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FLASH GENE
Symbol SMARCA1 contributors: mct - updated : 04-05-2015
HGNC name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
HGNC id 11097
Location Xq25      Physical location : 128.580.479 - 128.657.460
Synonym name
  • SNF2 (sucrose non fermenting yeast, homolog)-like 1
  • imitation switch
    • Synonym symbol(s) SNF2L, SNF2L1, SNF2LB, SWI2, ISWI
    DNA
    TYPE functioning gene
    STRUCTURE 76.98 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • minimal promoter was located between positions &
    • 8722;152 to &
    8722;86 relative to the transcription start site
  • a cAMP-response element (CRE) located at &
    • 8722;99 to &
    8722;92 and a Sp1-binding site at &
    8722;145 to &
    8722;135 that play a critical role in regulating basal activity
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 4102 - 1054 - 2004 15310751
    - - 4067 - 1054 predominant in non-neuronal tissue 2004 15310751
  • contains a nonconserved in-frame exon within the conserved catalytic core domain of SNF2L
  • retaining the ability to incorporate into multiprotein complexes and however, it is devoid of enzymatic activity
  • catalytically inactive (PMID: 20974961)
    • 24 - 4066 - 1042 - 2004 15310751
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear   highly
    Nervousbrain   highly Homo sapiens
    Reproductivefemale systemovary  highly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • helicase domain, a DNA dependent ATPase/SNF2/DNA helicase activity,
  • a conserved ATPase domain that belongs to the superfamily of DEAD/H-helicases (
  • a bromodomain motif, a SNF2 helicase and two SANT domains at the C terminus
    • HOMOLOGY
    interspecies homolog to Drosophila ISWI (imitation of SWI)
    homolog to yeast S.cerevisiae SWI/SNF general transcriptional activator
    intraspecies paralog to SMARCx
    Homologene
    FAMILY SNF2/Rad54 helicase family
    CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • actin-dependent regulator of chromatin structure
  • promoting neurite outgrowth and may be playing a role in the differentiation and maturation of neurons during development, and regulating the engrailed homeotic genes, important regulators of brain development
  • involved in multiple nuclear functions, including transcriptional regulation, replication, and chromatin assembly
  • have gene-specific effects on transcription during terminal differentiation
  • physiological target of PARP1 and poly-ADP-ribosylation can be a new, important post-translational modification regulating the activity of ATP-dependent nucleosome remodelers
  • chromatin remodeling gene expressed in diverse tissues, that contributes to the chromatin remodeling complex that facilitates transcription
  • chromatin-remodeling complexes sample nucleosomes via transient binding reactions and become immobilized at active sites
  • evolutionarily conserved nucleosome remodelling factor that regulates gene expression and chromosome organization genome-wide
  • SMARCA1, SMARCA5 are ATP-dependent chromatin remodelling proteins that assemble, reposition and space nucleosomes, and are robustly expressed in the brain
  • SMARCA5 and SMARCA1 position nucleosomes adjacent to CTCF and other transcription factors
  • mobilize nucleosomes to control DNA accessibility and, in some cases, are required for recovery from DNA damage
    • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • the chromatin remodeling complexes (NURF complex)
    • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP
    protein
  • actin
  • associated with the proximal promoter of the steroidogenic acute regulatory protein (STAR) gene, a classic marker of luteinization in granulosa cells, interaction required for STAR expression
  • evolutionary conserved nucleosome-remodeling ATPase interacting with the poly-ADP-ribose polymerase PARP1 (
  • CECR2 is a binding partner of SMARCA1 and is involved in neural tube closure and inner ear development
  • ISWI proteins SMARCA1, SMARCA5 interact with BAZ (bromodomain adjacent to PHD zinc finger) domain containing proteins to generate eight distinct remodeling complexes
    • cell & other matrix associated
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS