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ARID1A 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. Defects in ARID1A are the cause of mental retardation autosomal dominant type 14 (MRD14). 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 adaptative 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. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Nuclear receptor co-regulator
Chromosomal Location of Human Ortholog: 1p36.11
Cellular Component: nuclear chromatin; nucleoplasm; nucleus; SWI/SNF complex
Molecular Function: DNA binding; ligand-dependent nuclear receptor binding; protein binding
Biological Process: androgen receptor signaling pathway; chromatin remodeling; chromatin-mediated maintenance of transcription; estrogen receptor signaling pathway; glucocorticoid receptor signaling pathway; nucleosome disassembly; nucleosome mobilization; positive regulation of transcription, DNA-dependent
Disease: Mental Retardation, Autosomal Dominant 14
Reference #:  O14497 (UniProtKB)
Alt. Names/Synonyms: ARI1A; ARID domain-containing protein 1A; ARID1A; AT rich interactive domain 1A (SWI- like); AT rich interactive domain 1A (SWI-like); AT-rich interactive domain-containing protein 1A; B120; BAF250; BAF250A; BM029; brain protein 120; BRG1-associated factor 250; BRG1-associated factor 250a; C1orf4; chromatin remodeling factor p250; hELD; hOSA1; Osa homolog 1; OSA1; OSA1 nuclear protein; P270; SMARCF1; SWI-like protein; SWI/SNF complex protein p270; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1; SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1
Gene Symbols: ARID1A
Molecular weight: 242,045 Da
Basal Isoelectric point: 6.24  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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