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P19258

- MPV17_MOUSE

UniProt

P19258 - MPV17_MOUSE

Protein

Protein Mpv17

Gene

Mpv17

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
  1. Functioni

    Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance Probable.1 Publication

    GO - Biological processi

    1. cellular response to reactive oxygen species Source: UniProtKB
    2. glomerular basement membrane development Source: UniProtKB
    3. homeostatic process Source: Ensembl
    4. inner ear development Source: UniProtKB
    5. mitochondrial genome maintenance Source: Ensembl
    6. reactive oxygen species metabolic process Source: MGI
    7. regulation of reactive oxygen species metabolic process Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein Mpv17
    Short name:
    Mpv-17
    Gene namesi
    Name:Mpv17
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 5

    Organism-specific databases

    MGIiMGI:97138. Mpv17.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrial inner membrane Source: UniProtKB-SubCell
    3. mitochondrion Source: MGI
    4. peroxisome Source: MGI

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Disruption phenotypei

    Mice lack expression of this protein resulting in the development of adult onset nephrotic syndrome and chronic renal failure. They also develop severe morphological degeneration of the inner ear. In the inner ear, mice lacking Mpv17 display degenerative changes of the cochlear structures already at the age of 2 months. The degenerative changes are patchy arranged throughout the entire length of the cochlea and involved the organ of Corti as well as the stria vascularis epithelia with alterations of the basement membrane of the capillaries.2 Publications

    Keywords - Diseasei

    Deafness

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 176176Protein Mpv17PRO_0000218928Add
    BLAST

    Proteomic databases

    PaxDbiP19258.
    PRIDEiP19258.

    Expressioni

    Tissue specificityi

    High levels in heart, kidney, and brain, intermediate levels in testis, and low levels in liver and spleen.

    Gene expression databases

    BgeeiP19258.
    CleanExiMM_MPV17.
    GenevestigatoriP19258.

    Structurei

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei18 – 3821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei53 – 7321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei94 – 11421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei131 – 15121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG44594.
    GeneTreeiENSGT00530000063005.
    HOGENOMiHOG000039675.
    HOVERGENiHBG105417.
    KOiK13348.
    OrthoDBiEOG7TQV25.
    TreeFamiTF324070.

    Family and domain databases

    InterProiIPR007248. Mpv17_PMP22.
    [Graphical view]
    PANTHERiPTHR11266. PTHR11266. 1 hit.
    PfamiPF04117. Mpv17_PMP22. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P19258-1 [UniParc]FASTAAdd to Basket

    « Hide

    MALWRAYQRA LAAHPWKVQV LTAGSLMGVG DMISQQLVER RGLQQHQAGR    50
    TLTMVSLGCG FVGPVVGGWY KVLDHLIPGT TKVHALKKML LDQGGFAPCF 100
    LGCFLPLVGI LNGMSAQDNW AKLKRDYPDA LITNYYLWPA VQLANFYLVP 150
    LHYRLAVVQC VAIVWNSYLS WKAHQF 176
    Length:176
    Mass (Da):19,686
    Last modified:November 1, 1990 - v1
    Checksum:i7060A7B122F77DB1
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M36411 mRNA. Translation: AAA39736.1.
    BC013452 mRNA. Translation: AAH13452.1.
    CCDSiCCDS19175.1.
    PIRiS29031.
    RefSeqiNP_032648.1. NM_008622.5.
    XP_006503833.1. XM_006503770.1.
    UniGeneiMm.435472.

    Genome annotation databases

    EnsembliENSMUST00000114631; ENSMUSP00000110278; ENSMUSG00000090262.
    ENSMUST00000114632; ENSMUSP00000110279; ENSMUSG00000090262.
    ENSMUST00000154241; ENSMUSP00000115292; ENSMUSG00000090262.
    GeneIDi17527.
    KEGGimmu:17527.
    UCSCiuc008wxf.2. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M36411 mRNA. Translation: AAA39736.1 .
    BC013452 mRNA. Translation: AAH13452.1 .
    CCDSi CCDS19175.1.
    PIRi S29031.
    RefSeqi NP_032648.1. NM_008622.5.
    XP_006503833.1. XM_006503770.1.
    UniGenei Mm.435472.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Proteomic databases

    PaxDbi P19258.
    PRIDEi P19258.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000114631 ; ENSMUSP00000110278 ; ENSMUSG00000090262 .
    ENSMUST00000114632 ; ENSMUSP00000110279 ; ENSMUSG00000090262 .
    ENSMUST00000154241 ; ENSMUSP00000115292 ; ENSMUSG00000090262 .
    GeneIDi 17527.
    KEGGi mmu:17527.
    UCSCi uc008wxf.2. mouse.

    Organism-specific databases

    CTDi 4358.
    MGIi MGI:97138. Mpv17.

    Phylogenomic databases

    eggNOGi NOG44594.
    GeneTreei ENSGT00530000063005.
    HOGENOMi HOG000039675.
    HOVERGENi HBG105417.
    KOi K13348.
    OrthoDBi EOG7TQV25.
    TreeFami TF324070.

    Miscellaneous databases

    NextBioi 292140.
    PROi P19258.
    SOURCEi Search...

    Gene expression databases

    Bgeei P19258.
    CleanExi MM_MPV17.
    Genevestigatori P19258.

    Family and domain databases

    InterProi IPR007248. Mpv17_PMP22.
    [Graphical view ]
    PANTHERi PTHR11266. PTHR11266. 1 hit.
    Pfami PF04117. Mpv17_PMP22. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Transgenic mouse model of kidney disease: insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome."
      Weiher H., Noda T., Gray D.A., Sharpe A.H., Jaenisch R.
      Cell 62:425-434(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: FVB/N.
      Tissue: Kidney.
    3. "The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein producing reactive oxygen species."
      Zwacka R.M., Reuter A., Pfaff E., Moll J., Gorgas K., Karasawa M., Weiher H.
      EMBO J. 13:5129-5134(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: PRELIMINARY SUBCELLULAR LOCATION, FUNCTION.
    4. Cited for: DISRUPTION PHENOTYPE.
    5. "Ultrastructural and physiological defects in the cochlea of the Mpv17 mouse strain. A comparison between young and old adult animals."
      Meyer zum Gottesberge A.M., Felix H., Reuter A., Weiher H.
      Hear. Res. 156:69-80(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISRUPTION PHENOTYPE.

    Entry informationi

    Entry nameiMPV17_MOUSE
    AccessioniPrimary (citable) accession number: P19258
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1990
    Last sequence update: November 1, 1990
    Last modified: October 1, 2014
    This is version 110 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Caution

    Was initially thought to be a peroxisomal protein (PubMed:7957077). However, it was later shown in human that it is a mitochondrial protein (PubMed:16582907 and PubMed:16582910).1 Publication

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3