InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ARID1B

Summary

InnateDB Protein

IDBP-98330.7

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

ENSP00000344546

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.

Experimentally validated
Total	39 [view]
Protein-Protein	39 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	13 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003713	transcription coactivator activity
GO:0005488	binding
GO:0005515	protein binding

Biological Process

GO:0006338	chromatin remodeling
GO:0006351	transcription, DNA-templated
GO:0007399	nervous system development
GO:0048096	chromatin-mediated maintenance of transcription