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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
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