{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"O14497","secondaryAccessions":["D3DPL1","Q53FK9","Q5T0W1","Q5T0W2","Q5T0W3","Q8NFD6","Q96T89","Q9BY33","Q9HBJ5","Q9UPZ1"],"uniProtkbId":"ARI1A_HUMAN","entryAudit":{"firstPublicDate":"2000-12-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2005-08-30","entryVersion":233,"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":"AT-rich interactive domain-containing protein 1A"},"shortNames":[{"value":"ARID domain-containing protein 1A"}]},"alternativeNames":[{"fullName":{"value":"B120"}},{"fullName":{"value":"BRG1-associated factor 250"},"shortNames":[{"value":"BAF250"}]},{"fullName":{"value":"BRG1-associated factor 250a"},"shortNames":[{"value":"BAF250A"}]},{"fullName":{"value":"Osa homolog 1"},"shortNames":[{"value":"hOSA1"}]},{"fullName":{"value":"SWI-like protein"}},{"fullName":{"value":"SWI/SNF complex protein p270"}},{"fullName":{"value":"SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1"}},{"fullName":{"value":"hELD"}}]},"genes":[{"geneName":{"value":"ARID1A"},"synonyms":[{"value":"BAF250"},{"value":"BAF250A"},{"value":"C1orf4"},{"value":"OSA1"},{"value":"SMARCF1"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"A2BH40"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12672490"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"22952240"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"26601204"}],"value":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"A2BH40"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11734557"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11780067"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11988099"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12200431"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12665591"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15170388"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18765789"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8804307"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12672490"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"22952240"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"26601204"}],"value":"Component of SWI/SNF chromatin remodeling complexes, in some of which it can be mutually exclusive with ARID1B/BAF250B. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (PubMed:11780067, PubMed:11988099, PubMed:12200431, PubMed:15170388, PubMed:22952240, PubMed:26601204, PubMed:8804307). Component of the BAF (SWI/SNF-A) complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C (PubMed:11734557, PubMed:12200431, PubMed:18765789). In muscle cells, the BAF complex also contains DPF3. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity). Component of a SWI/SNF-like EBAFa complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCC1/BAF155, SMARCC2/BAF170, BAF250A and MLLT1/ENL (PubMed:12665591). Interacts through its C-terminus with SMARCA2/BRM/BAF190B and SMARCA4/BRG1/BAF190A (PubMed:12200431, PubMed:15170388). Interacts with SMARCC1/BAF155 (PubMed:15170388). Interacts with FOS, FOSB isoform 1 and 2, FOSL1 and FOSL2 (By similarity)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"O14497","intActId":"EBI-637887"},"interactantTwo":{"uniProtKBAccession":"P50553","geneName":"ASCL1","intActId":"EBI-957042"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O14497","intActId":"EBI-637887"},"interactantTwo":{"uniProtKBAccession":"Q14526","geneName":"HIC1","intActId":"EBI-2507362"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O14497","intActId":"EBI-637887"},"interactantTwo":{"uniProtKBAccession":"P51531","geneName":"SMARCA2","intActId":"EBI-679562"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O14497","intActId":"EBI-637887"},"interactantTwo":{"uniProtKBAccession":"P51532","geneName":"SMARCA4","intActId":"EBI-302489"},"numberOfExperiments":28,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O14497","intActId":"EBI-637887"},"interactantTwo":{"uniProtKBAccession":"Q92925","geneName":"SMARCD2","intActId":"EBI-358441"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O14497-1","intActId":"EBI-15956509"},"interactantTwo":{"uniProtKBAccession":"P11388","geneName":"TOP2A","intActId":"EBI-539628"},"numberOfExperiments":2,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00355"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11318604"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26614907"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["O14497-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["O14497-2"],"sequenceIds":["VSP_015225"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["O14497-3"],"sequenceIds":["VSP_037157"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11073988"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11318604"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12200431"}],"value":"Highly expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon, and PBL, and at a much lower level in heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas"}],"commentType":"TISSUE SPECIFICITY"},{"commentType":"DISEASE","disease":{"diseaseId":"Coffin-Siris syndrome 2","diseaseAccession":"DI-03453","acronym":"CSS2","description":"A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. 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