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    MPV17 MPV17, mitochondrial inner membrane protein [ Homo sapiens (human) ]

    Gene ID: 4358, updated on 5-Nov-2017
    Official Symbol
    MPV17provided by HGNC
    Official Full Name
    MPV17, mitochondrial inner membrane proteinprovided by HGNC
    Primary source
    HGNC:HGNC:7224
    See related
    Ensembl:ENSG00000115204 MIM:137960; Vega:OTTHUMG00000097074
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SYM1; MTDPS6
    Summary
    This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    2p23.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (27309492..27323102, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27532360..27545969, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 30 member 3 Neighboring gene DnaJ heat shock protein family (Hsp40) member C5 gamma Neighboring gene tripartite motif containing 54 Neighboring gene urocortin Neighboring gene general transcription factor IIIC subunit 2 Neighboring gene GTF3C2 antisense RNA 1 Neighboring gene uncharacterized LOC105374363

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Peroxisome, organism-specific biosystem (from KEGG)
      Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
    • Peroxisome, conserved biosystem (from KEGG)
      Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    cellular response to reactive oxygen species IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cellular response to reactive oxygen species ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glomerular basement membrane development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    homeostatic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    inner ear development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrial genome maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of reactive oxygen species metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    protein Mpv17
    Names
    MpV17 mitochondrial inner membrane protein
    Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008075.1 RefSeqGene

      Range
      4463..18072
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002437.4NP_002428.1  protein Mpv17

      See identical proteins and their annotated locations for NP_002428.1

      Status: REVIEWED

      Source sequence(s)
      BC001115, BI602840, X76538
      Consensus CDS
      CCDS1748.1
      UniProtKB/Swiss-Prot
      P39210
      UniProtKB/TrEMBL
      A0A0S2Z3Z9
      Related
      ENSP00000369383.1, OTTHUMP00000122592, ENST00000380044.5, OTTHUMT00000214193
      Conserved Domains (1) summary
      pfam04117
      Location:109170
      Mpv17_PMP22; Mpv17 / PMP22 family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      27309492..27323102 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712021.3XP_006712084.1  protein Mpv17 isoform X3

      Conserved Domains (1) summary
      pfam04117
      Location:95158
      Mpv17_PMP22; Mpv17 / PMP22 family
    2. XM_017004150.1XP_016859639.1  protein Mpv17 isoform X2

    3. XM_005264326.3XP_005264383.1  protein Mpv17 isoform X1

      See identical proteins and their annotated locations for XP_005264383.1

      UniProtKB/Swiss-Prot
      P39210
      UniProtKB/TrEMBL
      A0A0S2Z3Z9
      Conserved Domains (1) summary
      pfam04117
      Location:109170
      Mpv17_PMP22; Mpv17 / PMP22 family
    4. XM_017004151.1XP_016859640.1  protein Mpv17 isoform X3

      Conserved Domains (1) summary
      pfam04117
      Location:95158
      Mpv17_PMP22; Mpv17 / PMP22 family
    5. XM_017004152.1XP_016859641.1  protein Mpv17 isoform X4

      Related
      ENSP00000349713.6, OTTHUMP00000201075, ENST00000357186.10, OTTHUMT00000325032
      Conserved Domains (1) summary
      pfam04117
      Location:58121
      Mpv17_PMP22; Mpv17 / PMP22 family

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      27462306..27475919 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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