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ASXL1, ASXL2 and ASXL3 function redundantly in the PR-DUB complex and are essential for chromatin recruitment and transcriptional activation of associated genes (By similarity)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36180891"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"30664650"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"36180891"}],"value":"Core component of the polycomb repressive deubiquitinase (PR-DUB) complex, at least composed of BAP1, one of ASXL1, ASXL2 or (probably) ASXL3, and one of MBD5 or MBD6 (Probable). Distinct combinations of ASXL and MBD proteins may preferentially bind specific histone modification marks (PubMed:36180891). The PR-DUB core associates with a number of accessory proteins, including FOXK1, FOXK2, KDM1B, HCFC1 and OGT; KDM1B specifically associates with ASXL2 PR-DUB complexes (Probable). Interacts (via PHD domain) with MBD5 and MBD6 (via MBD domain); the interaction is probably direct and mediates association of MBD proteins with the PR-DUB core (PubMed:36180891)"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q9C0F0-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q9C0F0-2"],"sequenceIds":["VSP_042433","VSP_042434"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15138607"}],"value":"Expressed in pancreatic islets, testis, neuroblastoma, head and neck tumor"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34170818"}],"value":"Expressed in trophoblast stem cells during placental development and down-regulated during trophoblast differentiation"}],"commentType":"DEVELOPMENTAL STAGE"},{"commentType":"DISEASE","disease":{"diseaseId":"Bainbridge-Ropers syndrome","diseaseAccession":"DI-03920","acronym":"BRPS","description":"A syndrome characterized by psychomotor retardation, feeding problems, severe postnatal growth retardation in some patients, arched eyebrows, anteverted nares, and ulnar deviation of the hands.","diseaseCrossReference":{"database":"MIM","id":"615485"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23383720"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay"}],"commentType":"MISCELLANEOUS","molecule":"Isoform 2"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the Asx family"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"BAB71186.1","note":"Truncated N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous translation","sequence":"BAD18599.1","note":"Wrong choice of CDS.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Miscellaneous discrepancy","sequence":"CAB61377.1","note":"Contaminating sequence. 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