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FLASH GENE
Symbol SMARCB1 contributors: mct/pgu - updated : 15-02-2010
HGNC name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
HGNC id 11103
Corresponding disease
CSSSB1 Coffin-siris syndrome
MRBDT malignant rhabdoid tumors
SCWT schwannomatosis
Location 22q11.23      Physical location : 24.129.149 - 24.176.704
Synonym name
  • BRG1 (brm/SWI2-related gene 1) associated factor 47
  • integrase interactor 1
  • malignant rhabdoid tumor suppressor
  • sucrose nonfermenting, yeast, homolog-like 1
  • Synonym symbol(s) BAF47, SNF5, INI1, RDT, SNF5L1, Snr1, Sfh1p, hSNF5
    DNA
    TYPE functioning gene
    STRUCTURE 47.56 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    RTDR1 22q11.2 rhabdoid tumor deletion region gene 1 GNAZ 22q11.22 guanine nucleotide binding protein (G protein), alpha z polypeptide RAB36 22q11.2 RAB36, member RAS oncogene family BCR 22q11.23 breakpoint cluster region FBXW3 22q11 F-box and WD-40 domain protein 3 LOC343851 22q11.23 similar to hypothetical protein FLJ31547 FLJ31568 22q11.23 hypothetical protein FLJ31568 LOC388882 22 hypothetical gene supported by BC036910 LOC388883 22 similar to Gag-Pro-Pol protein IGLL1 22q11.22 immunoglobulin lambda-like polypeptide 1 LOC391321 22 similar to Rhabdoid tumor deletion region protein 1 LOC51233 22q11.2 hypothetical protein LOC51233 LOC388884 22 similar to Immunoglobulin lambda-like polypeptide 1 precursor (Immunoglobulin-related 14.1 protein) (Immunoglobulin omega polypeptide) (Lambda 5) (CD179b antigen) ASLL 22q11.22 argininosuccinate lyase-like Rgr 22q11.23 Ral-GDS related protein Rgr ZNF70 22q11.22 zinc finger protein 70 (Cos17) VPREB3 22q11.2 pre-B lymphocyte gene 3 FLJ36561 22q11.23 hypothetical protein FLJ36561 MMP11 22q11.22 matrix metalloproteinase 11 (stromelysin 3) SMARCB1 22q11.23 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 FLJ43842 22q11.23 FLJ43842 protein SLC2A11 22q11.2 solute carrier family 2 (facilitated glucose transporter), member 11 MIF 22q11.22 macrophage migration inhibitory factor (glycosylation-inhibiting factor) LOC284890 22q11.23 similar to lymphocyte activation-associated protein; kelch (Drosophila)-like 5 DDT 22q11.23 D-dopachrome tautomerase GSTT2 22q11.23 glutathione S-transferase theta 2 HS322B1A 22q12 hypothetical protein HS322B1A LOC391322 22 similar to D-dopachrome tautomerase (Phenylpyruvate tautomerase II) GSTT1 22q11.23 glutathione S-transferase theta 1 LOC343854 22q11.23 similar to RIKEN cDNA 4930583C14 CABIN1 22q11.2-q12.3 similar to RIKEN cDNA 4930583C14 BK65A6.2 GGTLA1 22q11.2 gamma-glutamyltransferase-like activity 1 LOC339661 22q11.23 similar to Gamma-glutamyltransferase-like protein 4 DKFZP434P211 22q11.22 POM121-like protein LOC388885 22 LOC388885 KIAA0376 22q11.2-q12.3 LOC388885 ADORA2A 22q11.22 adenosine A2a receptor
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1717 - 385 - 2006 16772295
  • isoform a
  • a compensatory effect exists between SNF5 isoforms, possibly to maintain a proper level of SNF5 proteins, suggesting that SNF5 is necessary for cell survival
  • SNF5a and SNF5b can functionally compensate each other and that lack of both isoforms impairs cell proliferation
  • 9 - 1690 - 376 - 2006 16772295
  • isoform b
  • a compensatory effect exists between SNF5 isoforms, possibly to maintain a proper level of SNF5 proteins, suggesting that SNF5 is necessary for cell survival
  • SNF5a and SNF5b can functionally compensate each other and that lack of both isoforms impairs cell proliferation
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus   highly
    Cardiovascularheart   highly
    Digestiveliver   moderately
    Endocrinepancreas   highly
    Nervousbrain   moderately
    Reproductivemale systemprostate  highly
    Respiratorylung   highly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two highly conserved imperfect repeats (Rpt1, Rpt2) important for interaction with HIV integrase one with MYC
  • a C terminal coiled coil region
  • HOMOLOGY
    interspecies ortholog to murine Smarcb1 (100.00pc)
    ortholog to rattus Smarcb1 (100.00pc)
    Homologene
    FAMILY
  • SNF5 family
  • CATEGORY DNA associated , transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • actin-dependent regulator of chromatin
  • involved in cell cycle control pathway
  • involved in the oncogenesis of tumors with a completely different histology and prognosis
  • required for upregulation of BNIP3L by IGFBP7
  • promotes nucleotide excision repair by influencing ATM recruitment and downstream H2AFX phosphorylation
  • exerts ploidy control through a pathway that includes CDKN2A, cyclin D, CDK4, RB and E2F
  • role in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas
  • has a protective role in the DNA damage response
  • key mediator of HH signaling and aberrant activation of GLI1 is a previously undescribed targetable mechanism contributing to the growth of malignant rhabdoid tumors cells
  • loss of SMARCB1 drives cancer formation through simultaneous epigenetic perturbation of GLI1 and other key cancer-promoting pathways, several of which may thus constitute viable therapeutic targets
  • represses Aurora A transcription in a cell-type-specific manner
  • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the chromatin remodeling complex
  • component of SWI/SNF chromatin remodeling enzymes that contain SNF2 family ATPases BRM (Brahma) or BRG1 (Brahma Related Gene 1)
  • component of the WINAC complex, at least composed of SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B
  • INTERACTION
    DNA binding to double-strand DNA
    RNA
    small molecule
    protein
  • previously shown to interact with HIV integrase
  • part of a pathway in which IGFBP7 increases expression of SMARCB1, which in turn leads to increased expression of BNIP3L culminating in apoptosis
  • interacting with MYK and MAEL
  • interacting with PPP1R15A
  • HIV-1 integrase and SMARCB1 bind SAP18 and selectively recruit components of SIN3a-HDAC1 complex into HIV-1 virions
  • required for TP53 transcriptional activity, and induction of prosurvival TP53 targets, including CDKN1A and MDM2, may have a role in SMARCB1 prosurvival activity
  • interacts with GLI1 (localizes to GLI1-regulated promoters and loss of SMARCB1 leads to activation of the HH-GLI pathway)
  • RB1CC1 essentially requires binding with SMARCB1, a chromatin-remodeling factor) to activate the CDKN2A promoter, in order to enhance the RB1 pathway and acts as a tumor suppressor
  • CHFR interacts with SMARCA4, SMARCB1, and SMARCD1 of the SWI/SNF-like BAF complex and ubiquitinates them to target for degradation through a proteasome-mediated pathway, and SMARCC1 stabilizes these components by blocking their interaction with CHFR
  • SMARCA4, SMARCB1, and SMARCD1, but not SMARCC1, are the substrates of CHFR for ubiquitination
  • interacts with CHFR through its RPT2 region
  • SMARCB1 is indispensable for GADD45GIP1-enhanced TP53 activity and its function in the suppression of cell cycle arrest in human cancer cells
  • cell & other
  • matrix associated
  • REGULATION
    Other phosphorylated upon DNA damage
    ASSOCIATED DISORDERS
    corresponding disease(s) MRBDT , SCWT , CSSSB1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in chromic myeloid leukemia
    tumoral   LOH    
    in meningiomas
    tumoral   deletion    
    or mutated in malignant rhabdoid tumor or atypical teratoid tumor
    tumoral somatic mutation      
    in plexus carcinoma
    tumoral       loss of function
    stimulates cell cycle progression and cooperates with p53 loss in oncogenic transformation, in infantile malignant rhabdoid tumors, and epithelioid sarcomas
    tumoral germinal mutation     loss of function
    mutation loss of functio in familial schwannomatosis
    tumoral   deletion    
    predisposing to malignant rhabdoid tumor
    tumoral   LOH    
    in schwannomatosis
    tumoral germinal mutation      
    associated with somatic NF2 mutations in familial multiple meningiomas
    constitutional germinal mutation     loss of function
    ID via EHMT1-associated chromatin modification module
    Susceptibility
  • to familial schwannomatosis
  • to malignant rhabdoid tumor
  • Variant & Polymorphism insertion/deletion deletion in malignant rhabdoid tumor
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS