Reactome | UniProt:Q8NFD5 ARID1B

Schema > ReferenceGeneProduct > Entries

UniProt:Q8NFD5 ARID1B Show undefined attributes

chain	chain:1-2319 initiator methionine:1
checksum	0267747AF33071BF
comment	FUNCTION 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).SUBUNIT 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).INTERACTION Widely expressed with high levels in heart, skeletal muscle and kidney.POLYMORPHISM The poly-Gln region is polymorphic and the number of Gln varies in the population (from 17 to 23).DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Produced by alternative initiation at Met-84 of isoform 5.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus.
created	[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference	[DatabaseIdentifier:11474718] ENSEMBL:ENSG00000049618 [DatabaseIdentifier:11573607] ENSEMBL:ENSP00000490491 [DatabaseIdentifier:11573609] ENSEMBL:ENSP00000344546 [DatabaseIdentifier:11573608] ENSEMBL:ENSP00000055163 [DatabaseIdentifier:11696307] ENSEMBL:ENST00000350026 [DatabaseIdentifier:11696308] ENSEMBL:ENST00000636930 [DatabaseIdentifier:11696306] ENSEMBL:ENST00000346085 [DatabaseIdentifier:11789237] GeneCards:ARID1B [DatabaseIdentifier:11842264] HPA:ENSG00000049618-ARID1B [DatabaseIdentifier:12126857] OpenTargets:ENSG00000049618 [DatabaseIdentifier:12138083] Orphanet:ARID1B [DatabaseIdentifier:12189219] PDB:2EH9 [DatabaseIdentifier:12189220] PDB:2CXY [DatabaseIdentifier:12267504] PRO:Q8NFD5 [DatabaseIdentifier:12287103] Pharos - Targets:Q8NFD5 [DatabaseIdentifier:12373901] RefSeq:NP_001358585.1 [DatabaseIdentifier:12373899] RefSeq:NP_001361757.1 [DatabaseIdentifier:12373900] RefSeq:NP_001361749.1 [DatabaseIdentifier:12373898] RefSeq:NP_059989.3
databaseName	UniProt
dbId	219063
description	recommendedName: fullName evidence="20"AT-rich interactive domain-containing protein 1B shortName: ARID domain-containing protein 1B alternativeName: BRG1-associated factor 250b shortName: BAF250B alternativeName: BRG1-binding protein hELD/OSA1 alternativeName: Osa homolog 2 shortName: hOsa2 alternativeName: p250R
displayName	UniProt:Q8NFD5 ARID1B
geneName	ARID1B BAF250B DAN15 KIAA1235 OSA2
identifier	Q8NFD5
isSequenceChanged	false
keyword	3D-structure Acetylation Alternative initiation Alternative splicing Chromatin regulator DNA-binding Intellectual disability Methylation Neurogenesis Nucleus Phosphoprotein Proteomics identification Reference proteome Transcription Transcription regulation Triplet repeat expansion
modified	[InstanceEdit:9963647] Weiser, Joel, 2025-08-15
moleculeType	Protein
name	ARID1B
otherIdentifier	11728877_s_at 11728878_s_at 1566991_PM_at 1566991_at 17014031 225181_PM_at 225181_at 225184_PM_at 225184_at 238043_PM_at 238043_at 240008_PM_at 240008_at 2932927 2932929 2932930 2932931 2932954 2932955 2932956 2932957 2932971 2932972 2932978 2932979 2932980 2932990 2932991 2932992 2932993 2932994 2932995 2932996 2932997 2932998 2932999 2933000 2933001 2933002 2933003 2933004 2933015 2933029 2933030 2933031 2933032 2933038 2933045 2933046 2933053 2933054 2933058 2933064 2933065 2933066 2933077 2933083 2933084 2933085 2933086 2933087 2933088 2933089 2933090 2933100 2933101 2933102 2933103 2933106 2933107 2933108 2933111 2933112 2933113 2933114 2933115 2933116 2933117 2933118 2933119 2933120 2933121 2933123 2933125 2933126 2933127 2933128 2933129 2933130 2933131 2933132 2933137 2933150 2933152 2933154 2933156 2933158 4048033 4048034 4048035 4048036 4048037 4048038 4048039 4048040 4048041 4048042 4048043 4048044 4048045 4048054 4048055 4048056 4048057 4048060 4048061 4048062 4048065 4048066 4048067 4048068 4048069 4048070 4048071 4048072 4048073 4048075 4048077 4048078 4048079 4048080 4048081 4048082 4048083 4048085 45556_at 46680_at 55088_at 57492 58451_at 71375_at 8122971 82058_at 82987_at 83922_at 85853_at 88773_at A_23_P70701 A_24_P366735 A_24_P675731 A_33_P3291877 A_33_P3291882 A_33_P3333078 GE53843 GE600225 GE721585 GE853310 GO:0000785 GO:0003677 GO:0003713 GO:0005515 GO:0005634 GO:0005654 GO:0005829 GO:0005886 GO:0006325 GO:0006338 GO:0006355 GO:0006357 GO:0007399 GO:0016514 GO:0030071 GO:0031491 GO:0035060 GO:0045582 GO:0045597 GO:0045663 GO:0045815 GO:0045893 GO:0048856 GO:0070316 GO:0071564 GO:0071565 GO:0140092 GO:2000045 GO:2000781 GO:2000819 HMNXSV003034162 HMNXSV003034880 Hs.130266.0.A1_3p_at Hs.146907.0.A1_3p_at Hs.73287.0.A1_3p_at Hs.73287.0.A2_3p_at Hs2.404150.1.S1_3p_at ILMN_1660433 ILMN_1699967 ILMN_1719694 ILMN_1723094 ILMN_1901057 ILMN_2415357 PH_hs_0016505 PH_hs_0019134 PH_hs_0025463 TC06001123.hg TC06003148.hg
physicalEntity	[EntityWithAccessionedSequence:R-HSA-5225635] ARID1B [nucleoplasm] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000049618] ENSEMBL:ENSG00000049618 ARID1B [ReferenceDNASequence:12739505] UCSC:Q8NFD5 ARID1B [ReferenceDNASequence:11340015] BioGPS Gene:57492 ARID1B [ReferenceDNASequence:11399836] COSMIC - genes:ARID1B ARID1B [ReferenceDNASequence:11415828] CTD Gene:57492 ARID1B [ReferenceDNASequence:11436875] dbSNP Gene:57492 ARID1B [ReferenceDNASequence:11820894] HGNC:18040 ARID1B [ReferenceDNASequence:11880827] KEGG:hsa:57492 ARID1B [ReferenceDNASequence:11969804] Monarch:57492 ARID1B [ReferenceDNASequence:12053897] NCBI Gene:57492 ARID1B [ReferenceDNASequence:12111794] OMIM:614556 ARID1B
referenceTranscript	[ReferenceRNASequence:12555673] RefSeq:NM_017519.3 ARID1B [ReferenceRNASequence:12555670] RefSeq:NM_001371656.1 ARID1B [ReferenceRNASequence:12555671] RefSeq:NM_001374828.1 ARID1B [ReferenceRNASequence:12555672] RefSeq:NM_001374820.1 ARID1B
schemaClass	ReferenceGeneProduct
secondaryIdentifier	ARI1B_HUMAN Q5JRD1 Q5VYC4 Q8IZY8 Q8TEV0 Q8TF02 Q99491 Q9ULI5
sequenceLength	2319
species	[Species:48887] Homo sapiens
stId	uniprot:Q8NFD5
url	http://purl.uniprot.org/uniprot/Q8NFD5

Referrals

(referenceEntity)

[EntityWithAccessionedSequence:R-HSA-5225635] ARID1B [nucleoplasm]

(interactor)

Cite Us!