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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
    Physical map
    MAPRE3 2p23.3-p23.1 microtubule-associated protein, RP/EB family, member 3 FLJ20254 2p23.3 hypothetical protein FLJ20254 FLJ21839 2p23.3 hypothetical protein FLJ21839 EMILIN1 2p23.3-p23.2 elastin microfibril interfacer 1 KHK 2p23.3-p23.2 ketohexokinase (fructokinase) CGREF1 2p23.3 cell growth regulator with EF hand domain 1 ABHD1 2p23.3 abhydrolase domain containing 1 PREB 2p23 prolactin regulatory element binding MGC44505 2p23.3 hypothetical protein MGC44505 LOC391360 2 similar to class II basic helix-loop-helix protein TCF23 SLC5A6 2p23 solute carrier family 5 (sodium-dependent vitamin transporter), member 6 APR-3 2p23.3 solute carrier family 5 (sodium-dependent vitamin transporter), member 6 CAD 2p22-p21 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase SLC30A3 2p23.3 solute carrier family 30 (zinc transporter), member 3 FLJ40417 2p23.3 gamma cysteine string protein RNF30 2p23.3 ring finger protein 30 UCN 2p23-p21 urocortin MPV17 2p23 MpV17 transgene, murine homolog, glomerulosclerosis GTF3C2 2p23.3 general transcription factor IIIC, polypeptide 2, beta 110kDa EIF2B4 2p23.3 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa SNX17 2p23-p22 sorting nexin 17 ZNF513 2p23.3 zinc finger protein 513 PPM1G 2p33.3 protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform NRBP 2p23 nuclear receptor binding protein KCP3 SLB 2p23.3 selective LIM binding factor, rat homolog FRCP1 GCKR 2p23.3-p23.2 glucokinase (hexokinase 4) regulatory protein DKFZp434G118 ZNF512 2p23 zinc finger protein 512 FLJ13646 2p23.3 hypothetical protein FLJ13646 XAB1 2p23.3 XPA binding protein 1 STAF65(gamma) 2pter-p25.1 SPTF-associated factor 65 gamma SLC4A1AP 2p23.3 solute carrier family 4 (anion exchanger), member 1, adaptor protein
    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