","publicationDate":"1998","journal":"J. Invest. Dermatol.","firstPage":"539","lastPage":"540","volume":"111"},"referencePositions":["VARIANTS MEN1 ILE-135 AND LYS-359"]},{"referenceNumber":37,"citation":{"id":"9747036","citationType":"journal article","authors":["Sakurai A.","Shirahama S.","Fujimori M.","Katai M.","Itakura Y.","Kobayashi S.","Amano J.","Fukushima Y.","Hashizume K."],"citationCrossReferences":[{"database":"PubMed","id":"9747036"},{"database":"DOI","id":"10.1007/s100380050070"}],"title":"Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1.","publicationDate":"1998","journal":"J. Hum. Genet.","firstPage":"199","lastPage":"201","volume":"43"},"referencePositions":["VARIANTS MEN1 LYS-119 DEL AND 166-GLN--LEU-168 DEL"]},{"referenceNumber":38,"citation":{"id":"9832038","citationType":"journal article","authors":["Sato M.","Matsubara S.","Miyauchi A.","Ohye H.","Imachi H.","Murao K.","Takahara J."],"citationCrossReferences":[{"database":"PubMed","id":"9832038"},{"database":"DOI","id":"10.1136/jmg.35.11.915"}],"title":"Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families.","publicationDate":"1998","journal":"J. Med. Genet.","firstPage":"915","lastPage":"919","volume":"35"},"referencePositions":["VARIANT MEN1 GLY-45"]},{"referenceNumber":39,"citation":{"id":"10617276","citationType":"journal article","authors":["Martin-Campos J.M.","Catasus L.","Chico A.","Mayoral C.","Lagarda E.","Gallart L.","Mato E.","Rodriguez-Espinosa J.","Matias-Guiu X.","De Leiva A.","Blanco-Vaca F."],"citationCrossReferences":[{"database":"PubMed","id":"10617276"},{"database":"DOI","id":"10.1097/00019606-199912000-00005"}],"title":"Molecular pathology of multiple endocrine neoplasia type I: two novel germline mutations and updated classification of mutations affecting MEN1 gene.","publicationDate":"1999","journal":"Diagn. Mol. Pathol.","firstPage":"195","lastPage":"204","volume":"8"},"referencePositions":["VARIANT MEN1 ARG-139"]},{"referenceNumber":40,"citation":{"id":"10229909","citationType":"journal article","authors":["Cetani F.","Pardi E.","Cianferotti L.","Vignali E.","Picone A.","Miccoli P.","Pinchera A.","Marcocci C."],"citationCrossReferences":[{"database":"PubMed","id":"10229909"},{"database":"DOI","id":"10.1530/eje.0.1400429"}],"title":"A new mutation of the MEN1 gene in an Italian kindred with multiple endocrine neoplasia type 1.","publicationDate":"1999","journal":"Eur. J. Endocrinol.","firstPage":"429","lastPage":"433","volume":"140"},"referencePositions":["VARIANT MEN1 PRO-444"]},{"referenceNumber":41,"citation":{"id":"10576763","citationType":"journal article","authors":["Hai N.","Aoki N.","Matsuda A.","Mori T.","Kosugi S."],"citationCrossReferences":[{"database":"PubMed","id":"10576763"},{"database":"DOI","id":"10.1530/eje.0.1410475"}],"title":"Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1).","publicationDate":"1999","journal":"Eur. J. Endocrinol.","firstPage":"475","lastPage":"480","volume":"141"},"referencePositions":["VARIANTS MEN1 ARG-183; ARG-225; TYR-241 AND PRO-253","VARIANT ALA-541"]},{"referenceNumber":42,"citation":{"id":"10647896","citationType":"journal article","authors":["Schulte K.-M.","Heinze M.","Mengel M.","Simon D.","Scheuring S.","Koehrer K.","Roeher H.-D."],"citationCrossReferences":[{"database":"PubMed","id":"10647896"},{"database":"DOI","id":"10.1007/s004399900193"}],"title":"MEN I gene mutations in sporadic adrenal adenomas.","publicationDate":"1999","journal":"Hum. Genet.","firstPage":"603","lastPage":"610","volume":"105"},"referencePositions":["VARIANT ADRENAL ADENOMA SER-552"]},{"referenceNumber":43,"citation":{"id":"9888389","citationType":"journal article","authors":["Poncin J.","Abs R.","Velkeniers B.","Bonduelle M.","Abramowicz M.","Legros J.-J.","Verloes A.","Meurisse M.","van Gaal L.","Verellen C.","Koulischer L.","Beckers A."],"citationCrossReferences":[{"database":"PubMed","id":"9888389"},{"database":"DOI","id":"10.1002/(sici)1098-1004(1999)13:1<54::aid-humu6>3.0.co;2-k"}],"title":"Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.","publicationDate":"1999","journal":"Hum. Mutat.","firstPage":"54","lastPage":"60","volume":"13"},"referencePositions":["VARIANTS MEN1 TRP-39; TYR-172; ASP-179 AND PRO-264","VARIANTS GLN-171; PRO-267 AND ALA-541","INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM"]},{"referenceNumber":44,"citation":{"id":"10090472","citationType":"journal article","authors":["Mutch M.G.","Dilley W.G.","Sanjurjo F.","Debenedetti M.K.","Doherty G.M.","Wells S.A. Jr.","Goodfellow P.J.","Lairmore T.C."],"citationCrossReferences":[{"database":"PubMed","id":"10090472"},{"database":"DOI","id":"10.1002/(sici)1098-1004(1999)13:3<175::aid-humu1>3.0.co;2-r"}],"title":"Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects.","publicationDate":"1999","journal":"Hum. Mutat.","firstPage":"175","lastPage":"185","volume":"13"},"referencePositions":["VARIANTS MEN1 ASP-156 AND ARG-241"]},{"referenceNumber":45,"citation":{"id":"10534569","citationType":"journal article","authors":["Engelbach M.","Forst T.","Hankeln T.","Tratzky M.","Heerdt S.","Pfuetzner A.","Kann P.","Kunt T.","Schneider S.","Schmidt E.R.","Beyer J."],"citationCrossReferences":[{"database":"PubMed","id":"10534569"},{"database":"DOI","id":"10.3892/ijmm.4.5.483"}],"title":"Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA.","publicationDate":"1999","journal":"Int. J. Mol. Med.","firstPage":"483","lastPage":"485","volume":"4"},"referencePositions":["VARIANT MEN1 PHE-155"]},{"referenceNumber":46,"citation":{"id":"10993647","citationType":"journal article","authors":["Bergman L.","Teh B.T.","Cardinal J.","Palmer J.","Walters M.","Shepherd J.","Cameron D.","Hayward N."],"citationCrossReferences":[{"database":"PubMed","id":"10993647"},{"database":"DOI","id":"10.1054/bjoc.2000.1380"}],"title":"Identification of MEN1 gene mutations in families with MEN 1 and related disorders.","publicationDate":"2000","journal":"Br. J. Cancer","firstPage":"1009","lastPage":"1014","volume":"83"},"referencePositions":["VARIANTS MEN1 LEU-229; ASP-353; SER-373 AND PRO-415"]},{"referenceNumber":47,"citation":{"id":"11034102","citationType":"journal article","authors":["Uchino S.","Noguchi S.","Sato M.","Yamashita H.","Yamashita H.","Watanabe S.","Murakami T.","Toda M.","Ohshima A.","Futata T.","Mizukoshi T.","Koike E.","Takatsu K.","Terao K.","Wakiya S.","Nagatomo M.","Adachi M."],"citationCrossReferences":[{"database":"PubMed","id":"11034102"}],"title":"Screening of the MEN1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumors.","publicationDate":"2000","journal":"Cancer Res.","firstPage":"5553","lastPage":"5557","volume":"60"},"referencePositions":["VARIANTS PARATHYROID TUMOR ASP-156; ARG-183; TRP-253; ALA-274 AND PRO-284"]},{"referenceNumber":48,"citation":{"id":"10849016","citationType":"journal article","authors":["Roijers J.F.M.","de Wit M.J.","van der Luijt R.B.","Ploos van Amstel H.K.","Hoeppener J.W.M.","Lips C.J.M."],"citationCrossReferences":[{"database":"PubMed","id":"10849016"},{"database":"DOI","id":"10.1046/j.1365-2362.2000.00664.x"}],"title":"Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding.","publicationDate":"2000","journal":"Eur. J. Clin. Invest.","firstPage":"487","lastPage":"492","volume":"30"},"referencePositions":["VARIANTS MEN1 TRP-39; LYS-119 DEL; GLN-179; PRO-223; ARG-317; PRO-337; ASN-348; VAL-385 AND SER-544"]},{"referenceNumber":49,"citation":{"id":"10664520","citationType":"journal article","authors":["Morelli A.","Falchetti A.","Martineti V.","Becherini L.","Mark M.","Friedman E.","Brandi M.L."],"citationCrossReferences":[{"database":"PubMed","id":"10664520"},{"database":"DOI","id":"10.1530/eje.0.1420131"}],"title":"MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1.","publicationDate":"2000","journal":"Eur. J. Endocrinol.","firstPage":"131","lastPage":"137","volume":"142"},"referencePositions":["VARIANTS MEN1 LYS-45; MET-215 AND ARG-344"]},{"referenceNumber":50,"citation":{"id":"10664521","citationType":"journal article","authors":["Honda M.","Tsukada T.","Tanaka H.","Maruyama K.","Yamaguchi K.","Obara T.","Yamaji T.","Ishibashi M."],"citationCrossReferences":[{"database":"PubMed","id":"10664521"},{"database":"DOI","id":"10.1530/eje.0.1420138"}],"title":"A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism.","publicationDate":"2000","journal":"Eur. J. Endocrinol.","firstPage":"138","lastPage":"143","volume":"142"},"referencePositions":["VARIANT ASP-305","INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM"]},{"referenceNumber":51,"citation":{"id":"11102994","citationType":"journal article","authors":["Weinhaeusel A.","Vierhapper H.","Schlegl R.","Wagner T.","Muhr D.","Scheuba C.","Niederle B.","Haas O.A."],"citationCrossReferences":[{"database":"PubMed","id":"11102994"},{"database":"DOI","id":"10.1002/1098-1004(200012)16:6<533::aid-humu22>3.0.co;2-5"}],"title":"A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1).","publicationDate":"2000","journal":"Hum. Mutat.","firstPage":"533","lastPage":"533","volume":"16"},"referencePositions":["VARIANT MEN1 LYS-179"]},{"referenceNumber":52,"citation":{"id":"10634381","citationType":"journal article","authors":["Kassem M.","Kruse T.A.","Wong F.K.","Larsson C.","Teh B.T."],"citationCrossReferences":[{"database":"PubMed","id":"10634381"},{"database":"DOI","id":"10.1210/jcem.85.1.6299"}],"title":"Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree.","publicationDate":"2000","journal":"J. Clin. Endocrinol. Metab.","firstPage":"165","lastPage":"167","volume":"85"},"referencePositions":["VARIANT PRO-260","INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM"]},{"referenceNumber":53,"citation":{"id":"11134142","citationType":"journal article","authors":["Stratakis C.A.","Schussheim D.H.","Freedman S.M.","Keil M.F.","Pack S.D.","Agarwal S.K.","Skarulis M.C.","Weil R.J.","Lubensky I.A.","Zhuang Z.","Oldfield E.H.","Marx S.J."],"citationCrossReferences":[{"database":"PubMed","id":"11134142"},{"database":"DOI","id":"10.1210/jcem.85.12.7064"}],"title":"Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1.","publicationDate":"2000","journal":"J. Clin. Endocrinol. Metab.","firstPage":"4776","lastPage":"4780","volume":"85"},"referencePositions":["VARIANT MEN1 ASP-139"]},{"referenceNumber":54,"citation":{"id":"11241849","citationType":"journal article","authors":["Asteria C.","Faglia G.","Roncoroni R.","Borretta G.","Ribotto P.","Beck-Peccoz P."],"citationCrossReferences":[{"database":"PubMed","id":"11241849"},{"database":"DOI","id":"10.1002/humu.12"}],"title":"Identification of three novel menin mutations (c.741delGTCA, c.1348T>C, c.1785delA) in unrelated Italian families affected with multiple endocrine neoplasia type 1: additional information for mutational screening.","publicationDate":"2001","journal":"Hum. Mutat.","firstPage":"237","lastPage":"237","volume":"17"},"referencePositions":["VARIANT MEN1 PRO-414"]},{"referenceNumber":55,"citation":{"id":"12112656","citationType":"journal article","authors":["Wautot V.","Vercherat C.","Lespinasse J.","Chambe B.","Lenoir G.M.","Zhang C.X.","Porchet N.","Cordier M.","Beroud C.","Calender A."],"citationCrossReferences":[{"database":"PubMed","id":"12112656"},{"database":"DOI","id":"10.1002/humu.10092"}],"title":"Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.","publicationDate":"2002","journal":"Hum. Mutat.","firstPage":"35","lastPage":"47","volume":"20"},"referencePositions":["VARIANTS MEN1 TRP-39; ASP-42; LEU-98; PRO-160; THR-160; PHE-162; ASP-164; ARG-165; TYR-172; PRO-223; PHE-240; ARG-281; PRO-311; PRO-314; TYR-317; ARG-317; ASP-337; ARG-341; HIS-357; ASP-368; MET-372; ASN-418; CYS-527; ASN-555 AND ARG-555"]},{"referenceNumber":56,"citation":{"id":"12417605","citationType":"journal article","authors":["Okamoto H.","Tamada A.","Hai N.","Doi M.","Uchimura I.","Hirata Y.","Kosugi S."],"citationCrossReferences":[{"database":"PubMed","id":"12417605"},{"database":"DOI","id":"10.1093/jjco/hyf079"}],"title":"A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism.","publicationDate":"2002","journal":"Jpn. J. Clin. Oncol.","firstPage":"368","lastPage":"370","volume":"32"},"referencePositions":["VARIANT MEN1 LEU-GLN-261 INS"]},{"referenceNumber":57,"citation":{"id":"12050235","citationType":"journal article","authors":["Turner J.J.O.","Leotlela P.D.","Pannett A.A.J.","Forbes S.A.","Bassett J.H.D.","Harding B.","Christie P.T.","Bowen-Jones D.","Ellard S.","Hattersley A.","Jackson C.E.","Pope R.","Quarrell O.W.","Trembath R.","Thakker R.V."],"citationCrossReferences":[{"database":"PubMed","id":"12050235"},{"database":"DOI","id":"10.1210/jcem.87.6.8607"}],"title":"Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.","publicationDate":"2002","journal":"J. Clin. Endocrinol. Metab.","firstPage":"2688","lastPage":"2693","volume":"87"},"referencePositions":["VARIANTS MEN1 LYS-119 DEL; ILE-154; GLU-363 DEL AND ASN-418"]},{"referenceNumber":58,"citation":{"id":"12016470","citationType":"journal article","authors":["Perrier N.D.","Villablanca A.","Larsson C.","Wong M.","Ituarte P.","Teh B.T.","Clark O.H."],"citationCrossReferences":[{"database":"PubMed","id":"12016470"},{"database":"DOI","id":"10.1007/s00268-002-6617-9"}],"title":"Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism.","publicationDate":"2002","journal":"World J. Surg.","firstPage":"907","lastPage":"913","volume":"26"},"referencePositions":["VARIANT HIS-277","INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM"]},{"referenceNumber":59,"citation":{"id":"12699448","citationType":"journal article","authors":["Pannett A.A.J.","Kennedy A.M.","Turner J.J.O.","Forbes S.A.","Cavaco B.M.","Bassett J.H.D.","Cianferotti L.","Harding B.","Shine B.","Flinter F.","Maidment C.G.H.","Trembath R.","Thakker R.V."],"citationCrossReferences":[{"database":"PubMed","id":"12699448"},{"database":"DOI","id":"10.1046/j.1365-2265.2003.01765.x"}],"title":"Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.","publicationDate":"2003","journal":"Clin. Endocrinol. (Oxf.)","firstPage":"639","lastPage":"646","volume":"58"},"referencePositions":["VARIANTS MEN1 VAL-153 AND PRO-411","INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM"]},{"referenceNumber":60,"citation":{"id":"12791038","citationType":"journal article","authors":["Park J.-H.","Kim I.-J.","Kang H.C.","Lee S.-H.","Shin Y.","Kim K.-H.","Lim S.-B.","Kang S.-B.","Lee K.U.","Kim S.Y.","Lee M.-S.","Lee M.-K.","Park J.-H.","Moon S.-D.","Park J.-G."],"citationCrossReferences":[{"database":"PubMed","id":"12791038"},{"database":"DOI","id":"10.1034/j.1399-0004.2003.00091.x"}],"title":"Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders.","publicationDate":"2003","journal":"Clin. Genet.","firstPage":"48","lastPage":"53","volume":"64"},"referencePositions":["VARIANT MEN1 PRO-325"]},{"referenceNumber":61,"citation":{"id":"12652570","citationType":"journal article","authoringGroup":["Groupe d'etude des neoplasies endocriniennes multiples"],"authors":["Crepin M.","Escande F.","Pigny P.","Buisine M.-P.","Calender A.","Porchet N.","Odou M.-F."],"citationCrossReferences":[{"database":"PubMed","id":"12652570"},{"database":"DOI","id":"10.1002/elps.200390023"}],"title":"Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.","publicationDate":"2003","journal":"Electrophoresis","firstPage":"26","lastPage":"33","volume":"24"},"referencePositions":["VARIANTS MEN1 ARG-165; PRO-223; PHE-241; ARG-281; PRO-311; TYR-317; ASN-418 AND SER-540"]},{"referenceNumber":62,"citation":{"id":"14686752","citationType":"journal article","authors":["Ukita C.","Yamaguchi M.","Tanaka T.","Shigeta H.","Nishikawa M."],"citationCrossReferences":[{"database":"PubMed","id":"14686752"},{"database":"DOI","id":"10.2169/internalmedicine.42.1112"}],"title":"A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome.","publicationDate":"2003","journal":"Intern. Med.","firstPage":"1112","lastPage":"1116","volume":"42"},"referencePositions":["VARIANT MEN1 PRO-342"]},{"referenceNumber":63,"citation":{"id":"12746426","citationType":"journal article","authors":["Cebrian A.","Ruiz-Llorente S.","Cascon A.","Pollan M.","Diez J.J.","Pico A.","Telleria D.","Benitez J.","Robledo M."],"citationCrossReferences":[{"database":"PubMed","id":"12746426"},{"database":"DOI","id":"10.1136/jmg.40.5.e72"}],"title":"Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients.","publicationDate":"2003","journal":"J. Med. Genet.","firstPage":"E72","lastPage":"E72","volume":"40"},"referencePositions":["VARIANTS MEN1 LYS-45 AND PRO-139","VARIANTS GLN-171 AND ALA-541"]},{"referenceNumber":64,"citation":{"id":"15205994","citationType":"journal article","authors":["Balogh K.","Patocs A.","Majnik J.","Varga F.","Illyes G.","Hunyady L.","Racz K."],"citationCrossReferences":[{"database":"PubMed","id":"15205994"},{"database":"DOI","id":"10.1007/s10038-004-0163-2"}],"title":"Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene.","publicationDate":"2004","journal":"J. Hum. Genet.","firstPage":"380","lastPage":"386","volume":"49"},"referencePositions":["VARIANT GLN-171"]},{"referenceNumber":65,"citation":{"id":"15730416","citationType":"journal article","authors":["Jap T.-S.","Chiu C.-Y.","Won J.G.-S.","Wu Y.-C.","Chen H.-S."],"citationCrossReferences":[{"database":"PubMed","id":"15730416"},{"database":"DOI","id":"10.1111/j.1365-2265.2005.02219.x"}],"title":"Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1.","publicationDate":"2005","journal":"Clin. Endocrinol. (Oxf.)","firstPage":"336","lastPage":"342","volume":"62"},"referencePositions":["VARIANTS MEN1 GLU-110 AND HIS-418"]},{"referenceNumber":66,"citation":{"id":"15714081","citationType":"journal article","authors":["Klein R.D.","Salih S.","Bessoni J.","Bale A.E."],"citationCrossReferences":[{"database":"PubMed","id":"15714081"},{"database":"DOI","id":"10.1097/01.gim.0000153663.62300.f8"}],"title":"Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.","publicationDate":"2005","journal":"Genet. Med.","firstPage":"131","lastPage":"138","volume":"7"},"referencePositions":["VARIANTS MEN1 VAL-144; ASP-156; ASP-179; LYS-179; ARG-181; MET-215; ARG-259; ARG-320; TRP-355; TYR-421; CYS-436 AND ARG-436"]},{"referenceNumber":67,"citation":{"id":"17555500","citationType":"journal article","authors":["Haven C.J.","van Puijenbroek M.","Tan M.H.","Teh B.T.","Fleuren G.J.","van Wezel T.","Morreau H."],"citationCrossReferences":[{"database":"PubMed","id":"17555500"},{"database":"DOI","id":"10.1111/j.1365-2265.2007.02894.x"}],"title":"Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas.","publicationDate":"2007","journal":"Clin. Endocrinol. (Oxf.)","firstPage":"370","lastPage":"376","volume":"67"},"referencePositions":["VARIANT PHE-215","ASSOCIATION WITH PARATHYROID CARCINOMA"]},{"referenceNumber":68,"citation":{"id":"19413330","citationType":"journal article","authors":["Gauci S.","Helbig A.O.","Slijper M.","Krijgsveld J.","Heck A.J.","Mohammed S."],"citationCrossReferences":[{"database":"PubMed","id":"19413330"},{"database":"DOI","id":"10.1021/ac9004309"}],"title":"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.","publicationDate":"2009","journal":"Anal. Chem.","firstPage":"4493","lastPage":"4501","volume":"81"},"referencePositions":["VARIANT [LARGE SCALE ANALYSIS] ALA-541","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":69,"citation":{"id":"19690332","citationType":"journal article","authors":["Mayya V.","Lundgren D.H.","Hwang S.-I.","Rezaul K.","Wu L.","Eng J.K.","Rodionov V.","Han D.K."],"citationCrossReferences":[{"database":"PubMed","id":"19690332"},{"database":"DOI","id":"10.1126/scisignal.2000007"}],"title":"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.","publicationDate":"2009","journal":"Sci. Signal.","firstPage":"RA46","lastPage":"RA46","volume":"2"},"referencePositions":["VARIANT [LARGE SCALE ANALYSIS] ALA-541","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Leukemic T-cell","type":"TISSUE"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"U93236","properties":[{"key":"ProteinId","value":"AAC51228.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"U93237","properties":[{"key":"ProteinId","value":"AAC51229.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"U93237","properties":[{"key":"ProteinId","value":"AAC51230.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AP001462","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"EF443091","properties":[{"key":"ProteinId","value":"ABQ12621.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"EF443092","properties":[{"key":"ProteinId","value":"ABQ12622.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"EF443093","properties":[{"key":"ProteinId","value":"ABQ12623.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"EF443094","properties":[{"key":"ProteinId","value":"ABQ12624.1"},{"key":"Status","value":"ALT_FRAME"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"EF443095","properties":[{"key":"ProteinId","value":"ABQ12625.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"EF443096","properties":[{"key":"ProteinId","value":"ABQ12626.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"EF443097","properties":[{"key":"ProteinId","value":"ABQ12627.1"},{"key":"Status","value":"ALT_FRAME"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC002544","properties":[{"key":"ProteinId","value":"AAH02544.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC002664","properties":[{"key":"ProteinId","value":"AAH02664.2"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS31600.1","properties":[{"key":"Description","value":"-"}],"isoformId":"O00255-2"},{"database":"CCDS","id":"CCDS8083.1","properties":[{"key":"Description","value":"-"}],"isoformId":"O00255-1"},{"database":"RefSeq","id":"NP_000235.3","properties":[{"key":"NucleotideSequenceId","value":"NM_000244.4"}],"isoformId":"O00255-1"},{"database":"RefSeq","id":"NP_001357188.2","properties":[{"key":"NucleotideSequenceId","value":"NM_001370259.2"}],"isoformId":"O00255-2"},{"database":"RefSeq","id":"NP_001357189.2","properties":[{"key":"NucleotideSequenceId","value":"NM_001370260.2"}],"isoformId":"O00255-2"},{"database":"RefSeq","id":"NP_001357190.2","properties":[{"key":"NucleotideSequenceId","value":"NM_001370261.2"}],"isoformId":"O00255-2"},{"database":"RefSeq","id":"NP_001394074.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001407145.1"}],"isoformId":"O00255-1"},{"database":"RefSeq","id":"NP_001394075.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001407146.1"}],"isoformId":"O00255-2"},{"database":"RefSeq","id":"NP_001394076.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001407147.1"}],"isoformId":"O00255-2"},{"database":"RefSeq","id":"NP_570711.2","properties":[{"key":"NucleotideSequenceId","value":"NM_130799.3"}],"isoformId":"O00255-2"},{"database":"RefSeq","id":"NP_570712.2","properties":[{"key":"NucleotideSequenceId","value":"NM_130800.3"}],"isoformId":"O00255-1"},{"database":"RefSeq","id":"NP_570713.2","properties":[{"key":"NucleotideSequenceId","value":"NM_130801.3"}],"isoformId":"O00255-1"},{"database":"RefSeq","id":"NP_570714.2","properties":[{"key":"NucleotideSequenceId","value":"NM_130802.3"}],"isoformId":"O00255-1"},{"database":"RefSeq","id":"NP_570715.2","properties":[{"key":"NucleotideSequenceId","value":"NM_130803.3"}],"isoformId":"O00255-1"},{"database":"RefSeq","id":"NP_570716.2","properties":[{"key":"NucleotideSequenceId","value":"NM_130804.3"}],"isoformId":"O00255-1"},{"database":"PDB","id":"3U84","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.50 A"},{"key":"Chains","value":"A/B=2-610"}]},{"database":"PDB","id":"3U85","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"3.00 A"},{"key":"Chains","value":"A=2-610"}]},{"database":"PDB","id":"3U86","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.84 A"},{"key":"Chains","value":"A=2-610"}]},{"database":"PDB","id":"3U88","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"3.00 A"},{"key":"Chains","value":"A/B=2-610"}]},{"database":"PDB","id":"4GPQ","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.46 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"4GQ3","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.56 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"4GQ4","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.27 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"4GQ6","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.55 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"4I80","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"3.10 A"},{"key":"Chains","value":"A=2-610"}]},{"database":"PDB","id":"4OG3","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.01 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"4OG4","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.45 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"4OG5","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.63 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"4OG6","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.49 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"4OG7","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.08 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"4OG8","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.53 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"4X5Y","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.59 A"},{"key":"Chains","value":"A=1-427, A=537-593"}]},{"database":"PDB","id":"4X5Z","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.86 A"},{"key":"Chains","value":"A=1-427, A=537-593"}]},{"database":"PDB","id":"5DB0","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.50 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"5DB1","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.86 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"5DB2","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.54 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"5DB3","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.71 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"5DD9","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.62 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"5DDA","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.83 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"5DDB","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.54 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"5DDC","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.62 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"5DDD","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.14 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"5DDE","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.78 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"5DDF","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.66 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"6B41","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.61 A"},{"key":"Chains","value":"A=2-610"}]},{"database":"PDB","id":"6BXH","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.44 A"},{"key":"Chains","value":"A=1-459"}]},{"database":"PDB","id":"6BXY","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.82 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"6BY8","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.90 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"6E1A","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"3.10 A"},{"key":"Chains","value":"A=2-610"}]},{"database":"PDB","id":"6O5I","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.24 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"6OPJ","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.50 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"6PKC","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.90 A"},{"key":"Chains","value":"A/B=2-583"}]},{"database":"PDB","id":"6S2K","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"3.10 A"},{"key":"Chains","value":"A/B=1-584"}]},{"database":"PDB","id":"6WNH","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.10 A"},{"key":"Chains","value":"A=2-610"}]},{"database":"PDB","id":"7M4T","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.74 A"},{"key":"Chains","value":"A=2-610"}]},{"database":"PDB","id":"7O9T","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.16 A"},{"key":"Chains","value":"A=1-584"}]},{"database":"PDB","id":"7O9X","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.30 A"},{"key":"Chains","value":"A=1-584"}]},{"database":"PDB","id":"7O9Z","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.98 A"},{"key":"Chains","value":"A=1-584"}]},{"database":"PDB","id":"7OA9","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.10 A"},{"key":"Chains","value":"A=1-584"}]},{"database":"PDB","id":"7UJ4","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.96 A"},{"key":"Chains","value":"A/B=1-457"}]},{"database":"PDB","id":"8E90","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.85 A"},{"key":"Chains","value":"A/B=1-457"}]},{"database":"PDB","id":"8GPN","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.20 A"},{"key":"Chains","value":"K=1-610"}]},{"database":"PDB","id":"8IG0","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.60 A"},{"key":"Chains","value":"A/B/C/D=1-610"}]},{"database":"PDB","id":"8VA5","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.30 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"8VA6","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.57 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"9C4S","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.54 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"9C4T","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.46 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"9C4U","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.57 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"9C4V","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.47 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"9C4W","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.40 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"9C4X","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.58 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"9C4Y","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.31 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"9C4Z","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.40 A"},{"key":"Chains","value":"A=1-593"}]},{"database":"PDB","id":"9C92","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.90 A"},{"key":"Chains","value":"A/B=2-583"}]},{"database":"PDB","id":"9C93","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.85 A"},{"key":"Chains","value":"A/B=2-583"}]},{"database":"PDB","id":"9C94","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.98 A"},{"key":"Chains","value":"A/B=2-583"}]},{"database":"PDB","id":"9WKU","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.90 A"},{"key":"Chains","value":"A/B=2-583"}]},{"database":"PDB","id":"9WKV","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.80 A"},{"key":"Chains","value":"A/B=2-583"}]},{"database":"PDB","id":"9WKW","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.63 A"},{"key":"Chains","value":"A/B=2-583"}]},{"database":"PDB","id":"9WKX","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.25 A"},{"key":"Chains","value":"A/B=2-583"}]},{"database":"PDB","id":"9WN9","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.50 A"},{"key":"Chains","value":"A/B=2-583"}]},{"database":"PDB","id":"9WNA","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.00 A"},{"key":"Chains","value":"A/B=2-583"}]},{"database":"PDB","id":"9WNI","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.40 A"},{"key":"Chains","value":"A/B=2-583"}]},{"database":"PDB","id":"9WNJ","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.00 A"},{"key":"Chains","value":"A/B=2-583"}]},{"database":"PDB","id":"9Z4X","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.95 A"},{"key":"Chains","value":"A/B/C/D=2-610"}]},{"database":"PDBsum","id":"3U84","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"3U85","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"3U86","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"3U88","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"4GPQ","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"4GQ3","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"4GQ4","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"4GQ6","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"4I80","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"4OG3","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"4OG4","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"4OG5","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"4OG6","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"4OG7","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"4OG8","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"4X5Y","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"4X5Z","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5DB0","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5DB1","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5DB2","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5DB3","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5DD9","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5DDA","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5DDB","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5DDC","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5DDD","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5DDE","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5DDF","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"6B41","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"6BXH","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"6BXY","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"6BY8","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"6E1A","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"6O5I","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"6OPJ","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"6PKC","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"6S2K","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"6WNH","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"7M4T","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"7O9T","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"7O9X","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"7O9Z","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"7OA9","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"7UJ4","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"8E90","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"8GPN","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"8IG0","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"8VA5","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"8VA6","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9C4S","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9C4T","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9C4U","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9C4V","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9C4W","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9C4X","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9C4Y","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9C4Z","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9C92","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9C93","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9C94","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9WKU","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9WKV","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9WKW","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9WKX","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9WN9","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9WNA","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9WNI","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9WNJ","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9Z4X","properties":[{"key":"Description","value":"-"}]},{"database":"AlphaFoldDB","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-34195","properties":[{"key":"Description","value":"-"}]},{"database":"MDRepo","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"110384","properties":[{"key":"Interactions","value":"1055"}]},{"database":"ComplexPortal","id":"CPX-497","properties":[{"key":"EntryName","value":"Menin-JUND transcription inhibition complex"}]},{"database":"ComplexPortal","id":"CPX-5850","properties":[{"key":"EntryName","value":"Histone-lysine N-methyltransferase complex, KMT2A variant"}]},{"database":"ComplexPortal","id":"CPX-7062","properties":[{"key":"EntryName","value":"Histone-lysine N-methyltransferase complex, KMT2B variant"}]},{"database":"CORUM","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"DIP","id":"DIP-24236N","properties":[{"key":"Description","value":"-"}]},{"database":"FunCoup","id":"O00255","properties":[{"key":"Number of interactors","value":"2164"}]},{"database":"IntAct","id":"O00255","properties":[{"key":"Interactions","value":"54"}]},{"database":"MINT","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"NDEx","id":"IQUERY-CP-MEN1","properties":[{"key":"Evidences","value":"3 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000337088","properties":[{"key":"Description","value":"-"}]},{"database":"BindingDB","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"ChEMBL","id":"CHEMBL1615381","properties":[{"key":"Description","value":"-"}]},{"database":"DrugBank","id":"DB18515","properties":[{"key":"GenericName","value":"Revumenib"}]},{"database":"DrugBank","id":"DB17171","properties":[{"key":"GenericName","value":"Ziftomenib"}]},{"database":"DrugCentral","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"GlyGen","id":"O00255","properties":[{"key":"glycosylation","value":"3 sites, 1 N-linked glycan (1 site)"}]},{"database":"iPTMnet","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"MEN1","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000337088","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"47808","properties":[{"key":"Description","value":"-"}],"isoformId":"O00255-1"},{"database":"ProteomicsDB","id":"47809","properties":[{"key":"Description","value":"-"}],"isoformId":"O00255-2"},{"database":"ProteomicsDB","id":"47810","properties":[{"key":"Description","value":"-"}],"isoformId":"O00255-3"},{"database":"Pumba","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"ABCD","id":"O00255","properties":[{"key":"antibodies","value":"2 sequenced antibodies"}]},{"database":"Antibodypedia","id":"15626","properties":[{"key":"antibodies","value":"559 antibodies from 47 providers"}]},{"database":"CPTC","id":"O00255","properties":[{"key":"antibodies","value":"1 antibody"}]},{"database":"DNASU","id":"4221","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000312049.11","properties":[{"key":"ProteinId","value":"ENSP00000308975.6"},{"key":"GeneId","value":"ENSG00000133895.20"}],"isoformId":"O00255-2"},{"database":"Ensembl","id":"ENST00000315422.9","properties":[{"key":"ProteinId","value":"ENSP00000323747.4"},{"key":"GeneId","value":"ENSG00000133895.20"}],"isoformId":"O00255-2"},{"database":"Ensembl","id":"ENST00000377313.7","properties":[{"key":"ProteinId","value":"ENSP00000366530.1"},{"key":"GeneId","value":"ENSG00000133895.20"}],"isoformId":"O00255-1"},{"database":"Ensembl","id":"ENST00000377326.7","properties":[{"key":"ProteinId","value":"ENSP00000366543.3"},{"key":"GeneId","value":"ENSG00000133895.20"}],"isoformId":"O00255-2"},{"database":"Ensembl","id":"ENST00000413626.2","properties":[{"key":"ProteinId","value":"ENSP00000411218.2"},{"key":"GeneId","value":"ENSG00000133895.20"}],"isoformId":"O00255-2"},{"database":"Ensembl","id":"ENST00000424912.2","properties":[{"key":"ProteinId","value":"ENSP00000388016.2"},{"key":"GeneId","value":"ENSG00000133895.20"}],"isoformId":"O00255-2"},{"database":"Ensembl","id":"ENST00000429702.6","properties":[{"key":"ProteinId","value":"ENSP00000402752.2"},{"key":"GeneId","value":"ENSG00000133895.20"}],"isoformId":"O00255-2"},{"database":"Ensembl","id":"ENST00000440873.6","properties":[{"key":"ProteinId","value":"ENSP00000413944.2"},{"key":"GeneId","value":"ENSG00000133895.20"}],"isoformId":"O00255-2"},{"database":"Ensembl","id":"ENST00000450708.7","properties":[{"key":"ProteinId","value":"ENSP00000394933.3"},{"key":"GeneId","value":"ENSG00000133895.20"}],"isoformId":"O00255-2"},{"database":"Ensembl","id":"ENST00000710881.1","properties":[{"key":"ProteinId","value":"ENSP00000518530.1"},{"key":"GeneId","value":"ENSG00000133895.20"}],"isoformId":"O00255-1"},{"database":"Ensembl","id":"ENST00000864594.1","properties":[{"key":"ProteinId","value":"ENSP00000534653.1"},{"key":"GeneId","value":"ENSG00000133895.20"}],"isoformId":"O00255-2"},{"database":"Ensembl","id":"ENST00000864600.1","properties":[{"key":"ProteinId","value":"ENSP00000534659.1"},{"key":"GeneId","value":"ENSG00000133895.20"}],"isoformId":"O00255-1"},{"database":"Ensembl","id":"ENST00000864601.1","properties":[{"key":"ProteinId","value":"ENSP00000534660.1"},{"key":"GeneId","value":"ENSG00000133895.20"}],"isoformId":"O00255-1"},{"database":"Ensembl","id":"ENST00000917708.1","properties":[{"key":"ProteinId","value":"ENSP00000587767.1"},{"key":"GeneId","value":"ENSG00000133895.20"}],"isoformId":"O00255-1"},{"database":"Ensembl","id":"ENST00000917710.1","properties":[{"key":"ProteinId","value":"ENSP00000587769.1"},{"key":"GeneId","value":"ENSG00000133895.20"}],"isoformId":"O00255-1"},{"database":"GeneID","id":"4221","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:4221","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000450708.7","properties":[{"key":"ProteinId","value":"ENSP00000394933.3"},{"key":"RefSeqNucleotideId","value":"NM_001370259.2"},{"key":"RefSeqProteinId","value":"NP_001357188.2"}]},{"database":"UCSC","id":"uc001obl.4","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"O00255-2"},{"database":"AGR","id":"HGNC:7010","properties":[{"key":"Description","value":"-"}]},{"database":"CIViC","id":"4221","properties":[{"key":"Number of evidences","value":"10 evidence items across 10 molecular profiles"}]},{"database":"ClinPGx","id":"PA30746","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"4221","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"4221","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"MEN1","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"MEN1","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:7010","properties":[{"key":"GeneName","value":"MEN1"}]},{"database":"HPA","id":"ENSG00000133895","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"MEN1","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"131100","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"613733","properties":[{"key":"Type","value":"gene"}]},{"database":"OpenTargets","id":"ENSG00000133895","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"99879","properties":[{"key":"Disease","value":"Familial isolated hyperparathyroidism"}]},{"database":"Orphanet","id":"97279","properties":[{"key":"Disease","value":"Insulinoma"}]},{"database":"Orphanet","id":"652","properties":[{"key":"Disease","value":"Multiple endocrine neoplasia type 1"}]},{"database":"Orphanet","id":"314790","properties":[{"key":"Disease","value":"Null pituitary adenoma"}]},{"database":"Orphanet","id":"99725","properties":[{"key":"Disease","value":"Pituitary gigantism"}]},{"database":"Orphanet","id":"2965","properties":[{"key":"Disease","value":"Prolactinoma"}]},{"database":"Orphanet","id":"314786","properties":[{"key":"Disease","value":"Silent pituitary adenoma"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000133895","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"ENOG502QUYK","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00390000014237","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_018646_0_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"5962932at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"O00255","properties":[{"key":"Number of GO annotations","value":"8 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-201722","properties":[{"key":"PathwayName","value":"Formation of the beta-catenin:TCF transactivating complex"}]},{"database":"Reactome","id":"R-HSA-2173796","properties":[{"key":"PathwayName","value":"SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription"}]},{"database":"Reactome","id":"R-HSA-3769402","properties":[{"key":"PathwayName","value":"Deactivation of the beta-catenin transactivating complex"}]},{"database":"Reactome","id":"R-HSA-381426","properties":[{"key":"PathwayName","value":"Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)"}]},{"database":"Reactome","id":"R-HSA-5626467","properties":[{"key":"PathwayName","value":"RHO GTPases activate IQGAPs"}]},{"database":"Reactome","id":"R-HSA-8957275","properties":[{"key":"PathwayName","value":"Post-translational protein phosphorylation"}]},{"database":"Reactome","id":"R-HSA-9772755","properties":[{"key":"PathwayName","value":"Formation of WDR5-containing histone-modifying complexes"}]},{"database":"Reactome","id":"R-HSA-9976102","properties":[{"key":"PathwayName","value":"Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)"}]},{"database":"SignaLink","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000133895","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"4221","properties":[{"key":"hits","value":"182 hits in 1189 CRISPR screens"}]},{"database":"ChiTaRS","id":"MEN1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"EvolutionaryTrace","id":"O00255","properties":[{"key":"Description","value":"-"}]},{"database":"GeneWiki","id":"MEN1","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"4221","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"O00255","properties":[{"key":"DevelopmentLevel","value":"Tchem"}]},{"database":"PRO","id":"PR:O00255","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 11"}]},{"database":"RNAct","id":"O00255","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000133895","properties":[{"key":"ExpressionPatterns","value":"Expressed in granulocyte and 181 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"O00255","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0000785","properties":[{"key":"GoTerm","value":"C:chromatin"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"12874027"}]},{"database":"GO","id":"GO:0000781","properties":[{"key":"GoTerm","value":"C:chromosome, telomeric region"},{"key":"GoEvidenceType","value":"ISS:BHF-UCL"}]},{"database":"GO","id":"GO:0032154","properties":[{"key":"GoTerm","value":"C:cleavage furrow"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"14508515"}]},{"database":"GO","id":"GO:0005737","properties":[{"key":"GoTerm","value":"C:cytoplasm"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"11500056"}]},{"database":"GO","id":"GO:0005829","properties":[{"key":"GoTerm","value":"C:cytosol"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"14508515"}]},{"database":"GO","id":"GO:0005788","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum lumen"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0035097","properties":[{"key":"GoTerm","value":"C:histone methyltransferase complex"},{"key":"GoEvidenceType","value":"IDA:MGI"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17500065"}]},{"database":"GO","id":"GO:0071339","properties":[{"key":"GoTerm","value":"C:MLL1 complex"},{"key":"GoEvidenceType","value":"IPI:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000353","source":"PubMed","id":"23508102"}]},{"database":"GO","id":"GO:0044665","properties":[{"key":"GoTerm","value":"C:MLL1/2 complex"},{"key":"GoEvidenceType","value":"IPI:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000353","source":"PubMed","id":"23508102"}]},{"database":"GO","id":"GO:0016363","properties":[{"key":"GoTerm","value":"C:nuclear matrix"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"12874027"}]},{"database":"GO","id":"GO:0005654","properties":[{"key":"GoTerm","value":"C:nucleoplasm"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"GO","id":"GO:0005634","properties":[{"key":"GoTerm","value":"C:nucleus"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"14508515"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"15199122"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"9465067"}]},{"database":"GO","id":"GO:0032991","properties":[{"key":"GoTerm","value":"C:protein-containing complex"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"15199122"}]},{"database":"GO","id":"GO:0017053","properties":[{"key":"GoTerm","value":"C:transcription repressor complex"},{"key":"GoEvidenceType","value":"IPI:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000353","source":"PubMed","id":"22327296"}]},{"database":"GO","id":"GO:0003682","properties":[{"key":"GoTerm","value":"F:chromatin binding"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0001216","properties":[{"key":"GoTerm","value":"F:DNA-binding transcription activator activity"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0003690","properties":[{"key":"GoTerm","value":"F:double-stranded DNA binding"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"15331604"}]},{"database":"GO","id":"GO:0000400","properties":[{"key":"GoTerm","value":"F:four-way junction DNA binding"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"15331604"}]},{"database":"GO","id":"GO:0051219","properties":[{"key":"GoTerm","value":"F:phosphoprotein binding"},{"key":"GoEvidenceType","value":"IPI:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000353","source":"PubMed","id":"14992727"}]},{"database":"GO","id":"GO:0030674","properties":[{"key":"GoTerm","value":"F:protein-macromolecule adaptor activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"20484083"}]},{"database":"GO","id":"GO:0070412","properties":[{"key":"GoTerm","value":"F:R-SMAD binding"},{"key":"GoEvidenceType","value":"IPI:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000353","source":"PubMed","id":"11274402"}]},{"database":"GO","id":"GO:0000976","properties":[{"key":"GoTerm","value":"F:transcription cis-regulatory region binding"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"20484083"}]},{"database":"GO","id":"GO:0000403","properties":[{"key":"GoTerm","value":"F:Y-form DNA binding"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"15331604"}]},{"database":"GO","id":"GO:0006974","properties":[{"key":"GoTerm","value":"P:DNA damage response"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"16690369"}]},{"database":"GO","id":"GO:0006281","properties":[{"key":"GoTerm","value":"P:DNA repair"},{"key":"GoEvidenceType","value":"NAS:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12874027"}]},{"database":"GO","id":"GO:0045786","properties":[{"key":"GoTerm","value":"P:negative regulation of cell cycle"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"15331604"}]},{"database":"GO","id":"GO:0008285","properties":[{"key":"GoTerm","value":"P:negative regulation of cell population proliferation"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0045892","properties":[{"key":"GoTerm","value":"P:negative regulation of DNA-templated transcription"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"12226747"}]},{"database":"GO","id":"GO:0046329","properties":[{"key":"GoTerm","value":"P:negative regulation of JNK cascade"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"12226747"}]},{"database":"GO","id":"GO:0045668","properties":[{"key":"GoTerm","value":"P:negative regulation of osteoblast differentiation"},{"key":"GoEvidenceType","value":"IGI:MGI"}],"evidences":[{"evidenceCode":"ECO:0000316","source":"PubMed","id":"15563473"}]},{"database":"GO","id":"GO:0000122","properties":[{"key":"GoTerm","value":"P:negative regulation of transcription by RNA polymerase II"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"9989505"}]},{"database":"GO","id":"GO:0002076","properties":[{"key":"GoTerm","value":"P:osteoblast development"},{"key":"GoEvidenceType","value":"IGI:MGI"}],"evidences":[{"evidenceCode":"ECO:0000316","source":"PubMed","id":"15563473"}]},{"database":"GO","id":"GO:0045944","properties":[{"key":"GoTerm","value":"P:positive regulation of transcription by RNA polymerase II"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"15199122"}]},{"database":"GO","id":"GO:0030511","properties":[{"key":"GoTerm","value":"P:positive regulation of transforming growth factor beta receptor signaling pathway"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"11274402"}]},{"database":"GO","id":"GO:0006357","properties":[{"key":"GoTerm","value":"P:regulation of transcription by RNA polymerase II"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0010332","properties":[{"key":"GoTerm","value":"P:response to gamma radiation"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"12874027"}]},{"database":"GO","id":"GO:0009411","properties":[{"key":"GoTerm","value":"P:response to UV"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"16690369"}]},{"database":"GO","id":"GO:0045064","properties":[{"key":"GoTerm","value":"P:T-helper 2 cell differentiation"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"20484083"}]},{"database":"GO","id":"GO:0045815","properties":[{"key":"GoTerm","value":"P:transcription initiation-coupled chromatin remodeling"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"14992727"}]},{"database":"CDD","id":"cd14456","properties":[{"key":"EntryName","value":"Menin"},{"key":"MatchStatus","value":"1"}]},{"database":"IDEAL","id":"IID00404","properties":[{"key":"Description","value":"-"}]},{"database":"InterPro","id":"IPR007747","properties":[{"key":"EntryName","value":"Menin"}]},{"database":"PANTHER","id":"PTHR12693","properties":[{"key":"EntryName","value":"MENIN"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR12693:SF3","properties":[{"key":"EntryName","value":"MENIN"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF05053","properties":[{"key":"EntryName","value":"Menin"},{"key":"MatchStatus","value":"2"}]}],"sequence":{"value":"MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQPSPAPDPPGGLTYFPVADLSIIAALYARFTAQIRGAVDLSLYPREGGVSSRELVKKVSDVIWNSLSRSYFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGPNGEQTAEVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERYPMALGNLADLEELEPTPGRPDPLTLYHKGIASAKTYYRDEHIYPYMYLAGYHCRNRNVREALQAWADTATVIQDYNYCREDEEIYKEFFEVANDVIPNLLKEAASLLEAGEERPGEQSQGTQSQGSALQDPECFAHLLRFYDGICKWEEGSPTPVLHVGWATFLVQSLGRFEGQVRQKVRIVSREAEAAEAEEPWGEEAREGRRRGPRRESKPEEPPPPKKPALDKGLGTGQGAVSGPPRKPPGTVAGTARGPEGGSTAQVPAPTASPPPEGPVLTFQSEKMKGMKELLVATKINSSAIKLQLTAQSQVQMKKQKVSTPSDYTLSFLKRQRKGL","length":610,"molWeight":67497,"crc64":"9BF844C0302B43EF","md5":"26F1B28A209D9DA91E86A4A4A1CAC553"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"SUBUNIT":1,"INTERACTION":12,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":3,"TISSUE SPECIFICITY":1,"DISEASE":2,"SEQUENCE CAUTION":2,"WEB RESOURCE":1},"countByFeatureType":{"Chain":1,"Region":2,"Compositional bias":1,"Modified residue":3,"Alternative sequence":3,"Natural variant":112,"Mutagenesis":9,"Helix":36,"Beta strand":14,"Turn":2},"uniParcId":"UPI0000228E6B"}}