{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q8NFD5","secondaryAccessions":["Q5JRD1","Q5VYC4","Q8IZY8","Q8TEV0","Q8TF02","Q99491","Q9ULI5"],"uniProtkbId":"ARI1B_HUMAN","entryAudit":{"firstPublicDate":"2005-08-30","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2022-05-25","entryVersion":206,"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:0000305"}],"value":"AT-rich interactive domain-containing protein 1B"},"shortNames":[{"value":"ARID domain-containing protein 1B"}]},"alternativeNames":[{"fullName":{"value":"BRG1-associated factor 250b"},"shortNames":[{"value":"BAF250B"}]},{"fullName":{"value":"BRG1-binding protein hELD/OSA1"}},{"fullName":{"value":"Osa homolog 2"},"shortNames":[{"value":"hOsa2"}]},{"fullName":{"value":"p250R"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:18040"}],"value":"ARID1B"},"synonyms":[{"value":"BAF250B"},{"value":"DAN15"},{"value":"KIAA1235"},{"value":"OSA2"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"E9Q4N7"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14982958"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15170388"},{"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. 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). Binds DNA non-specifically (PubMed:14982958, PubMed:15170388)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"E9Q4N7"},{"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: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 (PubMed:11988099, PubMed:12200431, PubMed:12672490, PubMed:15170388, PubMed:22952240, PubMed:26601204). 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:11734557, PubMed:22952240, PubMed:26601204). 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: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 EBAFb complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, SMARCC1/BAF155, SMARCC2/BAF170, ARID1B/BAF250B, MLLT1/ENL and actin (PubMed:12665591). Interacts through its C-terminus with SMARCA2/BRM/BAF190B and SMARCA4/BRG1/BAF190A (PubMed:11988099, PubMed:12200431, PubMed:15170388). Interacts with SMARCC1/BAF155 (PubMed:15170388)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q8NFD5","intActId":"EBI-679921"},"interactantTwo":{"uniProtKBAccession":"Q16555","geneName":"DPYSL2","intActId":"EBI-1104711"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8NFD5","intActId":"EBI-679921"},"interactantTwo":{"uniProtKBAccession":"P51531","geneName":"SMARCA2","intActId":"EBI-679562"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8NFD5","intActId":"EBI-679921"},"interactantTwo":{"uniProtKBAccession":"P51532","geneName":"SMARCA4","intActId":"EBI-302489"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8NFD5","intActId":"EBI-679921"},"interactantTwo":{"uniProtKBAccession":"Q8TAQ2","geneName":"SMARCC2","intActId":"EBI-357418"},"numberOfExperiments":7,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00355"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11988099"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing","Alternative initiation"],"isoforms":[{"name":{"value":"5"},"isoformIds":["Q8NFD5-5"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"1"},"isoformIds":["Q8NFD5-1"],"sequenceIds":["VSP_061510"],"isoformSequenceStatus":"Described"},{"name":{"value":"2"},"isoformIds":["Q8NFD5-2"],"sequenceIds":["VSP_061511"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["Q8NFD5-3"],"sequenceIds":["VSP_061512"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11988099"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12200431"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12665591"}],"value":"Widely expressed with high levels in heart, skeletal muscle and kidney"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"value":"The poly-Gln region is polymorphic and the number of Gln varies in the population (from 17 to 23)"}],"commentType":"POLYMORPHISM"},{"commentType":"DISEASE","disease":{"diseaseId":"Coffin-Siris syndrome 1","diseaseAccession":"DI-04692","acronym":"CSS1","description":"A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. 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Both autosomal dominant and autosomal recessive inheritance patterns have been reported.","diseaseCrossReference":{"database":"MIM","id":"135900"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22405089"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22426308"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22426309"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Produced by alternative initiation at Met-84 of isoform 5"}],"commentType":"MISCELLANEOUS","molecule":"Isoform 1"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"AAG36928.1","note":"Truncated N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"AAL76077.1","note":"Truncated 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