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P39210

- MPV17_HUMAN

UniProt

P39210 - MPV17_HUMAN

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Protein

Protein Mpv17

Gene

MPV17

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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiP39210.
CleanExiHS_MPV17.
ExpressionAtlasiP39210. baseline and differential.
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.
GeneTreeiENSGT00530000063005.
HOGENOMiHOG000039675.
HOVERGENiHBG105417.
InParanoidiP39210.
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

        10         20         30         40         50
MALWRAYQRA LAAHPWKVQV LTAGSLMGLG DIISQQLVER RGLQEHQRGR
60 70 80 90 100
TLTMVSLGCG FVGPVVGGWY KVLDRFIPGT TKVDALKKML LDQGGFAPCF
110 120 130 140 150
LGCFLPLVGA LNGLSAQDNW AKLQRDYPDA LITNYYLWPA VQLANFYLVP
160 170
LHYRLAVVQC VAVIWNSYLS WKAHRL
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.
GeneTreei ENSGT00530000063005.
HOGENOMi HOG000039675.
HOVERGENi HBG105417.
InParanoidi P39210.
KOi K13348.
PhylomeDBi P39210.
TreeFami TF324070.

Miscellaneous databases

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

Gene expression databases

Bgeei P39210.
CleanExi HS_MPV17.
ExpressionAtlasi P39210. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 119 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