InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SMARCB1

Summary

InnateDB Protein

IDBP-2586.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SMARCB1

Protein Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

Synonyms

BAF47; hSNFS; INI1; MRD15; PPP1R144; RDT; RTPS1; Sfh1p; SNF5; SNF5L1; Snr1; SWNTS1;

Species

Homo sapiens

Ensembl Protein

ENSP00000263121

InnateDB Gene

IDBG-2584 (SMARCB1)

Protein Structure

UniProt Annotation

Function

Core component of the BAF (hSWI/SNF) complex. This ATP- dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. 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). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1. 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. {ECO:0000250, ECO:0000269PubMed:10078207, ECO:0000269PubMed:12226744, ECO:0000269PubMed:12837248, ECO:0000269PubMed:14604992, ECO:0000269PubMed:16267391, ECO:0000269PubMed:16314535, ECO:0000269PubMed:9448295}.

Subcellular Localization

Nucleus.

Disease Associations

Rhabdoid tumor predisposition syndrome 1 (RTPS1) [MIM:609322]: A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood. Note=The disease is caused by mutations affecting the gene represented in this entry.Schwannomatosis 1 (SWNTS1) [MIM:162091]: A cancer syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves. {ECO:0000269PubMed:17357086, ECO:0000269PubMed:18072270}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Mental retardation, autosomal dominant 15 (MRD15) [MIM:614608]: 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. MRD15 patients manifest developmental delay, hypotonia, absent or hypoplastic fifth finger or toenails, a coarse facial appearance, sparse scalp hair, thick eyebrows, and long eyelashes. Additional variable features include microcephaly, small cerebellum, seizures, hearing loss, abnormal delayed dentition, hirsutism. {ECO:0000269PubMed:22426308}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 187 experimentally validated interaction(s) in this database.
They are also associated with 16 interaction(s) predicted by orthology.

Experimentally validated
Total	187 [view]
Protein-Protein	174 [view]
Protein-DNA	10 [view]
Protein-RNA	0
DNA-DNA	3 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	16 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0002039	p53 binding
GO:0003713	transcription coactivator activity
GO:0005515	protein binding
GO:0030957	Tat protein binding
GO:0031492	nucleosomal DNA binding

Biological Process

GO:0001824	blastocyst development
GO:0001835	blastocyst hatching
GO:0006281	DNA repair
GO:0006337	nucleosome disassembly
GO:0006338	chromatin remodeling
GO:0006351	transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0007399	nervous system development
GO:0008285	negative regulation of cell proliferation
GO:0015074	DNA integration
GO:0030154	cell differentiation
GO:0039692	single stranded viral RNA replication via double stranded DNA intermediate
GO:0043044	ATP-dependent chromatin remodeling
GO:0043923	positive regulation by host of viral transcription
GO:0044772	mitotic cell cycle phase transition
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity

Cellular Component

GO:0000228	nuclear chromosome
GO:0000790	nuclear chromatin
GO:0001741	XY body
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005730	nucleolus
GO:0016514	SWI/SNF complex
GO:0043234	protein complex
GO:0071564	npBAF complex
GO:0071565	nBAF complex