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Symbol SUPV3L1 contributors: mct/pgu - updated : 02-02-2013
HGNC name suppressor of var1, 3-like 1 (S. cerevisiae)
HGNC id 11471
Location 10q22.1      Physical location : 70.939.992 - 70.968.849
Synonym name
  • ATP-dependent RNA helicase SUPV3L1, mitochondrial
  • Synonym symbol(s) SUV3
    TYPE functioning gene
    STRUCTURE 28.86 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • housekeeping gene
  • presence of an enhancer region and regulatory elements in basal promoter including: (i) direct 10-bp-long repeats, (ii) Sp1 general transcription factor binding site, and (iii) NRF-1 transcription factor binding sites, the latter typical for nuclear-encoded mitochondrial genes
  • MAPPING cloned Y linked   status confirmed
    Physical map
    ATOH7 10q22.2 atonal homolog 7 (Drosophila) LOC389975 10 similar to keratin 19; keratin, type I cytoskeletal 19; keratin, type I, 40-kd; cytokeratin 19; 40-kDa keratin intermediate filament precursor gene MAWBP 10q21.1 similar to keratin 19; keratin, type I cytoskeletal 19; keratin, type I, 40-kd; cytokeratin 19; 40-kDa keratin intermediate filament precursor gene HNRPH3 10q22 heterogeneous nuclear ribonucleoprotein H3 (2H9) RUFY2 10q22.2 RUN and FYVE domain containing 2 DNA2L 10q21.3-q22.1 DNA2 DNA replication helicase 2-like (yeast) SLC25A16 10q21.3-q22.1 solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 LCX 10q21 leukemia-associated protein with a CXXC domain CARP-1 10q22.1 cell-cycle and apoptosis regulatory protein 1 C10orf24 10q22.1 chromosome 10 open reading frame 24 DDX50 10q22.1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 DDX21 10q21 DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 KIAA1279 10q22.1 KIAA1279 LOC389976 10 similar to actin 3 - fruit fly (Drosophila melanogaster) (fragments) PRG1 10q22.1 proteoglycan 1, secretory granule VPS26 10q21.1 vacuolar protein sorting 26 (yeast) SUPV3L1 10q22.1 suppressor of var1, 3-like 1 (S. cerevisiae) FLJ22761 10q22.1 hypothetical protein FLJ22761 HK1 10q22 hexokinase 1 TACR2 10q22.1 tachykinin receptor 2 NET-7 10q22.1 transmembrane 4 superfamily member tetraspan NET-7 NEUROG3 10q21.3 neurogenin 3 C10orf35 10q22.2 chromosome 10 open reading frame 35 LOC389977 10 similar to ribosomal protein L5; 60S ribosomal protein L5 COL13A1 10q21.2-q22.1 collagen, type XIII, alpha 1 LOC387686 10 LOC387686
    TRANSCRIPTS type messenger
    text 5' region of the pre-mRNA can be alternatively spliced
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2490 - 786 - 2009 19509288
    Type ubiquitous
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Reproductivefemale systemuteruscervix highly
     female systemuterus  highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    at STAGE
  • 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
    interspecies ortholog to yeast Suv3
  • family of NTPases/helicases
  • SUV3 enzymes may constitute a separate subfamily of helicases
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    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
    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
    small molecule
  • 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
    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
    Variant & Polymorphism
    Candidate gene
    Therapy target
    maintaining mtDNA integrity by SUPV3L1 helicase is critical for cancer suppression
  • 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