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P39210

- MPV17_HUMAN

UniProt

P39210 - MPV17_HUMAN

Protein

Protein Mpv17

Gene

MPV17

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein 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.

    GO - Biological processi

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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein Mpv17
    Gene namesi
    Name:MPV17
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:7224. MPV17.

    Subcellular locationi

    Mitochondrion inner membrane 2 Publications; Multi-pass membrane protein 2 Publications

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810]: A disease due to mitochondrial dysfunction. It is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, peripheral neuropathy, corneal scarring, acral ulceration and osteomyelitis leading to autoamputation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti50 – 501R → Q in MTDPS6; may cause protein instability and decay. 2 Publications
    VAR_026217
    Natural varianti50 – 501R → W in MTDPS6. 1 Publication
    VAR_026218
    Natural varianti166 – 1661N → K in MTDPS6. 1 Publication
    VAR_026219

    Keywords - Diseasei

    Disease mutation, Neuropathy

    Organism-specific databases

    MIMi256810. phenotype.
    Orphaneti255229. Navajo neurohepatopathy.
    PharmGKBiPA30929.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 176176Protein Mpv17PRO_0000218927Add
    BLAST

    Proteomic databases

    MaxQBiP39210.
    PaxDbiP39210.
    PeptideAtlasiP39210.
    PRIDEiP39210.

    Expressioni

    Tissue specificityi

    Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart.1 Publication

    Gene expression databases

    ArrayExpressiP39210.
    BgeeiP39210.
    CleanExiHS_MPV17.
    GenevestigatoriP39210.

    Interactioni

    Protein-protein interaction databases

    BioGridi110498. 47 interactions.
    STRINGi9606.ENSP00000233545.

    Structurei

    3D structure databases

    ProteinModelPortaliP39210.
    ModBaseiSearch...
    MobiDBiSearch...

    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

    eggNOGiNOG312776.
    HOGENOMiHOG000039675.
    HOVERGENiHBG105417.
    KOiK13348.
    PhylomeDBiP39210.
    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.

    P39210-1 [UniParc]FASTAAdd to Basket

    « Hide

    MALWRAYQRA LAAHPWKVQV LTAGSLMGLG DIISQQLVER RGLQEHQRGR    50
    TLTMVSLGCG FVGPVVGGWY KVLDRFIPGT TKVDALKKML LDQGGFAPCF 100
    LGCFLPLVGA LNGLSAQDNW AKLQRDYPDA LITNYYLWPA VQLANFYLVP 150
    LHYRLAVVQC VAVIWNSYLS WKAHRL 176
    Length:176
    Mass (Da):19,733
    Last modified:February 1, 1995 - v1
    Checksum:i5CD9A46F4498C4AB
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti50 – 501R → Q in MTDPS6; may cause protein instability and decay. 2 Publications
    VAR_026217
    Natural varianti50 – 501R → W in MTDPS6. 1 Publication
    VAR_026218
    Natural varianti166 – 1661N → K in MTDPS6. 1 Publication
    VAR_026219

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S68430
    , S68417, S68418, S68419, S68420, S68421, S68422 Genomic DNA. Translation: AAD14014.1.
    X76538 mRNA. Translation: CAA54047.1.
    HQ205986 Genomic DNA. Translation: ADP91854.1.
    HQ205987 Genomic DNA. Translation: ADP91855.1.
    HQ205988 Genomic DNA. Translation: ADP91856.1.
    HQ205989 Genomic DNA. Translation: ADP91857.1.
    HQ205990 Genomic DNA. Translation: ADP91858.1.
    HQ205991 Genomic DNA. Translation: ADP91859.1.
    HQ205992 Genomic DNA. Translation: ADP91860.1.
    HQ205993 Genomic DNA. Translation: ADP91861.1.
    HQ205994 Genomic DNA. Translation: ADP91862.1.
    HQ205995 Genomic DNA. Translation: ADP91863.1.
    HQ205996 Genomic DNA. Translation: ADP91864.1.
    HQ205997 Genomic DNA. Translation: ADP91865.1.
    HQ205998 Genomic DNA. Translation: ADP91866.1.
    HQ205999 Genomic DNA. Translation: ADP91867.1.
    HQ206000 Genomic DNA. Translation: ADP91868.1.
    HQ206001 Genomic DNA. Translation: ADP91869.1.
    HQ206002 Genomic DNA. Translation: ADP91870.1.
    HQ206003 Genomic DNA. Translation: ADP91871.1.
    HQ206004 Genomic DNA. Translation: ADP91872.1.
    HQ206005 Genomic DNA. Translation: ADP91873.1.
    HQ206006 Genomic DNA. Translation: ADP91874.1.
    HQ206007 Genomic DNA. Translation: ADP91875.1.
    HQ206008 Genomic DNA. Translation: ADP91876.1.
    HQ206009 Genomic DNA. Translation: ADP91877.1.
    HQ206010 Genomic DNA. Translation: ADP91878.1.
    HQ206011 Genomic DNA. Translation: ADP91879.1.
    HQ206012 Genomic DNA. Translation: ADP91880.1.
    HQ206013 Genomic DNA. Translation: ADP91881.1.
    HQ206014 Genomic DNA. Translation: ADP91882.1.
    HQ206015 Genomic DNA. Translation: ADP91883.1.
    HQ206016 Genomic DNA. Translation: ADP91884.1.
    HQ206017 Genomic DNA. Translation: ADP91885.1.
    HQ206018 Genomic DNA. Translation: ADP91886.1.
    HQ206019 Genomic DNA. Translation: ADP91887.1.
    HQ206020 Genomic DNA. Translation: ADP91888.1.
    HQ206021 Genomic DNA. Translation: ADP91889.1.
    HQ206022 Genomic DNA. Translation: ADP91890.1.
    HQ206023 Genomic DNA. Translation: ADP91891.1.
    HQ206024 Genomic DNA. Translation: ADP91892.1.
    HQ206025 Genomic DNA. Translation: ADP91893.1.
    AC013413 Genomic DNA. Translation: AAY24298.1.
    CH471053 Genomic DNA. Translation: EAX00600.1.
    CH471053 Genomic DNA. Translation: EAX00602.1.
    BC001115 mRNA. Translation: AAH01115.1.
    BC016289 mRNA. Translation: AAH16289.2.
    CCDSiCCDS1748.1.
    PIRiS45343.
    RefSeqiNP_002428.1. NM_002437.4.
    XP_005264383.1. XM_005264326.1.
    UniGeneiHs.75659.

    Genome annotation databases

    EnsembliENST00000233545; ENSP00000233545; ENSG00000115204.
    ENST00000380044; ENSP00000369383; ENSG00000115204.
    GeneIDi4358.
    KEGGihsa:4358.
    UCSCiuc002rjr.3. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S68430
    , S68417 , S68418 , S68419 , S68420 , S68421 , S68422 Genomic DNA. Translation: AAD14014.1 .
    X76538 mRNA. Translation: CAA54047.1 .
    HQ205986 Genomic DNA. Translation: ADP91854.1 .
    HQ205987 Genomic DNA. Translation: ADP91855.1 .
    HQ205988 Genomic DNA. Translation: ADP91856.1 .
    HQ205989 Genomic DNA. Translation: ADP91857.1 .
    HQ205990 Genomic DNA. Translation: ADP91858.1 .
    HQ205991 Genomic DNA. Translation: ADP91859.1 .
    HQ205992 Genomic DNA. Translation: ADP91860.1 .
    HQ205993 Genomic DNA. Translation: ADP91861.1 .
    HQ205994 Genomic DNA. Translation: ADP91862.1 .
    HQ205995 Genomic DNA. Translation: ADP91863.1 .
    HQ205996 Genomic DNA. Translation: ADP91864.1 .
    HQ205997 Genomic DNA. Translation: ADP91865.1 .
    HQ205998 Genomic DNA. Translation: ADP91866.1 .
    HQ205999 Genomic DNA. Translation: ADP91867.1 .
    HQ206000 Genomic DNA. Translation: ADP91868.1 .
    HQ206001 Genomic DNA. Translation: ADP91869.1 .
    HQ206002 Genomic DNA. Translation: ADP91870.1 .
    HQ206003 Genomic DNA. Translation: ADP91871.1 .
    HQ206004 Genomic DNA. Translation: ADP91872.1 .
    HQ206005 Genomic DNA. Translation: ADP91873.1 .
    HQ206006 Genomic DNA. Translation: ADP91874.1 .
    HQ206007 Genomic DNA. Translation: ADP91875.1 .
    HQ206008 Genomic DNA. Translation: ADP91876.1 .
    HQ206009 Genomic DNA. Translation: ADP91877.1 .
    HQ206010 Genomic DNA. Translation: ADP91878.1 .
    HQ206011 Genomic DNA. Translation: ADP91879.1 .
    HQ206012 Genomic DNA. Translation: ADP91880.1 .
    HQ206013 Genomic DNA. Translation: ADP91881.1 .
    HQ206014 Genomic DNA. Translation: ADP91882.1 .
    HQ206015 Genomic DNA. Translation: ADP91883.1 .
    HQ206016 Genomic DNA. Translation: ADP91884.1 .
    HQ206017 Genomic DNA. Translation: ADP91885.1 .
    HQ206018 Genomic DNA. Translation: ADP91886.1 .
    HQ206019 Genomic DNA. Translation: ADP91887.1 .
    HQ206020 Genomic DNA. Translation: ADP91888.1 .
    HQ206021 Genomic DNA. Translation: ADP91889.1 .
    HQ206022 Genomic DNA. Translation: ADP91890.1 .
    HQ206023 Genomic DNA. Translation: ADP91891.1 .
    HQ206024 Genomic DNA. Translation: ADP91892.1 .
    HQ206025 Genomic DNA. Translation: ADP91893.1 .
    AC013413 Genomic DNA. Translation: AAY24298.1 .
    CH471053 Genomic DNA. Translation: EAX00600.1 .
    CH471053 Genomic DNA. Translation: EAX00602.1 .
    BC001115 mRNA. Translation: AAH01115.1 .
    BC016289 mRNA. Translation: AAH16289.2 .
    CCDSi CCDS1748.1.
    PIRi S45343.
    RefSeqi NP_002428.1. NM_002437.4.
    XP_005264383.1. XM_005264326.1.
    UniGenei Hs.75659.

    3D structure databases

    ProteinModelPortali P39210.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110498. 47 interactions.
    STRINGi 9606.ENSP00000233545.

    Proteomic databases

    MaxQBi P39210.
    PaxDbi P39210.
    PeptideAtlasi P39210.
    PRIDEi P39210.

    Protocols and materials databases

    DNASUi 4358.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000233545 ; ENSP00000233545 ; ENSG00000115204 .
    ENST00000380044 ; ENSP00000369383 ; ENSG00000115204 .
    GeneIDi 4358.
    KEGGi hsa:4358.
    UCSCi uc002rjr.3. human.

    Organism-specific databases

    CTDi 4358.
    GeneCardsi GC02M027532.
    GeneReviewsi MPV17.
    HGNCi HGNC:7224. MPV17.
    MIMi 137960. gene.
    256810. phenotype.
    neXtProti NX_P39210.
    Orphaneti 255229. Navajo neurohepatopathy.
    PharmGKBi PA30929.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG312776.
    HOGENOMi HOG000039675.
    HOVERGENi HBG105417.
    KOi K13348.
    PhylomeDBi P39210.
    TreeFami TF324070.

    Miscellaneous databases

    ChiTaRSi MPV17. human.
    GeneWikii MPV17.
    GenomeRNAii 4358.
    NextBioi 17151.
    PROi P39210.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P39210.
    Bgeei P39210.
    CleanExi HS_MPV17.
    Genevestigatori P39210.

    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. "The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization."
      Karasawa M., Zwacka R.M., Reuter A., Fink T., Hsieh C.L., Lichter P., Francke U., Weiher H.
      Hum. Mol. Genet. 2:1829-1834(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
      Tissue: Liver.
    2. "Glomerular sclerosis in transgenic mice: the Mpv-17 gene and its human homologue."
      Weiher H.
      Adv. Nephrol. Necker Hosp. 22:37-42(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing."
      Wang W., Shen P., Thiyagarajan S., Lin S., Palm C., Horvath R., Klopstock T., Cutler D., Pique L., Schrijver I., Davis R.W., Mindrinos M., Speed T.P., Scharfe C.
      Nucleic Acids Res. 39:44-58(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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].
      Tissue: Skin.
    7. "Systematic identification of human mitochondrial disease genes through integrative genomics."
      Calvo S., Jain M., Xie X., Sheth S.A., Chang B., Goldberger O.A., Spinazzola A., Zeviani M., Carr S.A., Mootha V.K.
      Nat. Genet. 38:576-582(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, INVOLVEMENT IN MTDPS6.
    8. Cited for: VARIANTS MTDPS6 TRP-50; GLN-50 AND LYS-166, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    9. Cited for: VARIANT MTDPS6 GLN-50.

    Entry informationi

    Entry nameiMPV17_HUMAN
    AccessioniPrimary (citable) accession number: P39210
    Secondary accession number(s): D6W555, Q53SY2, Q96B08
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1995
    Last sequence update: February 1, 1995
    Last modified: October 1, 2014
    This is version 118 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3