Homo sapiens Protein: ARID1A | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-94697.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | ARID1A | ||||||||||||||||||||||
Protein Name | AT rich interactive domain 1A (SWI-like) | ||||||||||||||||||||||
Synonyms | B120; BAF250; BAF250a; BM029; C1orf4; ELD; hELD; hOSA1; MRD14; OSA1; P270; SMARCF1; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000363267 | ||||||||||||||||||||||
InnateDB Gene | IDBG-94691 (ARID1A) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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). {ECO:0000250}. | ||||||||||||||||||||||
Subcellular Localization | Nucleus {ECO:0000255PROSITE- ProRule:PRU00355, ECO:0000269PubMed:11318604}. | ||||||||||||||||||||||
Disease Associations | Mental 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. {ECO:0000269PubMed:22426308}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
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. {ECO:0000269PubMed:11073988, ECO:0000269PubMed:11318604, ECO:0000269PubMed:12200431}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 72 experimentally validated interaction(s) in this database.
They are also associated with 15 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001606
ARID/BRIGHT DNA-binding domain IPR016024 Armadillo-type fold IPR021906 Protein of unknown function DUF3518 |
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PFAM |
PF01388
PF12031 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00501
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | O14497 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-O14497 | ||||||||||||||||||||||
TrEMBL | Q96T01 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 8289 | ||||||||||||||||||||||
UniGene | Hs.607160 | ||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||
HUGO | HGNC:11110 | ||||||||||||||||||||||
OMIM | 603024 | ||||||||||||||||||||||
CCDS | |||||||||||||||||||||||
HPRD | 04319 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB001895 AB024075 AF219114 AF231056 AF265208 AF268913 AF521670 AK027442 AK027467 AK027655 AK223275 AL034380 AL512408 BC112895 CH471059 FJ821250 FJ821251 FJ821252 FJ821253 FJ821254 FJ821255 | ||||||||||||||||||||||
GenPept | AAF75765 AAG17549 AAG33967 AAI12896 AAK54505 AAN03446 ACO49592 ACO49593 ACO49594 ACO49595 ACO49596 ACO49597 BAA23269 BAA83073 BAB55114 BAB55132 BAB55270 BAD96995 CAI21621 CAI21622 CAI21623 CAI23482 CAI23483 CAI23484 EAX07795 EAX07796 | ||||||||||||||||||||||