InnateDB Protein
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IDBP-292797.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SMARCB1
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Protein Name
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SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
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Synonyms
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BAF47; hSNFS; INI1; MRD15; PPP1R144; RDT; RTPS1; Sfh1p; SNF5; SNF5L1; Snr1; SWNTS1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000383984
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InnateDB Gene
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IDBG-2584 (SMARCB1)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
174
[view]
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Protein-DNA |
10
[view]
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Protein-RNA |
0
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DNA-DNA |
3
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
16 [view]
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Molecular Function |
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Biological Process |
GO:0006281
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DNA repair
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GO:0006337
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nucleosome disassembly
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GO:0006338
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chromatin remodeling
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GO:0006351
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transcription, DNA-templated
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GO:0006357
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regulation of transcription from RNA polymerase II promoter
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GO:0007399
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nervous system development
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GO:0008285
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negative regulation of cell proliferation
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GO:0015074
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DNA integration
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GO:0030154
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cell differentiation
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GO:0039692
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single stranded viral RNA replication via double stranded DNA intermediate
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GO:0043044
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ATP-dependent chromatin remodeling
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GO:0043923
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positive regulation by host of viral transcription
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GO:0044772
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mitotic cell cycle phase transition
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GO:0045944
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positive regulation of transcription from RNA polymerase II promoter
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GO:0051091
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positive regulation of sequence-specific DNA binding transcription factor activity
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Cellular Component |
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PDB ID |
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InterPro |
IPR006939
SNF5/SMARCB1/INI1
IPR017393
SWI/SNF chromatin-remodeling complex, component hSNF5/Ini1
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PFAM |
PF04855
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PRINTS |
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PIRSF |
PIRSF038126
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q12824
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PhosphoSite |
PhosphoSite-Q12824
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
6598
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UniGene |
Hs.534350
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RefSeq |
NP_001007469
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HUGO |
HGNC:11103
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OMIM |
601607
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CCDS |
CCDS46671
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HPRD |
03364
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IMGT |
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EMBL |
AB017523
AJ011737
AJ011738
AK021419
BC117114
BC143667
CH471095
CR456581
DQ230988
U04847
Y17118
Y17119
Y17120
Y17121
Y17122
Y17123
Y17124
Y17125
Y17126
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GenPept |
AAA81905
AAI17115
AAI43668
ABB02184
BAC77068
BAG51033
CAA09758
CAA09759
CAA76639
CAG30467
EAW59606
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