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

    Gene ID: 4358, updated on 8-Jul-2021

    Summary

    Official Symbol
    MPV17provided by HGNC
    Official Full Name
    mitochondrial inner membrane protein MPV17provided by HGNC
    Primary source
    HGNC:HGNC:7224
    See related
    Ensembl:ENSG00000115204 MIM:137960
    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; CMT2EE; 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]
    Expression
    Ubiquitous expression in adrenal (RPKM 8.6), thyroid (RPKM 7.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MPV17 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (27309492..27323097, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27532360..27545964, 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 Sharpr-MPRA regulatory regions 9483 and 12628 Neighboring gene general transcription factor IIIC subunit 2 Neighboring gene GTF3C2 antisense RNA 1 Neighboring gene GTF3C2 antisense RNA 2

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to reactive oxygen species ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glomerular basement membrane development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in homeostatic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inner ear development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitochondrial genome maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of mitochondrial DNA metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of reactive oxygen species metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in peroxisomal membrane TAS
    Traceable Author Statement
    more info
     
    NOT located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in peroxisome NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    protein Mpv17
    Names
    MPV17, mitochondrial inner membrane protein
    MpV17 mitochondrial inner membrane protein
    Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4468..18072
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002437.5NP_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, ENST00000380044.6
      Conserved Domains (1) summary
      pfam04117
      Location:109170
      Mpv17_PMP22; Mpv17 / PMP22 family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      27309492..27323097 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:93154
      Mpv17_PMP22; Mpv17 / PMP22 family
    2. XM_017004150.1XP_016859639.1  protein Mpv17 isoform X2

      Conserved Domains (1) summary
      pfam04117
      Location:103164
      Mpv17_PMP22; Mpv17 / PMP22 family
    3. XM_005264326.4XP_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_024452913.1XP_024308681.1  protein Mpv17 isoform X3

      Conserved Domains (1) summary
      pfam04117
      Location:93154
      Mpv17_PMP22; Mpv17 / PMP22 family
    5. XM_017004151.1XP_016859640.1  protein Mpv17 isoform X3

      Conserved Domains (1) summary
      pfam04117
      Location:93154
      Mpv17_PMP22; Mpv17 / PMP22 family
    6. XM_017004152.1XP_016859641.1  protein Mpv17 isoform X4

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