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Protein

Protein Mpv17

Gene

MPV17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • cellular response to reactive oxygen species Source: UniProtKB
  • glomerular basement membrane development Source: UniProtKB
  • homeostatic process Source: UniProtKB
  • inner ear development Source: UniProtKB
  • mitochondrial genome maintenance Source: UniProtKB
  • protein targeting to peroxisome Source: Reactome
  • regulation of reactive oxygen species metabolic process Source: UniProtKB

Enzyme and pathway databases

ReactomeiR-HSA-9033241 Peroxisomal protein import

Protein family/group databases

TCDBi9.B.192.1.1 the mpv17/pmp22 4 tms putative porin (mpv17) family

Names & Taxonomyi

Protein namesi
Recommended name:
Protein Mpv17
Gene namesi
Name:MPV17
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000115204.14
HGNCiHGNC:7224 MPV17
MIMi137960 gene
neXtProtiNX_P39210

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei18 – 38HelicalSequence analysisAdd BLAST21
Transmembranei53 – 73HelicalSequence analysisAdd BLAST21
Transmembranei94 – 114HelicalSequence analysisAdd BLAST21
Transmembranei131 – 151HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial DNA depletion syndrome 6 (MTDPS6)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:256810
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02621750R → Q in MTDPS6; may cause protein instability and decay. 3 PublicationsCorresponds to variant dbSNP:rs121909721EnsemblClinVar.1
Natural variantiVAR_02621850R → W in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs121909723EnsemblClinVar.1
Natural variantiVAR_07619988K → E in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs267607256EnsemblClinVar.1
Natural variantiVAR_07620088Missing in MTDPS6. 1 Publication1
Natural variantiVAR_07620191Missing in MTDPS6. 1 Publication1
Natural variantiVAR_07620294G → R in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs267607257EnsemblClinVar.1
Natural variantiVAR_07620398P → L in MTDPS6. 2 PublicationsCorresponds to variant dbSNP:rs267607258EnsemblClinVar.1
Natural variantiVAR_076204162A → D in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs267607259EnsemblClinVar.1
Natural variantiVAR_026219166N → K in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs121909722EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neuropathy, Primary mitochondrial disease

Organism-specific databases

DisGeNETi4358
GeneReviewsiMPV17
MalaCardsiMPV17
MIMi256810 phenotype
OpenTargetsiENSG00000115204
Orphaneti255229 Navajo neurohepatopathy
PharmGKBiPA30929

Polymorphism and mutation databases

BioMutaiMPV17

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002189271 – 176Protein Mpv17Add BLAST176

Proteomic databases

EPDiP39210
MaxQBiP39210
PaxDbiP39210
PeptideAtlasiP39210
PRIDEiP39210
TopDownProteomicsiP39210

PTM databases

iPTMnetiP39210
PhosphoSitePlusiP39210
SwissPalmiP39210

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000115204
CleanExiHS_MPV17
ExpressionAtlasiP39210 baseline and differential
GenevisibleiP39210 HS

Interactioni

Protein-protein interaction databases

BioGridi110498, 50 interactors
IntActiP39210, 1 interactor
STRINGi9606.ENSP00000233545

Structurei

3D structure databases

ProteinModelPortaliP39210
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1944 Eukaryota
ENOG4111SYH LUCA
GeneTreeiENSGT00530000063005
HOGENOMiHOG000039675
HOVERGENiHBG105417
InParanoidiP39210
KOiK13348
PhylomeDBiP39210
TreeFamiTF324070

Family and domain databases

InterProiView protein in InterPro
IPR007248 Mpv17_PMP22
PANTHERiPTHR11266 PTHR11266, 1 hit
PfamiView protein in Pfam
PF04117 Mpv17_PMP22, 1 hit

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_02621750R → Q in MTDPS6; may cause protein instability and decay. 3 PublicationsCorresponds to variant dbSNP:rs121909721EnsemblClinVar.1
Natural variantiVAR_02621850R → W in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs121909723EnsemblClinVar.1
Natural variantiVAR_07619988K → E in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs267607256EnsemblClinVar.1
Natural variantiVAR_07620088Missing in MTDPS6. 1 Publication1
Natural variantiVAR_07620191Missing in MTDPS6. 1 Publication1
Natural variantiVAR_07620294G → R in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs267607257EnsemblClinVar.1
Natural variantiVAR_07620398P → L in MTDPS6. 2 PublicationsCorresponds to variant dbSNP:rs267607258EnsemblClinVar.1
Natural variantiVAR_076204162A → D in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs267607259EnsemblClinVar.1
Natural variantiVAR_026219166N → K in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs121909722EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005264326.3
UniGeneiHs.75659

Genome annotation databases

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

Similar proteinsi

Entry informationi

Entry nameiMPV17_HUMAN
AccessioniPrimary (citable) accession number: P39210
Secondary accession number(s): D6W555, Q53SY2, Q96B08
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: May 23, 2018
This is version 141 of the entry and version 1 of the sequence. See 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

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