Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MPV17 contributors: mct/npt - updated : 18-06-2010
HGNC name MpV17 mitochondrial inner membrane protein
HGNC id 7224
Corresponding disease
MDDS3 mitochondrial DNA depletion syndrome 3, hepatocerebral form
Location 2p23.3      Physical location : 27.532.361 - 27.545.969
Synonym name
  • MpV17 transgene, murine homolog, glomerulosclerosis
  • glomerulosclerosis
  • Mpv17 protein
  • Synonym symbol(s) SYM1
    DNA
    TYPE functioning gene
    STRUCTURE 13.61 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    regionally located located in the 5'utr region of the UCN gene
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1051 - 176 - Navarro-Sastre (2008)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
     thyroid   highly
    Nervousbrain    
    Reproductivefemale systembreastmammary gland highly
     female systemovary  highly
    Respiratorylung    
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    Epithelialsecretoryglandularendocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine glomerulosclerosis gene Mpv17
    ortholog to yeast Sym1
    Homologene
    FAMILY
  • peroxisomal membrane protein PXMP2/4 family
  • MPV17 subfamily
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    text located in the inner mitochondrial membrane (Dallabona 2010)
    basic FUNCTION
  • may be implicated in the metabolism of reactive oxygen species
  • playing a role in controlling MtDNA maintenance and OXPHOS activity
  • essential to maintain OXPHOS, glycogen storage, mitochondrial morphology and mtDNA stability in stressing conditions such as high temperature and ethanol-dependent growth (Dallabona 2010)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MDDS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    leads to impairment of mitochondrial bioenergetic functions and morphological features during stress conditions (Dallabona 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS