Gene content    
ARID1A ( by HUGO)
AT Rich Interactive Domain 1A (SWI-Like)
Tumor suppressor gene
AT Rich Interactive Domain 1A (SWI-Like)
C1orf4
SMARCF1
B120
Osa Homolog 1
BAF250
OSA1
ARID Domain-Containing Protein 1A
BRG1-Associated Factor 250a
hELD
hOSA1
SWI-Like Protein
SWI/SNF Complex Protein P270
SWI/SNF-Related
Matrix-Associated
Actin-Dependent Regulator Of Chromatin Subfamily F Member 1
MRD14
AT Rich Interactive Domain 1A (SWI- Like)
SWI/SNF Related
Matrix Associated
Actin Dependent Regulator Of Chromatin
Subfamily F
Member 1
BAF250a
BM029
ELD
P270
AT-Rich Interactive Domain-Containing Protein 1A
Brain Protein 120
Chromatin Remodeling Factor P250
OSA1 Nuclear Protein
BAF250A
BRG1-Associated Factor 250
NCBI: 1p35.3    Ensembl: 1p36.11
ARI1A_HUMANSize: 2285 amino acidsMass: 242045 Da

  • Subunit: Component of SWI/SNF chromatin remodeling complexes, in some of which it can be mutually exclusive with ARID1B/BAF250B. Component of the BAF (SWI/SNF-A) complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Component of the SWI/SNF-B (PBAF) complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PB1/BAF180, ARID2/BAF200, ARID1A/BAF250A or ARID1B/BAF250B and actin. Component of the SWI/SNF Brm complex, at least composed of SMARCA2/BRM/BAF190B, SMARCB1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, BAF60 (one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C), SMARCC1/BAF155, SMARCC2/BAF170, ARID1A/BAF250A, SIN3A, HDAC1, HDAC2, and RBAP4. Component of the SWI/SNF complex Brg1(I), at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, BAF60 (one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C), SMARCC1/BAF155, SMARCC2/BAF170, ARID1A/BAF250A, SIN3A, and probably HDAC2 and RBAP4. Component of the SWI/SNF Brg1(II), at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, ARID1A/BAF250A and probably HDAC2 and RBAP4. Component of a SWI/SNF-like EPAFa complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, ACTL6A/BAF53A, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCC1/BAF155, SMARCC2/BAF170, BAF250A and MLLT1/ENL. Component of a SWI/SNF-like complex containing ARID1A/BAF250A and ARID1B/BAF250B. Interacts through its C-terminus with SMARCA2/BRM/BAF190B and SMARCA4/BRG1/BAF190A. Component of the WINAC complex, at least composed of SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B. Interacts with SMARCC1/BAF155. 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) Sequence caution: Sequence=AAF75765.1; Type=Frameshift; Positions=374; Sequence=AAG33967.1; Type=Frameshift; Positions=872, 885; Sequence=BAA23269.1; Type=Frameshift; Positions=Several; Sequence=BAA83073.1; Type=Erroneous gene model prediction; Sequence=BAA83073.1; Type=Frameshift; Positions=Several; 1 PDB 3D structure from [IMAGE] and Proteopedia [IMAGE] for ARID1A: 1RYU (3D) [IMAGE]
  • Tissue specificity: 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 [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Arrays
  • Function:
    UniProtKB/Swiss-Prot Summary: ARI1A_HUMAN, O14497 Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Binds DNA non-specifically. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene. 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 post-mitotic 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 post-mitotic 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) Gene Ontology (GO): Selected molecular function terms (see all 6): About this table GO ID Qualified GO term Evidence PubMed IDs GO:0003677 DNA binding NAS 10757798 GO:0003713 transcription coactivator activity NAS 8804307 GO:0005488 binding -- -- GO:0005515 protein binding IPI 11780067 GO:0016922 ligand-dependent nuclear receptor binding IPI 17363140 [IMAGE] Find genes that share ontologies with ARID1A About GenesLikeMe Phenotypes:
  • Similarity:
    Contains 1 ARID domain [IMAGE]
  • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR001606ARID/BRIGHT_DNA-bdAT-rich interaction regionDomain
    BlocksIPB001606ARID (AT-rich interaction domain) proteinARID (AT-rich interaction domain) protein

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process androgen receptor signaling pathway IDA GOA 12200431
    chromatin remodeling IDA GOA 11726552
    chromatin-mediated maintenance of transcription TAS GOA 12200431
    glucocorticoid receptor signaling pathway IDA GOA 12200431
    intracellular estrogen receptor signaling pathway IDA GOA 12200431
    nucleosome disassembly IDA GOA 8895581
    nucleosome mobilization TAS GOA 12200431
    positive regulation of transcription, DNA-templated IDA GOA 12200431
    regulation of transcription from RNA polymerase II promoter NAS GOA 8804307
    Cellular Component nuclear chromatin IDA GOA 17363140
    nucleus TAS GOA 12200431
    SWI/SNF complex IDA GOA 11078522
    Molecular Function DNA binding NAS GOA 10757798
    ligand-dependent nuclear receptor binding IPI GOA 17363140
    protein binding IPI GOA 11780067
    transcription coactivator activity NAS GOA 8804307

    Disorder & Mutation    
    Source Disease
    SWISS-PROTMental retardation, autosomal dominant 14 (MRD14) [MIM:614607]: A disease characterized by multiple congenital anomalies and mental retardation. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD14 patients manifest developmental delay, abnormal corpus callosum, absent/hypoplastic fifth finger/toenails, sparse scalp hair, long eyelashes, and a coarse facial appearance with wide mouth, thick lips, and abnormal ears. Note=The disease is caused by mutations affecting the gene represented in this entry

    ARID1A cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene