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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
RNA
TRANSCRIPTS type messenger
text 5' region of the pre-mRNA can be alternatively spliced
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 2490 - 786 - 2009 19509288
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
Reproductivefemale systemuteruscervix highly
 female systemuterus  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
cell lineage
cell lines
fluid/secretion
at STAGE
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