{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q9UPS6","secondaryAccessions":["F6MFW1"],"uniProtkbId":"SET1B_HUMAN","entryAudit":{"firstPublicDate":"2008-02-05","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2014-03-19","entryVersion":180,"sequenceVersion":3},"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":"Histone-lysine N-methyltransferase SETD1B"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25561738"}],"value":"2.1.1.364"}]},"alternativeNames":[{"fullName":{"value":"Lysine N-methyltransferase 2G"}},{"fullName":{"value":"SET domain-containing protein 1B"},"shortNames":[{"value":"hSET1B"}]}]},"genes":[{"geneName":{"value":"SETD1B"},"synonyms":[{"value":"KIAA1076"},{"value":"KMT2G"},{"value":"SET1B"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8CFT2"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17355966"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25561738"}],"value":"Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism (PubMed:17355966, PubMed:25561738). Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:17355966, PubMed:25561738). Plays an essential role in regulating the transcriptional programming of multipotent hematopoietic progenitor cells and lymphoid lineage specification during hematopoiesis (By similarity)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:60264"},{"database":"Rhea","id":"RHEA-COMP:15543"},{"database":"Rhea","id":"RHEA-COMP:15547"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:29969"},{"database":"ChEBI","id":"CHEBI:57856"},{"database":"ChEBI","id":"CHEBI:59789"},{"database":"ChEBI","id":"CHEBI:61929"}],"ecNumber":"2.1.1.364","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25561738"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:60265"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"25561738"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = N(6),N(6)-dimethyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:60268"},{"database":"Rhea","id":"RHEA-COMP:15540"},{"database":"Rhea","id":"RHEA-COMP:15543"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:57856"},{"database":"ChEBI","id":"CHEBI:59789"},{"database":"ChEBI","id":"CHEBI:61929"},{"database":"ChEBI","id":"CHEBI:61976"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17355966"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25561738"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:60269"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"17355966"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"25561738"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"N(6),N(6)-dimethyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = N(6),N(6),N(6)-trimethyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:60272"},{"database":"Rhea","id":"RHEA-COMP:15537"},{"database":"Rhea","id":"RHEA-COMP:15540"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:57856"},{"database":"ChEBI","id":"CHEBI:59789"},{"database":"ChEBI","id":"CHEBI:61961"},{"database":"ChEBI","id":"CHEBI:61976"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17355966"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25561738"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:60273"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"17355966"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"25561738"}]}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17355966"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17998332"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18838538"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22927943"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23508102"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25561738"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37030068"}],"value":"Component of the SET1B/COMPASS complex composed of the catalytic subunit SETD1B, WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1, DPY30 homotrimer and BOD1 (PubMed:17355966, PubMed:18838538, PubMed:23508102). Forms a core complex with the evolutionary conserved subcomplex WRAD composed of WDR5, RBBP5, ASH2L/ASH2 and DPY30 subunits; WRAD differentially stimulates the methyltransferase activity (PubMed:25561738). Interacts with HCFC1 and ASH2L/ASH2 (PubMed:17998332). Interacts (via N-terminal region) with WDR82 (PubMed:17998332, PubMed:37030068). Interacts (via the RRM domain) with hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A) only in the presence of WDR82 (PubMed:17998332). Binds specifically to CTD heptad repeats phosphorylated on 'Ser-5' of each heptad. Interacts with RBM15 (PubMed:22927943). Interacts (via WIN motif) with WDR5 (PubMed:22266653, PubMed:22665483)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q9UPS6-2","intActId":"EBI-16197836"},"interactantTwo":{"uniProtKBAccession":"Q9UBL3-3","geneName":"ASH2L","intActId":"EBI-16130425"},"numberOfExperiments":2,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17355966"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38003223"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"38003223"}],"value":"Localizes to a largely non-overlapping set of euchromatic nuclear speckles with SETD1A, suggesting that SETD1A and SET1B each bind to a unique set of target genes (Probable) (PubMed:17355966). Predominantly nuclear (PubMed:38003223)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38003223"}],"value":"Nucleus","id":"SL-0191"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17355966"}],"value":"Nucleus speckle","id":"SL-0186"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17355966"}],"value":"Chromosome","id":"SL-0468"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38003223"}],"value":"Cytoplasm","id":"SL-0086"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q9UPS6-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q9UPS6-2"],"sequenceIds":["VSP_053875","VSP_053876"],"isoformSequenceStatus":"Described"}]},{"commentType":"DISEASE","disease":{"diseaseId":"Intellectual developmental disorder with seizures and language delay","diseaseAccession":"DI-05906","acronym":"IDDSELD","description":"An autosomal dominant neurodevelopmental disorder characterized by mild to profound intellectual development impairment, speech and language delay, and seizures. Autism and anxiety are common features. Facial dysmorphism, tapering fingers, and pigmentary skin changes may also be observed.","diseaseCrossReference":{"database":"MIM","id":"619000"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29322246"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31110234"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31440728"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31685013"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32546566"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00190"}],"value":"Belongs to the class V-like SAM-binding methyltransferase superfamily"}],"commentType":"SIMILARITY"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1966,"modifier":"EXACT"}},"description":"Histone-lysine N-methyltransferase SETD1B","featureId":"PRO_0000316993"},{"type":"Domain","location":{"start":{"value":93,"modifier":"EXACT"},"end":{"value":181,"modifier":"EXACT"}},"description":"RRM","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00176"}]},{"type":"Domain","location":{"start":{"value":1827,"modifier":"EXACT"},"end":{"value":1944,"modifier":"EXACT"}},"description":"SET","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00190"}]},{"type":"Domain","location":{"start":{"value":1950,"modifier":"EXACT"},"end":{"value":1966,"modifier":"EXACT"}},"description":"Post-SET","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00155"}]},{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":26,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":68,"modifier":"EXACT"},"end":{"value":98,"modifier":"EXACT"}},"description":"Interaction with WDR82","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37030068"}]},{"type":"Region","location":{"start":{"value":235,"modifier":"EXACT"},"end":{"value":302,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":357,"modifier":"EXACT"},"end":{"value":660,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":675,"modifier":"EXACT"},"end":{"value":719,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":963,"modifier":"EXACT"},"end":{"value":1462,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1501,"modifier":"EXACT"},"end":{"value":1541,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1555,"modifier":"EXACT"},"end":{"value":1606,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1636,"modifier":"EXACT"},"end":{"value":1668,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1767,"modifier":"EXACT"},"end":{"value":1800,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Coiled coil","location":{"start":{"value":1173,"modifier":"EXACT"},"end":{"value":1204,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Motif","location":{"start":{"value":1745,"modifier":"EXACT"},"end":{"value":1750,"modifier":"EXACT"}},"description":"WDR5 interaction motif (WIN)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22266653"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22665483"}]},{"type":"Motif","location":{"start":{"value":1798,"modifier":"EXACT"},"end":{"value":1803,"modifier":"EXACT"}},"description":"RxxxRR motif","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P38827"}]},{"type":"Compositional bias","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":12,"modifier":"EXACT"}},"description":"Basic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":243,"modifier":"EXACT"},"end":{"value":259,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":265,"modifier":"EXACT"},"end":{"value":274,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":282,"modifier":"EXACT"},"end":{"value":300,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":432,"modifier":"EXACT"},"end":{"value":441,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":449,"modifier":"EXACT"},"end":{"value":458,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":493,"modifier":"EXACT"},"end":{"value":521,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":531,"modifier":"EXACT"},"end":{"value":543,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":592,"modifier":"EXACT"},"end":{"value":603,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":637,"modifier":"EXACT"},"end":{"value":646,"modifier":"EXACT"}},"description":"Acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":679,"modifier":"EXACT"},"end":{"value":719,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":995,"modifier":"EXACT"},"end":{"value":1015,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1041,"modifier":"EXACT"},"end":{"value":1064,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1067,"modifier":"EXACT"},"end":{"value":1087,"modifier":"EXACT"}},"description":"Acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1104,"modifier":"EXACT"},"end":{"value":1142,"modifier":"EXACT"}},"description":"Acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1148,"modifier":"EXACT"},"end":{"value":1174,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1175,"modifier":"EXACT"},"end":{"value":1197,"modifier":"EXACT"}},"description":"Acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1229,"modifier":"EXACT"},"end":{"value":1238,"modifier":"EXACT"}},"description":"Acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1312,"modifier":"EXACT"},"end":{"value":1340,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1383,"modifier":"EXACT"},"end":{"value":1425,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1501,"modifier":"EXACT"},"end":{"value":1514,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1515,"modifier":"EXACT"},"end":{"value":1524,"modifier":"EXACT"}},"description":"Basic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1580,"modifier":"EXACT"},"end":{"value":1600,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Binding site","location":{"start":{"value":1943,"modifier":"EXACT"},"end":{"value":1943,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:59789"}],"evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00190"}],"ligand":{"name":"S-adenosyl-L-methionine","id":"ChEBI:CHEBI:59789"}},{"type":"Modified residue","location":{"start":{"value":986,"modifier":"EXACT"},"end":{"value":986,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":994,"modifier":"EXACT"},"end":{"value":994,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":1031,"modifier":"EXACT"},"end":{"value":1031,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":1265,"modifier":"EXACT"},"end":{"value":1265,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8CFT2"}]},{"type":"Modified residue","location":{"start":{"value":1283,"modifier":"EXACT"},"end":{"value":1283,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8CFT2"}]},{"type":"Modified residue","location":{"start":{"value":1335,"modifier":"EXACT"},"end":{"value":1335,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"24275569"}]},{"type":"Modified residue","location":{"start":{"value":1659,"modifier":"EXACT"},"end":{"value":1659,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"19690332"}]},{"type":"Modified residue","location":{"start":{"value":1663,"modifier":"EXACT"},"end":{"value":1663,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8CFT2"}]},{"type":"Alternative sequence","location":{"start":{"value":1043,"modifier":"EXACT"},"end":{"value":1068,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000305"}],"featureId":"VSP_053875","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":1088,"modifier":"EXACT"},"end":{"value":1104,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000305"}],"featureId":"VSP_053876","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":129,"modifier":"EXACT"},"end":{"value":129,"modifier":"EXACT"}},"description":"in IDDSELD","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31440728"}],"featureId":"VAR_084717","alternativeSequence":{"originalSequence":"V","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":978,"modifier":"EXACT"},"end":{"value":1966,"modifier":"EXACT"}},"description":"in IDDSELD","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32546566"}],"featureId":"VAR_084718","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":1322,"modifier":"EXACT"},"end":{"value":1966,"modifier":"EXACT"}},"description":"in IDDSELD","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32546566"}],"featureId":"VAR_084719","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":1885,"modifier":"EXACT"},"end":{"value":1885,"modifier":"EXACT"}},"description":"in IDDSELD","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29322246"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31685013"}],"featureId":"VAR_084720","alternativeSequence":{"originalSequence":"R","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":1902,"modifier":"EXACT"},"end":{"value":1902,"modifier":"EXACT"}},"description":"in IDDSELD","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29322246"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31685013"}],"featureId":"VAR_084721","alternativeSequence":{"originalSequence":"R","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":1945,"modifier":"EXACT"},"end":{"value":1945,"modifier":"EXACT"}},"description":"in IDDSELD","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32546566"}],"featureId":"VAR_084722","alternativeSequence":{"originalSequence":"F","alternativeSequences":["L"]}},{"type":"Mutagenesis","location":{"start":{"value":577,"modifier":"EXACT"},"end":{"value":577,"modifier":"EXACT"}},"description":"Abolishes interaction with RBM15.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22927943"}],"alternativeSequence":{"originalSequence":"L","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":579,"modifier":"EXACT"},"end":{"value":579,"modifier":"EXACT"}},"description":"Abolishes interaction with RBM15.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22927943"}],"alternativeSequence":{"originalSequence":"D","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":1905,"modifier":"EXACT"},"end":{"value":1905,"modifier":"EXACT"}},"description":"Abolishes interaction with S-adenosyl-L-methionine.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25561738"}],"alternativeSequence":{"originalSequence":"N","alternativeSequences":["A"]}},{"type":"Beta strand","location":{"start":{"value":104,"modifier":"EXACT"},"end":{"value":109,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"8ILZ"}]},{"type":"Helix","location":{"start":{"value":116,"modifier":"EXACT"},"end":{"value":124,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"8ILZ"}]},{"type":"Beta strand","location":{"start":{"value":129,"modifier":"EXACT"},"end":{"value":136,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"8ILZ"}]},{"type":"Turn","location":{"start":{"value":138,"modifier":"EXACT"},"end":{"value":140,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"8ILZ"}]},{"type":"Beta strand","location":{"start":{"value":143,"modifier":"EXACT"},"end":{"value":153,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"8ILZ"}]},{"type":"Helix","location":{"start":{"value":154,"modifier":"EXACT"},"end":{"value":164,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"8ILZ"}]},{"type":"Beta strand","location":{"start":{"value":175,"modifier":"EXACT"},"end":{"value":178,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"8ILZ"}]},{"type":"Helix","location":{"start":{"value":183,"modifier":"EXACT"},"end":{"value":193,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"8ILZ"}]},{"type":"Turn","location":{"start":{"value":199,"modifier":"EXACT"},"end":{"value":201,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"8ILZ"}]},{"type":"Helix","location":{"start":{"value":1747,"modifier":"EXACT"},"end":{"value":1750,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"4ES0"}]}],"keywords":[{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0010","category":"Molecular function","name":"Activator"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0156","category":"Molecular function","name":"Chromatin regulator"},{"id":"KW-0158","category":"Cellular component","name":"Chromosome"},{"id":"KW-0175","category":"Domain","name":"Coiled coil"},{"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0887","category":"Disease","name":"Epilepsy"},{"id":"KW-0991","category":"Disease","name":"Intellectual disability"},{"id":"KW-0489","category":"Molecular function","name":"Methyltransferase"},{"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-0694","category":"Molecular function","name":"RNA-binding"},{"id":"KW-0949","category":"Ligand","name":"S-adenosyl-L-methionine"},{"id":"KW-0804","category":"Biological process","name":"Transcription"},{"id":"KW-0805","category":"Biological process","name":"Transcription regulation"},{"id":"KW-0808","category":"Molecular function","name":"Transferase"}],"references":[{"referenceNumber":1,"citation":{"id":"22927943","citationType":"journal article","authors":["Lee J.H.","Skalnik D.G."],"citationCrossReferences":[{"database":"PubMed","id":"22927943"},{"database":"DOI","id":"10.1371/journal.pone.0042965"}],"title":"Rbm15-Mkl1 interacts with the Setd1b histone H3-Lys4 methyltransferase via a SPOC domain that is required for cytokine-independent proliferation.","publicationDate":"2012","journal":"PLoS ONE","firstPage":"E42965","lastPage":"E42965","volume":"7"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)","INTERACTION WITH RBM15","MUTAGENESIS OF LEU-577 AND ASP-579"]},{"referenceNumber":2,"citation":{"id":"16541075","citationType":"journal article","authors":["Scherer S.E.","Muzny D.M.","Buhay C.J.","Chen R.","Cree A.","Ding Y.","Dugan-Rocha S.","Gill R.","Gunaratne P.","Harris R.A.","Hawes A.C.","Hernandez J.","Hodgson A.V.","Hume J.","Jackson A.","Khan Z.M.","Kovar-Smith C.","Lewis L.R.","Lozado R.J.","Metzker M.L.","Milosavljevic A.","Miner G.R.","Montgomery K.T.","Morgan M.B.","Nazareth L.V.","Scott G.","Sodergren E.","Song X.-Z.","Steffen D.","Lovering R.C.","Wheeler D.A.","Worley K.C.","Yuan Y.","Zhang Z.","Adams C.Q.","Ansari-Lari M.A.","Ayele M.","Brown M.J.","Chen G.","Chen Z.","Clerc-Blankenburg K.P.","Davis C.","Delgado O.","Dinh H.H.","Draper H.","Gonzalez-Garay M.L.","Havlak P.","Jackson L.R.","Jacob L.S.","Kelly S.H.","Li L.","Li Z.","Liu J.","Liu W.","Lu J.","Maheshwari M.","Nguyen B.-V.","Okwuonu G.O.","Pasternak S.","Perez L.M.","Plopper F.J.H.","Santibanez J.","Shen H.","Tabor P.E.","Verduzco D.","Waldron L.","Wang Q.","Williams G.A.","Zhang J.","Zhou J.","Allen C.C.","Amin A.G.","Anyalebechi V.","Bailey M.","Barbaria J.A.","Bimage K.E.","Bryant N.P.","Burch P.E.","Burkett C.E.","Burrell K.L.","Calderon E.","Cardenas V.","Carter K.","Casias K.","Cavazos I.","Cavazos S.R.","Ceasar H.","Chacko J.","Chan S.N.","Chavez D.","Christopoulos C.","Chu J.","Cockrell R.","Cox C.D.","Dang M.","Dathorne S.R.","David R.","Davis C.M.","Davy-Carroll L.","Deshazo D.R.","Donlin J.E.","D'Souza L.","Eaves K.A.","Egan A.","Emery-Cohen A.J.","Escotto M.","Flagg N.","Forbes L.D.","Gabisi A.M.","Garza M.","Hamilton C.","Henderson N.","Hernandez O.","Hines S.","Hogues M.E.","Huang M.","Idlebird D.G.","Johnson R.","Jolivet A.","Jones S.","Kagan R.","King L.M.","Leal B.","Lebow H.","Lee S.","LeVan J.M.","Lewis L.C.","London P.","Lorensuhewa L.M.","Loulseged H.","Lovett D.A.","Lucier A.","Lucier R.L.","Ma J.","Madu R.C.","Mapua P.","Martindale A.D.","Martinez E.","Massey E.","Mawhiney S.","Meador M.G.","Mendez S.","Mercado C.","Mercado I.C.","Merritt C.E.","Miner Z.L.","Minja E.","Mitchell T.","Mohabbat F.","Mohabbat K.","Montgomery B.","Moore N.","Morris S.","Munidasa M.","Ngo R.N.","Nguyen N.B.","Nickerson E.","Nwaokelemeh O.O.","Nwokenkwo S.","Obregon M.","Oguh M.","Oragunye N.","Oviedo R.J.","Parish B.J.","Parker D.N.","Parrish J.","Parks K.L.","Paul H.A.","Payton B.A.","Perez A.","Perrin W.","Pickens A.","Primus E.L.","Pu L.-L.","Puazo M.","Quiles M.M.","Quiroz J.B.","Rabata D.","Reeves K.","Ruiz S.J.","Shao H.","Sisson I.","Sonaike T.","Sorelle R.P.","Sutton A.E.","Svatek A.F.","Svetz L.A.","Tamerisa K.S.","Taylor T.R.","Teague B.","Thomas N.","Thorn R.D.","Trejos Z.Y.","Trevino B.K.","Ukegbu O.N.","Urban J.B.","Vasquez L.I.","Vera V.A.","Villasana D.M.","Wang L.","Ward-Moore S.","Warren J.T.","Wei X.","White F.","Williamson A.L.","Wleczyk R.","Wooden H.S.","Wooden S.H.","Yen J.","Yoon L.","Yoon V.","Zorrilla S.E.","Nelson D.","Kucherlapati R.","Weinstock G.","Gibbs R.A."],"citationCrossReferences":[{"database":"PubMed","id":"16541075"},{"database":"DOI","id":"10.1038/nature04569"}],"title":"The finished DNA sequence of human chromosome 12.","publicationDate":"2006","journal":"Nature","firstPage":"346","lastPage":"351","volume":"440"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":3,"citation":{"id":"10470851","citationType":"journal article","authors":["Kikuno R.","Nagase T.","Ishikawa K.","Hirosawa M.","Miyajima N.","Tanaka A.","Kotani H.","Nomura N.","Ohara O."],"citationCrossReferences":[{"database":"PubMed","id":"10470851"},{"database":"DOI","id":"10.1093/dnares/6.3.197"}],"title":"Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.","publicationDate":"1999","journal":"DNA Res.","firstPage":"197","lastPage":"205","volume":"6"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1163-1966 (ISOFORM 1/2)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":4,"citation":{"id":"17355966","citationType":"journal article","authors":["Lee J.-H.","Tate C.M.","You J.-S.","Skalnik D.G."],"citationCrossReferences":[{"database":"PubMed","id":"17355966"},{"database":"DOI","id":"10.1074/jbc.m609809200"}],"title":"Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex.","publicationDate":"2007","journal":"J. Biol. Chem.","firstPage":"13419","lastPage":"13428","volume":"282"},"referencePositions":["FUNCTION","CATALYTIC ACTIVITY","SUBCELLULAR LOCATION","IDENTIFICATION IN THE SET1 COMPLEX"]},{"referenceNumber":5,"citation":{"id":"17998332","citationType":"journal article","authors":["Lee J.H.","Skalnik D.G."],"citationCrossReferences":[{"database":"PubMed","id":"17998332"},{"database":"DOI","id":"10.1128/mcb.01356-07"}],"title":"Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A Histone H3-Lys4 methyltransferase complex to transcription start sites of transcribed human genes.","publicationDate":"2008","journal":"Mol. Cell. Biol.","firstPage":"609","lastPage":"618","volume":"28"},"referencePositions":["IDENTIFICATION IN SET1 COMPLEX","INTERACTION WITH WDR82; ASH2L AND POLR2A"]},{"referenceNumber":6,"citation":{"id":"18838538","citationType":"journal article","authors":["Wu M.","Wang P.F.","Lee J.S.","Martin-Brown S.","Florens L.","Washburn M.","Shilatifard A."],"citationCrossReferences":[{"database":"PubMed","id":"18838538"},{"database":"DOI","id":"10.1128/mcb.00976-08"}],"title":"Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS.","publicationDate":"2008","journal":"Mol. Cell. Biol.","firstPage":"7337","lastPage":"7344","volume":"28"},"referencePositions":["IDENTIFICATION IN SET1 COMPLEX"]},{"referenceNumber":7,"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":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":8,"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":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1659","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Leukemic T-cell","type":"TISSUE"}]},{"referenceNumber":9,"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-986; SER-994 AND SER-1031","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"},{"value":"Erythroleukemia","type":"TISSUE"}]},{"referenceNumber":10,"citation":{"id":"23508102","citationType":"journal article","authors":["van Nuland R.","Smits A.H.","Pallaki P.","Jansen P.W.","Vermeulen M.","Timmers H.T."],"citationCrossReferences":[{"database":"PubMed","id":"23508102"},{"database":"DOI","id":"10.1128/mcb.01742-12"}],"title":"Quantitative dissection and stoichiometry determination of the human SET1/MLL histone methyltransferase complexes.","publicationDate":"2013","journal":"Mol. Cell. Biol.","firstPage":"2067","lastPage":"2077","volume":"33"},"referencePositions":["IDENTIFICATION IN SET1B COMPLEX"]},{"referenceNumber":11,"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-1335","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":12,"citation":{"id":"25561738","citationType":"journal article","authors":["Shinsky S.A.","Monteith K.E.","Viggiano S.","Cosgrove M.S."],"citationCrossReferences":[{"database":"PubMed","id":"25561738"},{"database":"DOI","id":"10.1074/jbc.m114.627646"}],"title":"Biochemical reconstitution and phylogenetic comparison of human SET1 family core complexes involved in histone methylation.","publicationDate":"2015","journal":"J. Biol. Chem.","firstPage":"6361","lastPage":"6375","volume":"290"},"referencePositions":["FUNCTION","CATALYTIC ACTIVITY","SUBUNIT","MUTAGENESIS OF ASN-1905"]},{"referenceNumber":13,"citation":{"id":"31110234","citationType":"journal article","authors":["Den K.","Kato M.","Yamaguchi T.","Miyatake S.","Takata A.","Mizuguchi T.","Miyake N.","Mitsuhashi S.","Matsumoto N."],"citationCrossReferences":[{"database":"PubMed","id":"31110234"},{"database":"DOI","id":"10.1038/s10038-019-0617-1"}],"title":"A novel de novo frameshift variant in SETD1B causes epilepsy.","publicationDate":"2019","journal":"J. Hum. Genet.","firstPage":"821","lastPage":"827","volume":"64"},"referencePositions":["INVOLVEMENT IN IDDSELD"]},{"referenceNumber":14,"citation":{"id":"38003223","citationType":"journal article","authors":["Amin H.M.","Szabo B.","Abukhairan R.","Zeke A.","Kardos J.","Schad E.","Tantos A."],"citationCrossReferences":[{"database":"PubMed","id":"38003223"},{"database":"DOI","id":"10.3390/ijms242216032"}],"title":"In Vivo and In Vitro Characterization of the RNA Binding Capacity of SETD1A (KMT2F).","publicationDate":"2023","journal":"Int. J. Mol. Sci.","firstPage":"16032","lastPage":"16032","volume":"24"},"referencePositions":["SUBCELLULAR LOCATION"]},{"referenceNumber":15,"citation":{"id":"22665483","citationType":"journal article","authors":["Dharmarajan V.","Lee J.H.","Patel A.","Skalnik D.G.","Cosgrove M.S."],"citationCrossReferences":[{"database":"PubMed","id":"22665483"},{"database":"DOI","id":"10.1074/jbc.m112.364125"}],"title":"Structural basis for WDR5 interaction (Win) motif recognition in human SET1 family histone methyltransferases.","publicationDate":"2012","journal":"J. Biol. Chem.","firstPage":"27275","lastPage":"27289","volume":"287"},"referencePositions":["X-RAY CRYSTALLOGRAPHY (1.82 ANGSTROMS) OF 1741-1754 IN COMPLEX WITH WDR5","INTERACTION WITH WDR5","MOTIF WIN"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"4ES0"}]},{"referenceNumber":16,"citation":{"id":"22266653","citationType":"journal article","authors":["Zhang P.","Lee H.","Brunzelle J.S.","Couture J.F."],"citationCrossReferences":[{"database":"PubMed","id":"22266653"},{"database":"DOI","id":"10.1093/nar/gkr1235"}],"title":"The plasticity of WDR5 peptide-binding cleft enables the binding of the SET1 family of histone methyltransferases.","publicationDate":"2012","journal":"Nucleic Acids Res.","firstPage":"4237","lastPage":"4246","volume":"40"},"referencePositions":["X-RAY CRYSTALLOGRAPHY (2.20 ANGSTROMS) OF 1745-1755 IN COMPLEX WITH WDR5","INTERACTION WITH WDR5","MOTIF WIN"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"3UVO"}]},{"referenceNumber":17,"citation":{"id":"37030068","citationType":"journal article","authors":["Bao S.","Xu C."],"citationCrossReferences":[{"database":"PubMed","id":"37030068"},{"database":"DOI","id":"10.1016/j.bbrc.2023.03.064"}],"title":"Molecular insight into the SETD1A/B N-terminal region and its interaction with WDR82.","publicationDate":"2023","journal":"Biochem. Biophys. Res. Commun.","firstPage":"136","lastPage":"140","volume":"658"},"referencePositions":["X-RAY CRYSTALLOGRAPHY (1.77 ANGSTROMS) OF 102-204","INTERACTION WITH WDR82"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"8ILZ"}]},{"referenceNumber":18,"citation":{"id":"29322246","citationType":"journal article","authors":["Hiraide T.","Nakashima M.","Yamoto K.","Fukuda T.","Kato M.","Ikeda H.","Sugie Y.","Aoto K.","Kaname T.","Nakabayashi K.","Ogata T.","Matsumoto N.","Saitsu H."],"citationCrossReferences":[{"database":"PubMed","id":"29322246"},{"database":"DOI","id":"10.1007/s00439-017-1863-y"}],"title":"De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.","publicationDate":"2018","journal":"Hum. Genet.","firstPage":"95","lastPage":"104","volume":"137"},"referencePositions":["VARIANTS IDDSELD TRP-1885 AND CYS-1902","INVOLVEMENT IN IDDSELD"]},{"referenceNumber":19,"citation":{"id":"31685013","citationType":"journal article","authors":["Krzyzewska I.M.","Maas S.M.","Henneman P.","Lip K.V.D.","Venema A.","Baranano K.","Chassevent A.","Aref-Eshghi E.","van Essen A.J.","Fukuda T.","Ikeda H.","Jacquemont M.","Kim H.G.","Labalme A.","Lewis S.M.E.","Lesca G.","Madrigal I.","Mahida S.","Matsumoto N.","Rabionet R.","Rajcan-Separovic E.","Qiao Y.","Sadikovic B.","Saitsu H.","Sweetser D.A.","Alders M.","Mannens M.M.A.M."],"citationCrossReferences":[{"database":"PubMed","id":"31685013"},{"database":"DOI","id":"10.1186/s13148-019-0749-3"}],"title":"A genome-wide DNA methylation signature for SETD1B-related syndrome.","publicationDate":"2019","journal":"Clin. Epigenetics","firstPage":"156","lastPage":"156","volume":"11"},"referencePositions":["VARIANTS IDDSELD TRP-1885 AND CYS-1902"]},{"referenceNumber":20,"citation":{"id":"31440728","citationType":"journal article","authors":["Hiraide T.","Hattori A.","Ieda D.","Hori I.","Saitoh S.","Nakashima M.","Saitsu H."],"citationCrossReferences":[{"database":"PubMed","id":"31440728"},{"database":"DOI","id":"10.1002/epi4.12339"}],"title":"De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences.","publicationDate":"2019","journal":"Epilepsia Open","firstPage":"476","lastPage":"481","volume":"4"},"referencePositions":["VARIANT IDDSELD GLY-129"]},{"referenceNumber":21,"citation":{"id":"32546566","citationType":"journal article","authoringGroup":["CAUSES Study","EPGEN Study"],"authors":["Roston A.","Evans D.","Gill H.","McKinnon M.","Isidor B.","Cogne B.","Mwenifumbo J.","van Karnebeek C.","An J.","Jones S.J.M.","Farrer M.","Demos M.","Connolly M.","Gibson W.T."],"citationCrossReferences":[{"database":"PubMed","id":"32546566"},{"database":"DOI","id":"10.1136/jmedgenet-2019-106756"}],"title":"SETD1B-associated neurodevelopmental disorder.","publicationDate":"2021","journal":"J. Med. Genet.","firstPage":"196","lastPage":"204","volume":"58"},"referencePositions":["VARIANTS IDDSELD 978-GLN--ASN-1966 DEL; 1322-GLN--ASN-1966 DEL AND LEU-1945"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"JF813787","properties":[{"key":"ProteinId","value":"AEG67286.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AC079360","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC084018","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB028999","properties":[{"key":"ProteinId","value":"BAA83028.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS86338.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9UPS6-1"},{"database":"RefSeq","id":"NP_001340274.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001353345.2"}],"isoformId":"Q9UPS6-1"},{"database":"RefSeq","id":"NP_001432523.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001445594.1"}],"isoformId":"Q9UPS6-1"},{"database":"RefSeq","id":"XP_047284508.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047428552.1"}],"isoformId":"Q9UPS6-1"},{"database":"RefSeq","id":"XP_047284509.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047428553.1"}],"isoformId":"Q9UPS6-1"},{"database":"RefSeq","id":"XP_054227458.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054371483.1"}],"isoformId":"Q9UPS6-1"},{"database":"PDB","id":"3UVO","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.20 A"},{"key":"Chains","value":"B=1745-1755"}]},{"database":"PDB","id":"4ES0","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.82 A"},{"key":"Chains","value":"C=1741-1754"}]},{"database":"PDB","id":"8ILZ","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.77 A"},{"key":"Chains","value":"A=102-204"}]},{"database":"PDB","id":"8WXV","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.40 A"},{"key":"Chains","value":"B/D=1745-1754"}]},{"database":"PDBsum","id":"3UVO","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"4ES0","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"8ILZ","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"8WXV","properties":[{"key":"Description","value":"-"}]},{"database":"AlphaFoldDB","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"116702","properties":[{"key":"Interactions","value":"82"}]},{"database":"ComplexPortal","id":"CPX-7111","properties":[{"key":"EntryName","value":"Histone-lysine N-methyltransferase complex, SET1B variant"}]},{"database":"CORUM","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"DIP","id":"DIP-61947N","properties":[{"key":"Description","value":"-"}]},{"database":"ELM","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"FunCoup","id":"Q9UPS6","properties":[{"key":"Number of interactors","value":"1951"}]},{"database":"IntAct","id":"Q9UPS6","properties":[{"key":"Interactions","value":"34"}]},{"database":"MINT","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"NDEx","id":"IQUERY-CP-SETD1B","properties":[{"key":"Evidences","value":"1 NDEx IQuery Curated Pathway"}]},{"database":"STRING","id":"9606.ENSP00000474253","properties":[{"key":"Description","value":"-"}]},{"database":"BindingDB","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"ChEMBL","id":"CHEMBL4105837","properties":[{"key":"Description","value":"-"}]},{"database":"GlyCosmos","id":"Q9UPS6","properties":[{"key":"glycosylation","value":"1 site, 1 glycan"}]},{"database":"GlyGen","id":"Q9UPS6","properties":[{"key":"glycosylation","value":"13 sites, 1 O-linked glycan (5 sites)"}]},{"database":"iPTMnet","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"SETD1B","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"166977692","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000474253","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"85430","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9UPS6-1"},{"database":"Pumba","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"9774","properties":[{"key":"antibodies","value":"119 antibodies from 27 providers"}]},{"database":"Ensembl","id":"ENST00000542440.5","properties":[{"key":"ProteinId","value":"ENSP00000442924.1"},{"key":"GeneId","value":"ENSG00000139718.12"}],"isoformId":"Q9UPS6-2"},{"database":"Ensembl","id":"ENST00000604567.6","properties":[{"key":"ProteinId","value":"ENSP00000474253.1"},{"key":"GeneId","value":"ENSG00000139718.12"}],"isoformId":"Q9UPS6-1"},{"database":"Ensembl","id":"ENST00000619791.1","properties":[{"key":"ProteinId","value":"ENSP00000481531.1"},{"key":"GeneId","value":"ENSG00000139718.12"}],"isoformId":"Q9UPS6-1"},{"database":"GeneID","id":"23067","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:23067","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000604567.6","properties":[{"key":"ProteinId","value":"ENSP00000474253.1"},{"key":"RefSeqNucleotideId","value":"NM_001353345.2"},{"key":"RefSeqProteinId","value":"NP_001340274.1"}]},{"database":"UCSC","id":"uc021rfg.2","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"Q9UPS6-1"},{"database":"AGR","id":"HGNC:29187","properties":[{"key":"Description","value":"-"}]},{"database":"CIViC","id":"23067","properties":[{"key":"Number of evidences","value":"1 evidence item across 1 molecular profile"}]},{"database":"ClinPGx","id":"PA143485611","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"23067","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"23067","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"SETD1B","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"SETD1B","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:29187","properties":[{"key":"GeneName","value":"SETD1B"}]},{"database":"HPA","id":"ENSG00000139718","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"SETD1B","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"611055","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"619000","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000139718","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"717812","properties":[{"key":"Disease","value":"12q24.31 microdeletion syndrome"}]},{"database":"Orphanet","id":"178469","properties":[{"key":"Disease","value":"Autosomal dominant non-syndromic intellectual disability"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000139718","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG1080","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00940000154575","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_001226_0_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"LPCMHGD","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"308383at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q9UPS6","properties":[{"key":"Number of GO annotations","value":"1 GO annotation based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"BioCyc","id":"MetaCyc:HS13795-MONOMER","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-3214841","properties":[{"key":"PathwayName","value":"PKMTs methylate histone lysines"}]},{"database":"Reactome","id":"R-HSA-8936459","properties":[{"key":"PathwayName","value":"RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function"}]},{"database":"Reactome","id":"R-HSA-9772755","properties":[{"key":"PathwayName","value":"Formation of WDR5-containing histone-modifying complexes"}]},{"database":"SignaLink","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000139718","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"23067","properties":[{"key":"hits","value":"129 hits in 1180 CRISPR screens"}]},{"database":"CD-CODE","id":"804901D1","properties":[{"key":"EntryName","value":"Nuclear speckle"}]},{"database":"EvolutionaryTrace","id":"Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"23067","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q9UPS6","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:Q9UPS6","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 12"}]},{"database":"RNAct","id":"Q9UPS6","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000139718","properties":[{"key":"ExpressionPatterns","value":"Expressed in blood vessel layer and 205 other cell types or tissues"}]},{"database":"GO","id":"GO:0005694","properties":[{"key":"GoTerm","value":"C:chromosome"},{"key":"GoEvidenceType","value":"EXP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17355966"}]},{"database":"GO","id":"GO:0005737","properties":[{"key":"GoTerm","value":"C:cytoplasm"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"38003223"}]},{"database":"GO","id":"GO:0035097","properties":[{"key":"GoTerm","value":"C:histone methyltransferase complex"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17355966"}]},{"database":"GO","id":"GO:0016607","properties":[{"key":"GoTerm","value":"C:nuclear speck"},{"key":"GoEvidenceType","value":"EXP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17355966"}]},{"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":"38003223"}]},{"database":"GO","id":"GO:0048188","properties":[{"key":"GoTerm","value":"C:Set1C/COMPASS complex"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17998332"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"18838538"}]},{"database":"GO","id":"GO:0140938","properties":[{"key":"GoTerm","value":"F:histone H3 methyltransferase activity"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0140945","properties":[{"key":"GoTerm","value":"F:histone H3K4 monomethyltransferase activity"},{"key":"GoEvidenceType","value":"EXP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25561738"}]},{"database":"GO","id":"GO:0003723","properties":[{"key":"GoTerm","value":"F:RNA binding"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"CDD","id":"cd12549","properties":[{"key":"EntryName","value":"RRM_Set1B"},{"key":"MatchStatus","value":"1"}]},{"database":"CDD","id":"cd19169","properties":[{"key":"EntryName","value":"SET_SETD1"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"2.170.270.10:FF:000010","properties":[{"key":"EntryName","value":"Histone-lysine N-methyltransferase"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.30.70.330:FF:000178","properties":[{"key":"EntryName","value":"Histone-lysine N-methyltransferase"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.30.70.330","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"2.170.270.10","properties":[{"key":"EntryName","value":"SET domain"},{"key":"MatchStatus","value":"1"}]},{"database":"IDEAL","id":"IID00402","properties":[{"key":"Description","value":"-"}]},{"database":"InterPro","id":"IPR024657","properties":[{"key":"EntryName","value":"COMPASS_Set1_N-SET"}]},{"database":"InterPro","id":"IPR012677","properties":[{"key":"EntryName","value":"Nucleotide-bd_a/b_plait_sf"}]},{"database":"InterPro","id":"IPR003616","properties":[{"key":"EntryName","value":"Post-SET_dom"}]},{"database":"InterPro","id":"IPR035979","properties":[{"key":"EntryName","value":"RBD_domain_sf"}]},{"database":"InterPro","id":"IPR000504","properties":[{"key":"EntryName","value":"RRM_dom"}]},{"database":"InterPro","id":"IPR044570","properties":[{"key":"EntryName","value":"Set1-like"}]},{"database":"InterPro","id":"IPR034468","properties":[{"key":"EntryName","value":"Set1B_RRM"}]},{"database":"InterPro","id":"IPR001214","properties":[{"key":"EntryName","value":"SET_dom"}]},{"database":"InterPro","id":"IPR046341","properties":[{"key":"EntryName","value":"SET_dom_sf"}]},{"database":"InterPro","id":"IPR037841","properties":[{"key":"EntryName","value":"SET_SETD1A/B"}]},{"database":"PANTHER","id":"PTHR45814","properties":[{"key":"EntryName","value":"HISTONE-LYSINE N-METHYLTRANSFERASE SETD1"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR45814:SF1","properties":[{"key":"EntryName","value":"HISTONE-LYSINE N-METHYLTRANSFERASE SETD1B"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF11764","properties":[{"key":"EntryName","value":"N-SET"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00076","properties":[{"key":"EntryName","value":"RRM_1"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00856","properties":[{"key":"EntryName","value":"SET"},{"key":"MatchStatus","value":"1"}]},{"database":"SMART","id":"SM01291","properties":[{"key":"EntryName","value":"N-SET"},{"key":"MatchStatus","value":"1"}]},{"database":"SMART","id":"SM00508","properties":[{"key":"EntryName","value":"PostSET"},{"key":"MatchStatus","value":"1"}]},{"database":"SMART","id":"SM00360","properties":[{"key":"EntryName","value":"RRM"},{"key":"MatchStatus","value":"1"}]},{"database":"SMART","id":"SM00317","properties":[{"key":"EntryName","value":"SET"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF54928","properties":[{"key":"EntryName","value":"RNA-binding domain, RBD"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF82199","properties":[{"key":"EntryName","value":"SET domain"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS50868","properties":[{"key":"EntryName","value":"POST_SET"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS50102","properties":[{"key":"EntryName","value":"RRM"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS50280","properties":[{"key":"EntryName","value":"SET"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MENSHPPHHHHQQPPPQPGPSGERRNHHWRSYKLMIDPALKKGHHKLYRYDGQHFSLAMSSNRPVEIVEDPRVVGIWTKNKELELSVPKFKIDEFYVGPVPPKQVTFAKLNDNIRENFLRDMCKKYGEVEEVEILYNPKTKKHLGIAKVVFATVRGAKDAVQHLHSTSVMGNIIHVELDTKGETRMRFYELLVTGRYTPQTLPVGELDAVSPIVNETLQLSDALKRLKDGGLSAGCGSGSSSVTPNSGGTPFSQDTAYSSCRLDTPNSYGQGTPLTPRLGTPFSQDSSYSSRQPTPSYLFSQDPAVTFKARRHESKFTDAYNRRHEHHYVHNSPAVTAVAGATAAFRGSSDLPFGAVGGTGGSSGPPFKAQPQDSATFAHTPPPAQATPAPGFKSAFSPYQTPVAHFPPPPEEPTATAAFGARDSGEFRRAPAPPPLPPAEPLAKEKPGTPPGPPPPDTNSMELGGRPTFGWSPEPCDSPGTPTLESSPAGPEKPHDSLDSRIEMLLKEQRTKLLFLREPDSDTELQMEGSPISSSSSQLSPLAPFGTNSQPGFRGPTPPSSRPSSTGLEDISPTPLPDSDEDEELDLGLGPRPPPEPGPPDPAGLLSQTAEVALDLVGDRTPTSEKMDEGQQSSGEDMEISDDEMPSAPITSADCPKPMVVTPGAAAVAAPSVLAPTLPLPPPPGFPPLPPPPPPPPPQPGFPMPPPLPPPPPPPPPAHPAVTVPPPPLPAPPGVPPPPILPPLPPFPPGLFPVMQVDMSHVLGGQWGGMPMSFQMQTQVLSRLMTGQGACPYPPFMAAAAAAASAGLQFVNLPPYRGPFSLSNSGPGRGQHWPPLPKFDPSVPPPGYMPRQEDPHKATVDGVLLVVLKELKAIMKRDLNRKMVEVVAFRAFDEWWDKKERMAKASLTPVKSGEHKDEDRPKPKDRIASCLLESWGKGEGLGYEGLGLGIGLRGAIRLPSFKVKRKEPPDTTSSGDQKRLRPSTSVDEEDEESERERDRDMADTPCELAKRDPKGVGVRRRPARPLELDSGGEEDEKESLSASSSSSASSSSGSSTTSPSSSASDKEEEQESTEEEEEAEEEEEEEVPRSQLSSSSTSSTSDKDDDDDDSDDRDESENDDEDTALSEASEKDEGDSDEEETVSIVTSKAEATSSSESSESSEFESSSESSPSSSEDEEEVVAREEEEEEEEEEMVAEESMASAGPEDFEQDGEEAALAPGAPAVDSLGMEEEVDIETEAVAPEERPSMLDEPPLPVGVEEPADSREPPEEPGLSQEGAMLLSPEPPAKEVEARPPLSPERAPEHDLEVEPEPPMMLPLPLQPPLPPPRPPRPPSPPPEPETTDASHPSVPPEPLAEDHPPHTPGLCGSLAKSQSTETVPATPGGEPPLSGGSSGLSLSSPQVPGSPFSYPAPSPSLSSGGLPRTPGRDFSFTPTFSEPSGPLLLPVCPLPTGRRDERSGPLASPVLLETGLPLPLPLPLPLPLALPAVLRAQARAPTPLPPLLPAPLASCPPPMKRKPGRPRRSPPSMLSLDGPLVRPPAGAALGRELLLLPGQPQTPVFPSTHDPRTVTLDFRNAGIPAPPPPLPPQPPPPPPPPPVEPTKLPFKELDNQWPSEAIPPGPRGRDEVTEEYMELAKSRGPWRRPPKKRHEDLVPPAGSPELSPPQPLFRPRSEFEEMTILYDIWNGGIDEEDIRFLCVTYERLLQQDNGMDWLNDTLWVYHPSTSLSSAKKKKRDDGIREHVTGCARSEGFYTIDKKDKLRYLNSSRASTDEPPADTQGMSIPAQPHASTRAGSERRSEQRRLLSSFTGSCDSDLLKFNQLKFRKKKLKFCKSHIHDWGLFAMEPIAADEMVIEYVGQNIRQVIADMREKRYEDEGIGSSYMFRVDHDTIIDATKCGNFARFINHSCNPNCYAKVITVESQKKIVIYSKQHINVNEEITYDYKFPIEDVKIPCLCGSENCRGTLN","length":1966,"molWeight":212803,"crc64":"164F81BC84EAD2C2","md5":"36B20F85963131C1E71EC5CD2AF51994"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"CATALYTIC ACTIVITY":3,"SUBUNIT":1,"INTERACTION":1,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":2,"DISEASE":1,"SIMILARITY":1},"countByFeatureType":{"Chain":1,"Domain":3,"Region":10,"Coiled coil":1,"Motif":2,"Compositional bias":23,"Binding site":1,"Modified residue":8,"Alternative sequence":2,"Natural variant":6,"Mutagenesis":3,"Beta strand":4,"Helix":4,"Turn":2},"uniParcId":"UPI00021188EB"}}