Gene content    
SMARCB1 ( by HUGO)
SWI/SNF Related, Matrix Associated, Actin Dependent Regulator...
Tumor suppressor gene
SWI/SNF Related
Matrix Associated
Actin Dependent Regulator Of Chromatin
Subfamily B
Member 1
SNF5L1
INI1
Malignant Rhabdoid Tumor Suppressor
Integrase Interactor 1 Protein
BAF47
BRG1-Associated Factor 47
hSNF5
SNF5 Homolog
MRD15
RDT
RTPS1
SNF5
SWNTS1
Homolog-Like 1
Integrase Interactor 1
Sucrose Nonfermenting
yeast
Sfh1p
Snr1
hSNFS
Sucrose Nonfermenting
Yeast
Homolog-Like 1
SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily B Member 1
SWI/SNF-Related Matrix-Associated Protein
NCBI: 22q11.23|22q11    Ensembl: 22q11.23
SNF5_HUMANSize: 385 amino acidsMass: 44141 Da

  • Subunit: Component of the BAF (hSWI/SNF) complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57 SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Component of the WINAC complex, at least composed of SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B. Binds to double-stranded DNA. Interacts with MYK and MAEL. Interacts with PPP1R15A. Binds tightly to the human immunodeficiency virus-type 1 (HIV-1) integrase in vitro and stimulates its DNA-joining activity. Interacts with human papillomavirus 18 E1 protein to stimulate its viral replication. Interacts with Epstein-Barr virus protein EBNA-2. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity)
  • Function:
    UniProtKB/Swiss-Prot Summary: SNF5_HUMAN, Q12824 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
  • Similarity:
    Belongs to the SNF5 family [IMAGE]
  • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR006939SNF5SNF5/SMARCB1/INI1Family
    BlocksIPB006939SNF5/SMARCB1/INI1SNF5/SMARCB1/INI1

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process ATP-dependent chromatin remodeling IDA GOA 16217013
    chromatin remodeling IDA GOA 11726552
    DNA integration TAS GOA 7801128
    nucleosome disassembly IDA GOA 8895581
    positive regulation by host of viral transcription IMP GOA 16687403
    positive regulation of sequence-specific DNA binding transcription factor activity IDA GOA 11950834
    positive regulation of transcription from RNA polymerase II promoter IDA GOA 11950834
    regulation of transcription from RNA polymerase II promoter NAS GOA 8804307
    Cellular Component nuclear chromatin IDA GOA 16217013
    nucleoplasm TAS GOA 7801128
    protein complex IDA GOA 16217013
    SWI/SNF complex IDA GOA 11078522
    Molecular Function contributes_to nucleosomal DNA binding IDA GOA 16217013
    contributes_to RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA GOA 16217013
    contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding IDA GOA 16217013
    p53 binding IPI GOA 11950834
    protein binding IPI GOA 10078207
    Tat protein binding IPI GOA 16687403
    transcription coactivator activity NAS GOA 8804307
    transcription coactivator activity IMP GOA 16687403

    Disorder & Mutation    
    Source Disease
    SWISS-PROTRhabdoid 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
    SWISS-PROTSchwannomatosis (SCHWA) [MIM:162091]: Schwannomas are benign tumors of the peripheral nerve sheath that usually occur singly in otherwise normal individuals. Multiple schwannomas in the same individual suggest an underlying tumor-predisposition syndrome. The most common such syndrome is NF2. The hallmark of NF2 is the development of bilateral vestibular-nerve schwannomas; but two-thirds or more of all NF2-affected individuals develop schwannomas in other locations, and dermal schwannomas may precede vestibular tumors in NF2-affected children. There have been several reports of individuals with multiple schwannomas who do not show evidence of vestibular schwannoma. Clinical report suggests that schwannomatosis is a clinical entity distinct from other forms of neurofibromatosis. Note=The disease is caused by mutations affecting the gene represented in this entry

    SMARCB1 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene