{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q0VG06","secondaryAccessions":["A6NNM1","Q8N3F7","Q9BV13","Q9H6K7","Q9H7E8"],"uniProtkbId":"FP100_HUMAN","entryAudit":{"firstPublicDate":"2007-05-29","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2010-11-30","entryVersion":150,"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":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"17396147"},{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:26171"}],"value":"Fanconi anemia core complex-associated protein 100"}},"alternativeNames":[{"fullName":{"value":"Fanconi anemia-associated protein of 100 kDa"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"17396147"},{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:26171"}],"value":"FAAP100"},"synonyms":[{"value":"C17orf70"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17396147"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"40232843"}],"value":"Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17396147"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"40232843"}],"value":"Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM, FAAP24 and FAAP100. Forms a subcomplex with FANCB and FANCL"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q0VG06","intActId":"EBI-2557990"},"interactantTwo":{"uniProtKBAccession":"Q53S33","geneName":"BOLA3","intActId":"EBI-12086950"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q0VG06","intActId":"EBI-2557990"},"interactantTwo":{"uniProtKBAccession":"P13569","geneName":"CFTR","intActId":"EBI-349854"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q0VG06","intActId":"EBI-2557990"},"interactantTwo":{"uniProtKBAccession":"O15360","geneName":"FANCA","intActId":"EBI-81570"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q0VG06","intActId":"EBI-2557990"},"interactantTwo":{"uniProtKBAccession":"Q8NB91","geneName":"FANCB","intActId":"EBI-2557983"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q0VG06","intActId":"EBI-2557990"},"interactantTwo":{"uniProtKBAccession":"Q8WTQ7","geneName":"GRK7","intActId":"EBI-6423032"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q0VG06-3","intActId":"EBI-10226932"},"interactantTwo":{"uniProtKBAccession":"Q9BTE6-2","geneName":"AARSD1","intActId":"EBI-9357295"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q0VG06-3","intActId":"EBI-10226932"},"interactantTwo":{"uniProtKBAccession":"P49639","geneName":"HOXA1","intActId":"EBI-740785"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q0VG06-3","intActId":"EBI-10226932"},"interactantTwo":{"uniProtKBAccession":"Q99750","geneName":"MDFI","intActId":"EBI-724076"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17396147"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"40232843"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"synonyms":[{"value":"b"}],"isoformIds":["Q0VG06-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q0VG06-2"],"sequenceIds":["VSP_025922","VSP_025923"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"synonyms":[{"value":"a"}],"isoformIds":["Q0VG06-3"],"sequenceIds":["VSP_038262"],"isoformSequenceStatus":"Described"}]},{"commentType":"DISEASE","disease":{"diseaseId":"Fanconi anemia, complementation group X","diseaseAccession":"DI-07058","acronym":"FANCX","description":"A form of Fanconi anemia, a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. FANCX is an autosomal recessive form characterized by multiple pregnancy losses and offspring presenting with severe developmental and hematologic abnormalities leading to death in utero or in early life.","diseaseCrossReference":{"database":"MIM","id":"621258"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"40232843"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"40244696"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"AAH21968.1","note":"Truncated N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"BAB15251.1","note":"Truncated N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"CAD39037.2","note":"Truncated N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":881,"modifier":"EXACT"}},"description":"Fanconi anemia core complex-associated protein 100","featureId":"PRO_0000289130"},{"type":"Region","location":{"start":{"value":94,"modifier":"EXACT"},"end":{"value":119,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Modified residue","location":{"start":{"value":667,"modifier":"EXACT"},"end":{"value":667,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"18669648"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"24275569"}]},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":628,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_025922","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":151,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_038262","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":629,"modifier":"EXACT"},"end":{"value":665,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_025923","alternativeSequence":{"originalSequence":"SDVLPEQEGVCLPLSRHTVDMLQCLRFPGLAPPHTRA","alternativeSequences":["MPASFPMLRCARSPCWTVCWSPWCRALPDGRCSCLSS"]}},{"type":"Natural variant","location":{"start":{"value":542,"modifier":"EXACT"},"end":{"value":542,"modifier":"EXACT"}},"description":"in FANCX; likely pathogenic; loss of function in the regulation of FANCD2 monoubiquitination; unable to form a complex with FANCB and FANCL when expressed in a heterologous system; dbSNP:rs1598596062","featureCrossReferences":[{"database":"dbSNP","id":"rs1598596062"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"40232843"}],"featureId":"VAR_090958","alternativeSequence":{"originalSequence":"T","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":660,"modifier":"EXACT"},"end":{"value":660,"modifier":"EXACT"}},"description":"in dbSNP:rs11552304","featureCrossReferences":[{"database":"dbSNP","id":"rs11552304"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14702039"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15489334"}],"featureId":"VAR_032582","alternativeSequence":{"originalSequence":"P","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":817,"modifier":"EXACT"},"end":{"value":817,"modifier":"EXACT"}},"description":"in dbSNP:rs14422","featureCrossReferences":[{"database":"dbSNP","id":"rs14422"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14702039"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15489334"}],"featureId":"VAR_032583","alternativeSequence":{"originalSequence":"T","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":864,"modifier":"EXACT"},"end":{"value":881,"modifier":"EXACT"}},"description":"in FANCX; likely pathogenic; loss of function in the regulation of FANCD2 monoubiquitination","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"40244696"}],"featureId":"VAR_090959","alternativeSequence":{}},{"type":"Sequence conflict","location":{"start":{"value":654,"modifier":"EXACT"},"end":{"value":654,"modifier":"EXACT"}},"description":"in Ref. 3; BC008883","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"R","alternativeSequences":["C"]}},{"type":"Beta strand","location":{"start":{"value":7,"modifier":"EXACT"},"end":{"value":14,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":23,"modifier":"EXACT"},"end":{"value":25,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":27,"modifier":"EXACT"},"end":{"value":38,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":40,"modifier":"EXACT"},"end":{"value":51,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":54,"modifier":"EXACT"},"end":{"value":59,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":64,"modifier":"EXACT"},"end":{"value":70,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Turn","location":{"start":{"value":71,"modifier":"EXACT"},"end":{"value":74,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":75,"modifier":"EXACT"},"end":{"value":83,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":86,"modifier":"EXACT"},"end":{"value":91,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":115,"modifier":"EXACT"},"end":{"value":117,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Helix","location":{"start":{"value":120,"modifier":"EXACT"},"end":{"value":122,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":130,"modifier":"EXACT"},"end":{"value":135,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":137,"modifier":"EXACT"},"end":{"value":144,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":147,"modifier":"EXACT"},"end":{"value":149,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":151,"modifier":"EXACT"},"end":{"value":156,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":159,"modifier":"EXACT"},"end":{"value":163,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":169,"modifier":"EXACT"},"end":{"value":172,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":196,"modifier":"EXACT"},"end":{"value":201,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":217,"modifier":"EXACT"},"end":{"value":220,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Helix","location":{"start":{"value":222,"modifier":"EXACT"},"end":{"value":236,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":240,"modifier":"EXACT"},"end":{"value":244,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":248,"modifier":"EXACT"},"end":{"value":255,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Helix","location":{"start":{"value":268,"modifier":"EXACT"},"end":{"value":271,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":272,"modifier":"EXACT"},"end":{"value":277,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":282,"modifier":"EXACT"},"end":{"value":288,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":311,"modifier":"EXACT"},"end":{"value":319,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":321,"modifier":"EXACT"},"end":{"value":326,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":330,"modifier":"EXACT"},"end":{"value":333,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":336,"modifier":"EXACT"},"end":{"value":340,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Turn","location":{"start":{"value":354,"modifier":"EXACT"},"end":{"value":356,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":357,"modifier":"EXACT"},"end":{"value":361,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":366,"modifier":"EXACT"},"end":{"value":370,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":398,"modifier":"EXACT"},"end":{"value":404,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":419,"modifier":"EXACT"},"end":{"value":433,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Helix","location":{"start":{"value":450,"modifier":"EXACT"},"end":{"value":497,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":505,"modifier":"EXACT"},"end":{"value":517,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":520,"modifier":"EXACT"},"end":{"value":531,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":541,"modifier":"EXACT"},"end":{"value":548,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":561,"modifier":"EXACT"},"end":{"value":569,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":577,"modifier":"EXACT"},"end":{"value":583,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":596,"modifier":"EXACT"},"end":{"value":604,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Helix","location":{"start":{"value":607,"modifier":"EXACT"},"end":{"value":609,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":638,"modifier":"EXACT"},"end":{"value":640,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":644,"modifier":"EXACT"},"end":{"value":647,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Helix","location":{"start":{"value":649,"modifier":"EXACT"},"end":{"value":651,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Turn","location":{"start":{"value":656,"modifier":"EXACT"},"end":{"value":658,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Helix","location":{"start":{"value":665,"modifier":"EXACT"},"end":{"value":667,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Helix","location":{"start":{"value":675,"modifier":"EXACT"},"end":{"value":684,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":704,"modifier":"EXACT"},"end":{"value":710,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Helix","location":{"start":{"value":712,"modifier":"EXACT"},"end":{"value":718,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":719,"modifier":"EXACT"},"end":{"value":723,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Helix","location":{"start":{"value":728,"modifier":"EXACT"},"end":{"value":736,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Helix","location":{"start":{"value":737,"modifier":"EXACT"},"end":{"value":739,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Helix","location":{"start":{"value":743,"modifier":"EXACT"},"end":{"value":748,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":752,"modifier":"EXACT"},"end":{"value":757,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":763,"modifier":"EXACT"},"end":{"value":770,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Turn","location":{"start":{"value":774,"modifier":"EXACT"},"end":{"value":776,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":777,"modifier":"EXACT"},"end":{"value":779,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":785,"modifier":"EXACT"},"end":{"value":792,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Helix","location":{"start":{"value":794,"modifier":"EXACT"},"end":{"value":814,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Turn","location":{"start":{"value":815,"modifier":"EXACT"},"end":{"value":819,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Helix","location":{"start":{"value":828,"modifier":"EXACT"},"end":{"value":853,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":858,"modifier":"EXACT"},"end":{"value":861,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Helix","location":{"start":{"value":862,"modifier":"EXACT"},"end":{"value":873,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]},{"type":"Beta strand","location":{"start":{"value":874,"modifier":"EXACT"},"end":{"value":880,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KZP"}]}],"keywords":[{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0227","category":"Biological process","name":"DNA damage"},{"id":"KW-0234","category":"Biological process","name":"DNA repair"},{"id":"KW-0238","category":"Molecular function","name":"DNA-binding"},{"id":"KW-0923","category":"Disease","name":"Fanconi anemia"},{"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"}],"references":[{"referenceNumber":1,"citation":{"id":"14702039","citationType":"journal article","authors":["Ota T.","Suzuki Y.","Nishikawa T.","Otsuki T.","Sugiyama T.","Irie R.","Wakamatsu A.","Hayashi K.","Sato H.","Nagai K.","Kimura K.","Makita H.","Sekine M.","Obayashi M.","Nishi T.","Shibahara T.","Tanaka T.","Ishii S.","Yamamoto J.","Saito K.","Kawai Y.","Isono Y.","Nakamura Y.","Nagahari K.","Murakami K.","Yasuda T.","Iwayanagi T.","Wagatsuma M.","Shiratori A.","Sudo H.","Hosoiri T.","Kaku Y.","Kodaira H.","Kondo H.","Sugawara M.","Takahashi M.","Kanda K.","Yokoi T.","Furuya T.","Kikkawa E.","Omura Y.","Abe K.","Kamihara K.","Katsuta N.","Sato K.","Tanikawa M.","Yamazaki M.","Ninomiya K.","Ishibashi T.","Yamashita H.","Murakawa K.","Fujimori K.","Tanai H.","Kimata M.","Watanabe M.","Hiraoka S.","Chiba Y.","Ishida S.","Ono Y.","Takiguchi S.","Watanabe S.","Yosida M.","Hotuta T.","Kusano J.","Kanehori K.","Takahashi-Fujii A.","Hara H.","Tanase T.-O.","Nomura Y.","Togiya S.","Komai F.","Hara R.","Takeuchi K.","Arita M.","Imose N.","Musashino K.","Yuuki H.","Oshima A.","Sasaki N.","Aotsuka S.","Yoshikawa Y.","Matsunawa H.","Ichihara T.","Shiohata N.","Sano S.","Moriya S.","Momiyama H.","Satoh N.","Takami S.","Terashima Y.","Suzuki O.","Nakagawa S.","Senoh A.","Mizoguchi H.","Goto Y.","Shimizu F.","Wakebe H.","Hishigaki H.","Watanabe T.","Sugiyama A.","Takemoto M.","Kawakami B.","Yamazaki M.","Watanabe K.","Kumagai A.","Itakura S.","Fukuzumi Y.","Fujimori Y.","Komiyama M.","Tashiro H.","Tanigami A.","Fujiwara T.","Ono T.","Yamada K.","Fujii Y.","Ozaki K.","Hirao M.","Ohmori Y.","Kawabata A.","Hikiji T.","Kobatake N.","Inagaki H.","Ikema Y.","Okamoto S.","Okitani R.","Kawakami T.","Noguchi S.","Itoh T.","Shigeta K.","Senba T.","Matsumura K.","Nakajima Y.","Mizuno T.","Morinaga M.","Sasaki M.","Togashi T.","Oyama M.","Hata H.","Watanabe M.","Komatsu T.","Mizushima-Sugano J.","Satoh T.","Shirai Y.","Takahashi Y.","Nakagawa K.","Okumura K.","Nagase T.","Nomura N.","Kikuchi H.","Masuho Y.","Yamashita R.","Nakai K.","Yada T.","Nakamura Y.","Ohara O.","Isogai T.","Sugano S."],"citationCrossReferences":[{"database":"PubMed","id":"14702039"},{"database":"DOI","id":"10.1038/ng1285"}],"title":"Complete sequencing and characterization of 21,243 full-length human cDNAs.","publicationDate":"2004","journal":"Nat. Genet.","firstPage":"40","lastPage":"45","volume":"36"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)","NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 557-881 (ISOFORMS 1/3)","VARIANTS LEU-660 AND ALA-817"]},{"referenceNumber":2,"citation":{"id":"16625196","citationType":"journal article","authors":["Zody M.C.","Garber M.","Adams D.J.","Sharpe T.","Harrow J.","Lupski J.R.","Nicholson C.","Searle S.M.","Wilming L.","Young S.K.","Abouelleil A.","Allen N.R.","Bi W.","Bloom T.","Borowsky M.L.","Bugalter B.E.","Butler J.","Chang J.L.","Chen C.-K.","Cook A.","Corum B.","Cuomo C.A.","de Jong P.J.","DeCaprio D.","Dewar K.","FitzGerald M.","Gilbert J.","Gibson R.","Gnerre S.","Goldstein S.","Grafham D.V.","Grocock R.","Hafez N.","Hagopian D.S.","Hart E.","Norman C.H.","Humphray S.","Jaffe D.B.","Jones M.","Kamal M.","Khodiyar V.K.","LaButti K.","Laird G.","Lehoczky J.","Liu X.","Lokyitsang T.","Loveland J.","Lui A.","Macdonald P.","Major J.E.","Matthews L.","Mauceli E.","McCarroll S.A.","Mihalev A.H.","Mudge J.","Nguyen C.","Nicol R.","O'Leary S.B.","Osoegawa K.","Schwartz D.C.","Shaw-Smith C.","Stankiewicz P.","Steward C.","Swarbreck D.","Venkataraman V.","Whittaker C.A.","Yang X.","Zimmer A.R.","Bradley A.","Hubbard T.","Birren B.W.","Rogers J.","Lander E.S.","Nusbaum C."],"citationCrossReferences":[{"database":"PubMed","id":"16625196"},{"database":"DOI","id":"10.1038/nature04689"}],"title":"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.","publicationDate":"2006","journal":"Nature","firstPage":"1045","lastPage":"1049","volume":"440"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":3,"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] (ISOFORMS 1 AND 3)","VARIANTS LEU-660 AND ALA-817"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":4,"citation":{"id":"CI-2E9P6QQO8CFD4","citationType":"submission","authors":["Ebert L.","Schick M.","Neubert P.","Schatten R.","Henze S.","Korn B."],"title":"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201).","publicationDate":"JUN-2005","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-150 (ISOFORM 1)"],"referenceComments":[{"value":"T-cell","type":"TISSUE"}]},{"referenceNumber":5,"citation":{"id":"17974005","citationType":"journal article","authors":["Bechtel S.","Rosenfelder H.","Duda A.","Schmidt C.P.","Ernst U.","Wellenreuther R.","Mehrle A.","Schuster C.","Bahr A.","Bloecker H.","Heubner D.","Hoerlein A.","Michel G.","Wedler H.","Koehrer K.","Ottenwaelder B.","Poustka A.","Wiemann S.","Schupp I."],"citationCrossReferences":[{"database":"PubMed","id":"17974005"},{"database":"DOI","id":"10.1186/1471-2164-8-399"}],"title":"The full-ORF clone resource of the German cDNA consortium.","publicationDate":"2007","journal":"BMC Genomics","firstPage":"399","lastPage":"399","volume":"8"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 482-881 (ISOFORMS 1/3)"],"referenceComments":[{"value":"Melanoma","type":"TISSUE"}]},{"referenceNumber":6,"citation":{"id":"17396147","citationType":"journal article","authors":["Ling C.","Ishiai M.","Ali A.M.","Medhurst A.L.","Neveling K.","Kalb R.","Yan Z.","Xue Y.","Oostra A.B.","Auerbach A.D.","Hoatlin M.E.","Schindler D.","Joenje H.","de Winter J.P.","Takata M.","Meetei A.R.","Wang W."],"citationCrossReferences":[{"database":"PubMed","id":"17396147"},{"database":"DOI","id":"10.1038/sj.emboj.7601666"}],"title":"FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway.","publicationDate":"2007","journal":"EMBO J.","firstPage":"2104","lastPage":"2114","volume":"26"},"referencePositions":["FUNCTION","SUBCELLULAR LOCATION","IDENTIFICATION IN THE FA CORE 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":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-667","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":8,"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-667","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Erythroleukemia","type":"TISSUE"}]},{"referenceNumber":9,"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-667","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":10,"citation":{"id":"40244696","citationType":"journal article","authors":["Harrison B.A.","Mizrahi-Powell E.","Pappas J.","Thomas K.","Vasishta S.","Hebbar S.","Shukla A.","Nayak S.S.","Truong T.K.","Woroch A.","Kharbutli Y.","Gelb B.D.","Mintz C.S.","Evrony G.D.","Smogorzewska A."],"citationCrossReferences":[{"database":"PubMed","id":"40244696"},{"database":"DOI","id":"10.1172/jci185126"}],"title":"Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.","publicationDate":"2025","journal":"J. Clin. Invest.","firstPage":"0","lastPage":"0","volume":"135"},"referencePositions":["INVOLVEMENT IN FANCX","VARIANT FANCX 864-GLN--LEU-881 DEL","CHARACTERIZATION OF VARIANT FANCX 864-GLN--LEU-881 DEL"]},{"referenceNumber":11,"citation":{"id":"40232843","citationType":"journal article","authors":["Kuehl J.","Xue Y.","Yuan F.","Ramanagoudr-Bhojappa R.","Pickel S.","Kalb R.","Chandrasekharappa S.C.","Wang W.","Zhang Y.","Schindler D."],"citationCrossReferences":[{"database":"PubMed","id":"40232843"},{"database":"DOI","id":"10.1172/jci187323"}],"title":"Genetic inactivation of FAAP100 causes Fanconi anemia due to disruption of the monoubiquitin ligase core complex.","publicationDate":"2025","journal":"J. Clin. Invest.","firstPage":"0","lastPage":"0","volume":"135"},"referencePositions":["VARIANT FANCX PRO-542","CHARACTERIZATION OF VARIANT FANCX PRO-542","FUNCTION","SUBCELLULAR LOCATION","IDENTIFICATION IN THE FA CORE COMPLEX"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AK024644","properties":[{"key":"ProteinId","value":"BAB14944.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK025828","properties":[{"key":"ProteinId","value":"BAB15251.1"},{"key":"Status","value":"ALT_INIT"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AC137896","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CR978826","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC001724","properties":[{"key":"ProteinId","value":"AAH01724.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC008883","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC021968","properties":[{"key":"ProteinId","value":"AAH21968.1"},{"key":"Status","value":"ALT_INIT"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC117139","properties":[{"key":"ProteinId","value":"AAI17140.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC117141","properties":[{"key":"ProteinId","value":"AAI17142.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AL834374","properties":[{"key":"ProteinId","value":"CAD39037.2"},{"key":"Status","value":"ALT_INIT"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS32765.2","properties":[{"key":"Description","value":"-"}],"isoformId":"Q0VG06-1"},{"database":"RefSeq","id":"NP_079437.5","properties":[{"key":"NucleotideSequenceId","value":"NM_025161.6"}],"isoformId":"Q0VG06-1"},{"database":"RefSeq","id":"XP_047292804.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047436848.1"}],"isoformId":"Q0VG06-3"},{"database":"PDB","id":"7KZP","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.10 A"},{"key":"Chains","value":"P/Q=1-881"}]},{"database":"PDB","id":"7KZQ","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.20 A"},{"key":"Chains","value":"P/Q=1-881"}]},{"database":"PDB","id":"7KZR","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.20 A"},{"key":"Chains","value":"P/Q=1-881"}]},{"database":"PDB","id":"7KZS","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.20 A"},{"key":"Chains","value":"P/Q=1-881"}]},{"database":"PDB","id":"7KZT","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.20 A"},{"key":"Chains","value":"P/Q=1-881"}]},{"database":"PDB","id":"7KZV","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.20 A"},{"key":"Chains","value":"P/Q=1-881"}]},{"database":"PDBsum","id":"7KZP","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"7KZQ","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"7KZR","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"7KZS","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"7KZT","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"7KZV","properties":[{"key":"Description","value":"-"}]},{"database":"AlphaFoldDB","id":"Q0VG06","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-23085","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-23086","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-23087","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-23088","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-23089","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-23090","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"Q0VG06","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"123196","properties":[{"key":"Interactions","value":"121"}]},{"database":"ComplexPortal","id":"CPX-6263","properties":[{"key":"EntryName","value":"Fanconi anemia ubiquitin ligase complex"}]},{"database":"CORUM","id":"Q0VG06","properties":[{"key":"Description","value":"-"}]},{"database":"FunCoup","id":"Q0VG06","properties":[{"key":"Number of interactors","value":"1911"}]},{"database":"IntAct","id":"Q0VG06","properties":[{"key":"Interactions","value":"83"}]},{"database":"MINT","id":"Q0VG06","properties":[{"key":"Description","value":"-"}]},{"database":"NDEx","id":"IQUERY-CP-FAAP100","properties":[{"key":"Evidences","value":"3 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000333283","properties":[{"key":"Description","value":"-"}]},{"database":"GlyGen","id":"Q0VG06","properties":[{"key":"glycosylation","value":"1 site, 1 O-linked glycan (1 site)"}]},{"database":"iPTMnet","id":"Q0VG06","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q0VG06","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"FAAP100","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"313104237","properties":[{"key":"Description","value":"-"}]},{"database":"CPTAC","id":"CPTAC-3224","properties":[{"key":"Description","value":"-"}]},{"database":"CPTAC","id":"CPTAC-3225","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"Q0VG06","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q0VG06","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000333283","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q0VG06","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"58837","properties":[{"key":"Description","value":"-"}],"isoformId":"Q0VG06-1"},{"database":"ProteomicsDB","id":"58838","properties":[{"key":"Description","value":"-"}],"isoformId":"Q0VG06-2"},{"database":"ProteomicsDB","id":"58839","properties":[{"key":"Description","value":"-"}],"isoformId":"Q0VG06-3"},{"database":"Pumba","id":"Q0VG06","properties":[{"key":"Description","value":"-"}]},{"database":"TopDownProteomics","id":"Q0VG06-1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q0VG06-1"},{"database":"Antibodypedia","id":"19824","properties":[{"key":"antibodies","value":"70 antibodies from 18 providers"}]},{"database":"CPTC","id":"Q0VG06","properties":[{"key":"antibodies","value":"2 antibodies"}]},{"database":"DNASU","id":"80233","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000327787.13","properties":[{"key":"ProteinId","value":"ENSP00000333283.8"},{"key":"GeneId","value":"ENSG00000185504.18"}],"isoformId":"Q0VG06-1"},{"database":"GeneID","id":"80233","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:80233","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000327787.13","properties":[{"key":"ProteinId","value":"ENSP00000333283.8"},{"key":"RefSeqNucleotideId","value":"NM_025161.6"},{"key":"RefSeqProteinId","value":"NP_079437.5"}]},{"database":"UCSC","id":"uc002kaq.4","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"Q0VG06-1"},{"database":"AGR","id":"HGNC:26171","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA142672253","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"80233","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"80233","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"FAAP100","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"FAAP100","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:26171","properties":[{"key":"GeneName","value":"FAAP100"}]},{"database":"HPA","id":"ENSG00000185504","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"FAAP100","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"611301","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"621258","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000185504","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"84","properties":[{"key":"Disease","value":"Fanconi anemia"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000185504","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"ENOG502QTI0","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00390000016682","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_018470_0_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q0VG06","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"RVHHAVI","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"6495021at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q0VG06","properties":[{"key":"Number of GO annotations","value":"1 GO annotation based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q0VG06","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"Q0VG06","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-6783310","properties":[{"key":"PathwayName","value":"Fanconi Anemia Pathway"}]},{"database":"Reactome","id":"R-HSA-9833482","properties":[{"key":"PathwayName","value":"PKR-mediated signaling"}]},{"database":"SignaLink","id":"Q0VG06","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"Q0VG06","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000185504","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"80233","properties":[{"key":"hits","value":"102 hits in 1143 CRISPR screens"}]},{"database":"ChiTaRS","id":"FAAP100","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GenomeRNAi","id":"80233","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q0VG06","properties":[{"key":"DevelopmentLevel","value":"Tdark"}]},{"database":"PRO","id":"PR:Q0VG06","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 17"}]},{"database":"RNAct","id":"Q0VG06","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000185504","properties":[{"key":"ExpressionPatterns","value":"Expressed in right hemisphere of cerebellum and 125 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"Q0VG06","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0000785","properties":[{"key":"GoTerm","value":"C:chromatin"},{"key":"GoEvidenceType","value":"IDA:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"22343915"}]},{"database":"GO","id":"GO:0005829","properties":[{"key":"GoTerm","value":"C:cytosol"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0043240","properties":[{"key":"GoTerm","value":"C:Fanconi anaemia nuclear complex"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"40232843"}]},{"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":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"40232843"}]},{"database":"GO","id":"GO:0036297","properties":[{"key":"GoTerm","value":"P:interstrand cross-link repair"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"19965384"}]},{"database":"InterPro","id":"IPR029251","properties":[{"key":"EntryName","value":"Faap100"}]},{"database":"PANTHER","id":"PTHR14890","properties":[{"key":"EntryName","value":"FANCONI ANEMIA CORE COMPLEX-ASSOCIATED PROTEIN 100"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR14890:SF1","properties":[{"key":"EntryName","value":"FANCONI ANEMIA CORE COMPLEX-ASSOCIATED PROTEIN 100"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF15146","properties":[{"key":"EntryName","value":"FANCAA"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MAGAAPRVRYLAGFCCPLGGLAAGKPRVLCHEAEVFLSTGSELVYVYDQEGGLLTAAFRFPDQVWHLELLAPRRLLYALCARRGLYCLSLDHPGRSRSTSQDDRDSEDGDQPSPVIPVDPDACILPDAALCAFTLLDSVLVTLVQGPARWKMQLFEQPCPGEDPRPGGQIGEVELSSYTPPAGVPGKPAAPHFLPVLCSVSPSGSRVPHDLLGGSGGFTLEDALFGLLFGADATLLQSPVVLCGLPDGQLCCVILKALVTSRSAPGDPNALVKILHHLEEPVIFIGALKTEPQAAEAAENFLPDEDVHCDCLVAFGHHGRMLAIKASWDESGKLVPELREYCLPGPVLCAACGGGGRVYHSTPSDLCVVDLSRGSTPLGPEQPEEGPGGLPPMLCPASLNICSVVSLSASPRTHEGGTKLLALSAKGRLMTCSLDLDSEMPGPARMTTESAGQKIKELLSGIGNISERVSFLKKAVDQRNKALTSLNEAMNVSCALLSSGTGPRPISCTTSTTWSRLQTQDVLMATCVLENSSSFSLDQGWTLCIQVLTSSCALDLDSACSAITYTIPVDQLGPGARREVTLPLGPGENGGLDLPVTVSCTLFYSLREVVGGALAPSDSEDPFLDECPSDVLPEQEGVCLPLSRHTVDMLQCLRFPGLAPPHTRAPSPLGPTRDPVATFLETCREPGSQPAGPASLRAEYLPPSVASIKVSAELLRAALKDGHSGVPLCCATLQWLLAENAAVDVVRARALSSIQGVAPDGANVHLIVREVAMTDLCPAGPIQAVEIQVESSSLADICRAHHAVVGRMQTMVTEQATQGSSAPDLRVQYLRQIHANHETLLREVQTLRDRLCTEDEASSCATAQRLLQVYRQLRHPSLILL","length":881,"molWeight":93433,"crc64":"C586768FB1C7ABD2","md5":"0067032E158218D341242A339353219B"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"SUBUNIT":1,"INTERACTION":8,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":3,"DISEASE":1,"SEQUENCE CAUTION":3},"countByFeatureType":{"Chain":1,"Region":1,"Modified residue":1,"Alternative sequence":3,"Natural variant":4,"Sequence conflict":1,"Beta strand":45,"Turn":5,"Helix":15},"uniParcId":"UPI0001C53D21"}}