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FLASH GENE
Symbol SUPV3L1 contributors: mct/pgu - updated : 02-02-2013
HGNC name suppressor of var1, 3-like 1 (S. cerevisiae)
HGNC id 11471
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • the mostly helical N-terminal domain is positioned externally with respect to the core of the enzyme
  • a DEAD (Asp-Glu-Ala-Asp) box RNA helicase
  • two RecA-like domains form the tandem typical of all helicases from the SF2 superfamily which together with the C-terminal all-helical domain makes a ring structure through which the nucleotide strand threads
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to yeast Suv3
    Homologene
    FAMILY
  • family of NTPases/helicases
  • SUV3 enzymes may constitute a separate subfamily of helicases
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,nucleus
    basic FUNCTION
  • putative ATP-dependent RNA helicase
  • essential for maintenance of functional mitochondria
  • playing an essential role for maintaining proper
  • mitochondrial function, likely through a conserved role in mitochondrial RNA regulation
  • may exert a role in mtDNA replication
  • important for the maintenance of the skin barrier
  • suppress apoptotic death and sister chromatid exchange, and impair mitochondrial RNA metabolism and protein synthesis
  • co-purifies with PNPase, and this may suggest participation of both proteins in mtRNA metabolism
  • major player in mitochondrial RNA surveillance and decay, but its physiological role might go beyond this functional niche
  • physical and functional interactions with known RecQ helicase-associated proteins strengthen the hypothesis that it may play a significant role in nuclear DNA metabolism as well
  • direct role of SUV3 in maintaining mitochondrial genome stability that is independent of intron turnover but requires the intact ATPase activity and the CC conserved region
  • participates potentially in the maintenance of mitochondrial genomic stability that is separable from its involvement in RNA degradation and processing
  • harbors a distinct function that requires both ATPase activity and C-terminal conserved region for regulating mtDNA replication and maintaining mitochondrial genomic stability that is independent of its involvement in intron turnover
  • helicase that is involved in efficient turnover and surveillance of RNA in eukaryotes
  • is also indispensable for mitochondrial RNA decay but its ribonucleolytic partner has so far escaped identification
  • CELLULAR PROCESS cell life, antiapoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component SUPV3L1 dimer and NP trimer form a 330kDa heteropentamer capable of efficiently degrading dsRNA substrates in the presence of ATP, complex that may be the RNA-degrading complex in the mitochondria
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with the cofactor of survivin HBXIP (involvement in the survivin-dependent antiapoptotic pathway)
  • interact with BLM and WRN, members of the RecQ helicase family involved in multiple DNA metabolic processes, and in protection and stabilization of the genome
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    exhibited an up-regulation of TP53, mediating activation of CDKN1A, which has been shown to be the major regulator of the cellular senescence program
    constitutional       loss of function
    leads to accelerated aging-like phenotypes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    maintaining mtDNA integrity by SUPV3L1 helicase is critical for cancer suppression
    ANIMAL & CELL MODELS
  • disruption of the Supv3L1 gene in the mouse has been reported to be embryonic lethal at early developmental stages
  • Suv3+/- mice harbored increased mitochondrial DNA (mtDNA) mutations and decreased mtDNA copy numbers, leading to tumor development in various sites and shortened lifespan