InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ARID1A

Summary

InnateDB Protein

IDBP-94693.6

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

ENSP00000320485

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.

Experimentally validated
Total	72 [view]
Protein-Protein	69 [view]
Protein-DNA	1 [view]
Protein-RNA	1 [view]
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	15 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003713	transcription coactivator activity
GO:0005488	binding
GO:0005515	protein binding
GO:0016922	ligand-dependent nuclear receptor binding
GO:0031491	nucleosome binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001843	neural tube closure
GO:0003205	cardiac chamber development
GO:0003408	optic cup formation involved in camera-type eye development
GO:0006325	chromatin organization
GO:0006337	nucleosome disassembly
GO:0006338	chromatin remodeling
GO:0006351	transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0030520	intracellular estrogen receptor signaling pathway
GO:0030521	androgen receptor signaling pathway
GO:0030900	forebrain development
GO:0042766	nucleosome mobilization
GO:0042921	glucocorticoid receptor signaling pathway
GO:0043044	ATP-dependent chromatin remodeling
GO:0045893	positive regulation of transcription, DNA-templated
GO:0048096	chromatin-mediated maintenance of transcription
GO:0060674	placenta blood vessel development

Cellular Component

GO:0000790	nuclear chromatin
GO:0005622	intracellular
GO:0005634	nucleus
GO:0016514	SWI/SNF complex
GO:0071564	npBAF complex
GO:0071565	nBAF complex
GO:0090544	BAF-type complex