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FLASH GENE
Symbol SMARCC1 contributors: mct - updated : 05-10-2015
HGNC name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
HGNC id 11104
Location 3p21.31      Physical location : 47.627.377 - 47.823.405
Synonym name
  • BRG1 (brm/SWI2-related gene 1) associated factor 155
  • SWI/SNF complex 155 kDa subunit
  • mammalian chromatin remodeling complex BRG1-associated factor 155
  • Synonym symbol(s) BAF155, Rsc8, SRG3, SWI3, CRACC1
    DNA
    TYPE functioning gene
    STRUCTURE 196.03 kb     28 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map cen - D12S85 - D12S361 - SMARCC1 - D12S312 - SMARCC2 /D12S1691 - D12S104 - D12S329 - qter
    Authors Ring (98)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 5780 - 1105 - 2005 16199878
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   moderately
     salivary gland   moderately
    Endocrinethyroid   moderately
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systembreastmammary gland moderately
     female systemovary  moderately
     female systemuteruscervix moderately
     male systemprostate  moderately
     male systemtestis  highly
    Respiratoryrespiratory tractlarynx  highly
    Urinarybladder   predominantly
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscular   moderately
    cell lineage in ES cells is compatible with self-renewal and pluripotency
    cell lines
    fluid/secretion moderately in lymph
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a SWIRM domain, (SWI3, RSC8, and MOIRA) domain
  • a SANT domain,(SWI3, ADA2, N-CoR, and TFIIIB) domain
  • a C-terminus proline-glutamine rich domain playing a critical role in the tumor suppressor activity of this protein
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to rattus Smarcc1 (95.4 pc)
    homolog to murine Srg3 (94.7 pc)
    Homologene
    FAMILY
  • SWI/SNF family
  • SMARCC family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology)
  • may stimulate the ATPase activity of the catalytic subunit of the complex
  • has a scaffold function in stabilizing the SWI/SNF-like BAF complex by interacting directly with the core subunits SMARCA4, SMARCB1, and SMARCD1
  • is potentially required for angiogenesis and visceral endoderm development in the yolk sac
  • novel function in tumor suppression, providing insights into genetic pathways dictating tumor suppression by the SWI/SNF complex
  • SMARCC2, SMARCC1 play essential roles in specification, olfactory neural stem cells (oNSCs) proliferation and olfactory receptor neurons (ORNs) maturation of developing olfactory epithelium
  • SMARCC1 SWIRM is a modular domain involved in SMARCB1 interaction, which is functionally distinct from other characterized SWIRM domains that possess DNA binding activity
  • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    text
  • actin-dependent regulator of chromatin structure
  • PATHWAY
    metabolism
    signaling
    a component
  • component of five multiprotein chromatin-remodeling complexes
  • phosphorylated on undefined residues at the G2/M transition by ERK1 and other kinases
  • core component of SWI/SNF complex
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interacts with SMARCA4 through its highly conserved SANT domain
  • function as a tumor suppressor by modulating CDKN1A expression
  • 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
  • interacts with SMARCB1 and SMARCD1 through its conserved SWIRM domain
  • stabilizes SMARCD1 by inhibiting the ubiquitination of SMARCD1, which is induced by CHFR
  • RBM15, a subunit of the m6A methyltransferase complex, interacts with SMARCC1 mRNA and mediates BAF155 mRNA degradation through the mRNA methylation machinery
  • cell & other
  • matrix associated
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    represents a mechanism for inactivation of SWI/SNF complex activity in the development in human cancer
    constitutional   deletion    
    in the hematopoietic lineage caused defects at both the common lymphoid progenitor stage and the transition from pre-pro-B to early pro-B cells due to failures in the expression of B lineage-specific genes, such as EBF1 and IL7R (
    constitutional       loss of function
    promoted G1 cell-cycle arrest, but antagonized apoptotic response to DNA damage by robustly inducing TP53 and CDKN1A proteins
    tumoral     --over  
    in prostate cancer and reveal a positive correlation with tumour dedifferentiation, progression, metastasis and time to recurrence
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Srg3 heterozygous mice were prone to sarcoma formation, which was further enhanced by haploinsufficiency of tp53