Sequence in raw or FASTA format:
ARID1A AT rich interactive domain 1A (SWI-like) [Homo sapiens (human)]
|Entrez Gene ID||8289|
|Full Name||AT rich interactive domain 1A (SWI-like)|
|Synonyms||B120, BAF250, BAF250a, BM029, C1orf4, ELD, MRD14, OSA1, P270, SMARCF1, hELD, hOSA1|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||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].|
|Homo sapiens (human)||ARID1A||NP_006006.3|
|Pan troglodytes (chimpanzee)||ARID1A||XP_513235.4|
|Macaca mulatta (Rhesus monkey)||LOC719949||XP_002808326.1|
|Canis lupus familiaris (dog)||ARID1A||XP_005617799.1|
|Bos taurus (cattle)||ARID1A||NP_001192714.1|
|Mus musculus (house mouse)||Arid1a||NP_001074288.1|
|Rattus norvegicus (Norway rat)||Arid1a||NP_001100105.1|
|Gallus gallus (chicken)||ARID1A||XP_417693.4|
|Danio rerio (zebrafish)||arid1ab||XP_696565.6|
|Xenopus (Silurana) tropicalis (western clawed frog)||arid1a||XP_002934685.2|
|GO:0000122||negative regulation of transcription from RNA polymerase II promoter||IEA|
|GO:0001843||neural tube closure||IEA|
|GO:0003205||cardiac chamber development||IEA|
|GO:0003408||optic cup formation involved in camera-type eye development||IEA|
|GO:0006357||regulation of transcription from RNA polymerase II promoter||NAS|
|GO:0030520||intracellular estrogen receptor signaling pathway||IDA|
|GO:0030521||androgen receptor signaling pathway||IDA|
|GO:0042921||glucocorticoid receptor signaling pathway||IDA|
|GO:0043044||ATP-dependent chromatin remodeling||IEA|
|GO:0045893||positive regulation of transcription, DNA-templated||IDA|
|GO:0048096||chromatin-mediated maintenance of transcription||TAS|
|GO:0060674||placenta blood vessel development||IEA|
|GO:0003713||transcription coactivator activity||NAS|
|GO:0016922||ligand-dependent nuclear receptor binding||IPI|
What is the normal function of the ARID1A gene?
The ARID1A gene provides instructions for making a protein that forms one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is lower than when DNA is loosely packed.
Through their ability to regulate gene activity, SWI/SNF complexes are involved in many processes, including repairing damaged DNA; copying (replicating) DNA; and controlling the growth, division, and maturation (differentiation) of cells. The ARID1A protein and other SWI/SNF subunits are thought to act as tumor suppressors, which keep cells from growing and dividing too rapidly or in an uncontrolled way.
The ARID1A subunit is able to attach (bind) to DNA and is thought to help target SWI/SNF complexes to the chromatin location that needs to be remodeled.
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