Homo sapiens Protein: ARID1B | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-98326.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | ARID1B | ||||||||||||||||||||||
Protein Name | AT rich interactive domain 1B (SWI1-like) | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000055163 | ||||||||||||||||||||||
InnateDB Gene | IDBG-98322 (ARID1B) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | 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 (By similarity). Binds DNA non-specifically. {ECO:0000250}. | ||||||||||||||||||||||
Subcellular Localization | Nucleus {ECO:0000255PROSITE- ProRule:PRU00355, ECO:0000269PubMed:11988099}. | ||||||||||||||||||||||
Disease Associations | Mental retardation, autosomal dominant 12 (MRD12) [MIM:614562]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive 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. {ECO:0000269PubMed:22405089, ECO:0000269PubMed:22426308, ECO:0000269PubMed:22426309}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Widely expressed with high levels in heart, skeletal muscle and kidney. {ECO:0000269PubMed:11988099, ECO:0000269PubMed:12200431, ECO:0000269PubMed:12665591}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.
They are also associated with 13 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 | Q8NFD5 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q8NFD5 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 57492 | ||||||||||||||||||||||
UniGene | Hs.743329 | ||||||||||||||||||||||
RefSeq | NP_059989 | ||||||||||||||||||||||
HUGO | HGNC:18040 | ||||||||||||||||||||||
OMIM | 614556 | ||||||||||||||||||||||
CCDS | CCDS5251 | ||||||||||||||||||||||
HPRD | 10660 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB033061 AF253515 AF259792 AF468300 AF521671 AJ001216 AL049820 AL162578 AL355297 AL591545 Y08266 | ||||||||||||||||||||||
GenPept | AAG36928 AAL76077 AAN03447 AAN70985 BAA86549 CAA69592 CAH71534 CAI40014 CAI40664 CAI40666 CAI42305 CAI42308 | ||||||||||||||||||||||