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ARID1B Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). 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. Binds DNA non-specifically. Defects in ARID1B are the cause of mental retardation autosomal dominant type 12 (MRD12). A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRD12 patients present with moderate to severe psychomotor retardation, and most show evidence of muscular hypotonia. In many patients, expressive speech is more severely affected than receptive function. Additional common findings include short stature, abnormal head shape and low-set, posteriorly rotated, and abnormally shaped ears, downslanting palpebral fissures, a bulbous nasal tip, a thin upper lip, minor teeth anomalies, and brachydactyly or single palmar creases. Autistic features are uncommon. 4 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: 6q25.3
Cellular Component: cytosol; nucleoplasm; plasma membrane; SWI/SNF complex
Molecular Function: DNA binding; protein binding; transcription coactivator activity
Biological Process: chromatin-mediated maintenance of transcription; covalent chromatin modification; nerve-nerve synaptic transmission; transcription, DNA-dependent
Disease: Coffin-siris Syndrome 1; Mental Retardation, Autosomal Dominant 12
Reference #:  Q8NFD5 (UniProtKB)
Alt. Names/Synonyms: 6A3-5; ARI1B; ARID domain-containing protein 1B; ARID1B; AT rich interactive domain 1B (SWI1-like); AT-rich interactive domain-containing protein 1B; BAF250B; BRG1-associated factor 250b; BRG1-binding protein ELD/OSA1; BRG1-binding protein hELD/OSA1; BRIGHT; DAN15; Eld (eyelid)/Osa protein; ELD/OSA1; hOsa2; KIAA1235; Osa homolog 2; OSA2; p250R
Gene Symbols: ARID1B
Molecular weight: 236,123 Da
Basal Isoelectric point: 6.26  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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