ARID1A Antibody – Polyclonal

This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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.

Protein type: Nuclear receptor co-regulator; DNA-binding

Chromosomal Location of Human Ortholog: 1p35.3

Cellular Component: nuclear chromatin; nucleoplasm; nucleus; SWI/SNF complex

Molecular Function: DNA binding; ligand-dependent nuclear receptor binding; nucleosome binding; protein binding; transcription coactivator activity

Biological Process: androgen receptor signaling pathway; ATP-dependent chromatin remodeling; cardiac muscle cell differentiation; chromatin remodeling; chromatin-mediated maintenance of transcription; estrogen receptor signaling pathway; forebrain development; glucocorticoid receptor signaling pathway; maintenance of chromatin silencing; negative regulation of transcription from RNA polymerase II promoter; neural tube closure; nucleosome disassembly; nucleosome mobilization; positive regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; transcription, DNA-dependent

Disease: Mental Retardation, Autosomal Dominant 14