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FLASH GENE
Symbol SMARCA5 contributors: mct/npt/pgu - updated : 19-10-2018
HGNC name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
HGNC id 11101
Location 4q31.21      Physical location : 144.434.615 - 144.474.566
Synonym name
  • SNF2H containing chromatin remodeling complex
  • imitation Switch
  • sucrose nonfermenting protein 2 homolog
  • sucrose nonfermenting-like 5
  • Synonym symbol(s) SNF2H, WCRF135, ISWI
    EC.number 3.6.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 39.95 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    text structure DNA binding domains, SWI3, ADA2, N-Cor and TF3B
    MAPPING cloned Y linked N status provisional
    Physical map
    UCP1 4q28-q31 uncoupling protein 1 (mitochondrial, proton carrier) KIAA0882 4q31.1 KIAA0882 protein LOC389225 4 LOC389225 LOC389226 4 similar to ring finger protein 130; g1-related zinc finger protein RNF150 4q31.1 ring finger protein 150 LOC389227 4 LOC389227 ZNF330 4q31.1-q31.2 LOC389227 LOC389228 4 similar to GRIK2 protein IL15 4q31 interleukin 15 INPP4B 4q31.11 inositol polyphosphate-4-phosphatase, type II, 105kDa USP38 4q31.1 ubiquitin specific protease 38 GAB1 4q31.4-q13.5 GRB2-associated binding protein 1 SMARCA5 4q31.1-q31.2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 LOC389229 4 similar to Beta-glucuronidase precursor (Beta-G1) LOC166752 4q31.1 similar to embryonic blastocoelar extracellular matrix protein precursor GYPE 4q31 glycophorin E LOC152891 4q31.1 similar to WW45 protein GYPB 4q28-q31 glycophorin B (includes Ss blood group) GYPA 4q28.2-31.1 glycophorin A (includes MN blood group) LOC391703 4 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) HHIP 4q28-q32 hedgehog interacting protein LOC345041 4q31.21 similar to 60 kDa heat shock protein, mitochondrial precursor (Hsp60) (60 kDa chaperonin) (CPN60) (Heat shock protein 60) (HSP-60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein) (HuCHA60) APC10 4q31 similar to 60 kDa heat shock protein, mitochondrial precursor (Hsp60) (60 kDa chaperonin) (CPN60) (Heat shock protein 60) (HSP-60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein) (HuCHA60) ABCE1 4q31 ATP-binding cassette, sub-family E (OABP), member 1 HSHIN1 4q31.21 HIV-1 induced protein HIN-1 LOC389230 4 LOC389230 LOC152905 4q31.21 similar to Reticulon protein 3 (Neuroendocrine-specific protein-like 2) (NSP-like protein II) (NSPLII) FLJ13262 4q31.21 hypothetical protein FLJ13262 MADH1 4q28 MAD, mothers against decapentaplegic homolog 1 (Drosophila) DKFZP586M0622 LOC345045 4q31.21 similar to nuclear receptor coactivator 4; RET-activating gene ELE1 MMAA LOC152485 4q31.21 hypothetical protein LOC152485 LSM6 4q31.21 LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) LOC345051 4q31.21 similar to MGC53273 protein DKFZP566M114 4q31.21 hypothetical protein DKFZp566M114
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 3866 - 1052 - 2000 10655480
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
    Nervousbrain   highly Homo sapiens
    Reproductivemale systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • ATPase domain containing a leucine zipper motif
  • DEAD (Asp-Glu-Ala-Asp) box helicase domain, a conserved ATPase domain that belongs to the superfamily of DEAD/H-helicases (
  • 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 related protein general transcriptional activator
    intraspecies paralog to SMARCA1
    Homologene
    FAMILY
  • SNF2/RAD54 helicase family
  • ISWI subfamily
  • CATEGORY regulatory , DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    intracellular,nucleus,nucleolus
    text colocalizing with UBTF and BAZ2A in the nucleolus
    basic FUNCTION
  • actin-dependent regulator of chromatin
  • playing a role in chromatin remodeling by mediating the association of cohesin and chromatin
  • may control germline stem cell self-renewal in the ovary
  • involved in multiple nuclear functions, including transcriptional regulation, replication, and chromatin assembly
  • mediate nucleosome assembly and spacing during replication
  • possesses nucleosome-dependent ATPase activity, whereas RSF1 (HBXAP) functions as a histone chaperone
  • both the full-length RSF1 and SMARCA5 were required to form a functional RSF complex responsible for the growth suppression effects
  • BAZ1A and SMARCA5, accumulate rapidly at DNA double-strand breaks and are required for DSB repair
  • evolutionarily conserved nucleosome remodelling factor that regulates gene expression and chromosome organization genome-wide
  • controls chromatin organization and histone H1 dynamics for the establishment of gene expression programs underlying cerebellar morphogenesis and neural maturation
  • SMARCA1, SMARCA5 are ATP-dependent chromatin remodelling proteins that assemble, reposition and space nucleosomes, and are robustly expressed in the brain
  • SMARCA5 targeting to DNA damage-stalled transcription sites is controlled by an ATP-hydrolysis-dependent scanning and proofreading mechanism, highlighting how SWI2/SNF2 chromatin remodelers identify and bind nucleosomes containing damaged DNA
  • SMARCA5 contributes to breast cancer cell proliferation and invasion
  • SMARCA5 and SMARCA1 position nucleosomes adjacent to CTCF and other transcription factors
  • SMARCA4 and SMARCA5 are catalytic subunits of distinct ATP-dependent chromatin remodeling complexes implicated in transcriptional regulation
  • is essential for the establishment of lens vesicle polarity, partitioning of prospective lens epithelial and fiber cell compartments, lens fiber cell differentiation, and lens fiber cell nuclear degradation
  • is one of the most conserved chromatin remodeling factors
  • SMARCA5 plays indispensable roles during early hematopoiesis and erythropoiesis
  • ISWI proteins SMARCA1, SMARCA5 interact with BAZ (bromodomain adjacent to PHD zinc finger) domain containing proteins to generate eight distinct remodeling complexes (
  • RSF1 is recruited at double strand break (DSB) sites and regulates ataxia telangiectasia mutated (ATM) -dependent checkpoint pathway upon DNA damage for the efficient repair
  • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the nucleolar chromatin remodeling complexes and of the chromatin remodeling and spacing factor RSF
  • complexing with BAZ1B (BAZ1B/SMARCA5 complex has a role in the maintenance of chromatin structures during DNA replication)
  • part of a multiprotein complex that contains WICH, a chromatin remodelling complex containing BAZ1B (Williams syndrome transcription factor), SMARCA5, MYO1C
  • principal determinant of rDNA silencing is the nucleolar remodelling complex, NoRC, that consists of BAZ2A and the ATPase SMARCA5
  • INTERACTION
    DNA binding
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • RAD21 for chromatin remodeling
  • binds to unacetylated histone H4 tails, suggesting that deacetylase activity of the corepressor complex is critical to its function
  • interacting with HDAC3 (HDAC3 as well as SMARCA5 are required for nucleosomal organization on the thyroid hormone receptor target gene)
  • RSF1 interacts with sucrose nonfermenting protein 2 homologue (SNF2H) to form a chromatin remodeling complex that participates in several biological processes
  • CECR2 contributes to spermatogenesis and forms a complex that includes the other ISWI ATPase SMARCA5 in the testis
  • functional interaction between CEBPB and SMARCA5/BAZ1A, characterized mainly by suppression of CEBPB transactivation activity in the presence of SMARCA5 and BAZ1A
  • CNBP up-regulates TBX2 and SMARCA5, and down-regulates WNT5B gene expression
  • RSF1 facilitates the assembly of centromere proteins CENPS and STRA13 at sites of DNA damage, while SMARCA5 was not required for these events
  • SMARCA5 plays a major role organising arrays of nucleosomes adjacent to the binding sites for the architectural transcription factor CTCF sites and acts to promote CTCF binding
  • chromatin remodeling factor SMARCA5 is a novel binding partner of XRCC1, with their interaction dependent on the casein kinase 2-mediated constitutive phosphorylation of XRCC1
  • interacts with different accessory proteins and represents a molecular motor for DNA replication, repair, and transcription
  • mobilize nucleosomes to control DNA accessibility and, in some cases, are required for recovery from DNA damage
  • temporal regulation of RSF1 levels at its post-translational modification by SMARCA5 and ATM is essential for efficient DNA repair
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast cancer and correlated with poor prognosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS