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P39210 (MPV17_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein Mpv17
Gene names
Name:MPV17
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length176 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein Ref.7 Ref.8.

Tissue specificity

Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart. Ref.8

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8 Ref.9

Sequence similarities

Belongs to the peroxisomal membrane protein PXMP2/4 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 176176Protein Mpv17
PRO_0000218927

Regions

Transmembrane18 – 3821Helical; Potential
Transmembrane53 – 7321Helical; Potential
Transmembrane94 – 11421Helical; Potential
Transmembrane131 – 15121Helical; Potential

Natural variations

Natural variant501R → Q in MTDPS6; may cause protein instability and decay. Ref.8 Ref.9
VAR_026217
Natural variant501R → W in MTDPS6. Ref.8
VAR_026218
Natural variant1661N → K in MTDPS6. Ref.8
VAR_026219

Sequences

Sequence LengthMass (Da)Tools
P39210 [UniParc].

Last modified February 1, 1995. Version 1.
Checksum: 5CD9A46F4498C4AB

FASTA17619,733
        10         20         30         40         50         60 
MALWRAYQRA LAAHPWKVQV LTAGSLMGLG DIISQQLVER RGLQEHQRGR TLTMVSLGCG 

        70         80         90        100        110        120 
FVGPVVGGWY KVLDRFIPGT TKVDALKKML LDQGGFAPCF LGCFLPLVGA LNGLSAQDNW 

       130        140        150        160        170 
AKLQRDYPDA LITNYYLWPA VQLANFYLVP LHYRLAVVQC VAVIWNSYLS WKAHRL 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion."
Spinazzola A., Viscomi C., Fernandez-Vizarra E., Carrara F., D'Adamo P., Calvo S., Marsano R.M., Donnini C., Weiher H., Strisciuglio P., Parini R., Sarzi E., Chan A., Dimauro S., Rotig A., Gasparini P., Ferrero I., Mootha V.K., Tiranti V., Zeviani M.
Nat. Genet. 38:570-575(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MTDPS6 TRP-50; GLN-50 AND LYS-166, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[9]"Navajo neurohepatopathy is caused by a mutation in the MPV17 gene."
Karadimas C.L., Vu T.H., Holve S.A., Chronopoulou P., Quinzii C., Johnsen S.D., Kurth J., Eggers E., Palenzuela L., Tanji K., Bonilla E., De Vivo D.C., DiMauro S., Hirano M.
Am. J. Hum. Genet. 79:544-548(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MTDPS6 GLN-50.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
S68430 expand/collapse EMBL AC list , 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.
CCDSCCDS1748.1.
PIRS45343.
RefSeqNP_002428.1. NM_002437.4.
XP_005264383.1. XM_005264326.1.
UniGeneHs.75659.

3D structure databases

ProteinModelPortalP39210.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110498. 47 interactions.
STRING9606.ENSP00000233545.

Proteomic databases

MaxQBP39210.
PaxDbP39210.
PeptideAtlasP39210.
PRIDEP39210.

Protocols and materials databases

DNASU4358.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000233545; ENSP00000233545; ENSG00000115204.
ENST00000380044; ENSP00000369383; ENSG00000115204.
GeneID4358.
KEGGhsa:4358.
UCSCuc002rjr.3. human.

Organism-specific databases

CTD4358.
GeneCardsGC02M027532.
GeneReviewsMPV17.
HGNCHGNC:7224. MPV17.
MIM137960. gene.
256810. phenotype.
neXtProtNX_P39210.
Orphanet255229. Navajo neurohepatopathy.
PharmGKBPA30929.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG312776.
HOGENOMHOG000039675.
HOVERGENHBG105417.
KOK13348.
PhylomeDBP39210.
TreeFamTF324070.

Gene expression databases

ArrayExpressP39210.
BgeeP39210.
CleanExHS_MPV17.
GenevestigatorP39210.

Family and domain databases

InterProIPR007248. Mpv17_PMP22.
[Graphical view]
PANTHERPTHR11266. PTHR11266. 1 hit.
PfamPF04117. Mpv17_PMP22. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMPV17. human.
GeneWikiMPV17.
GenomeRNAi4358.
NextBio17151.
PROP39210.
SOURCESearch...

Entry information

Entry nameMPV17_HUMAN
AccessionPrimary (citable) accession number: P39210
Secondary accession number(s): D6W555, Q53SY2, Q96B08
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: July 9, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM