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Protein

Protein Mpv17

Gene

MPV17

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

  • 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
  • regulation of reactive oxygen species metabolic process Source: UniProtKB

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

HGNCiHGNC:7224. MPV17.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial inner membrane Source: UniProtKB
  • mitochondrion Source: MGI
  • peroxisome Source: UniProtKB

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:rs121909721Ensembl.1
Natural variantiVAR_02621850R → W in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs121909723Ensembl.1
Natural variantiVAR_07619988K → E in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs267607256Ensembl.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:rs267607257Ensembl.1
Natural variantiVAR_07620398P → L in MTDPS6. 2 PublicationsCorresponds to variant dbSNP:rs267607258Ensembl.1
Natural variantiVAR_076204162A → D in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs267607259Ensembl.1
Natural variantiVAR_026219166N → K in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs121909722Ensembl.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:rs121909721Ensembl.1
Natural variantiVAR_02621850R → W in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs121909723Ensembl.1
Natural variantiVAR_07619988K → E in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs267607256Ensembl.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:rs267607257Ensembl.1
Natural variantiVAR_07620398P → L in MTDPS6. 2 PublicationsCorresponds to variant dbSNP:rs267607258Ensembl.1
Natural variantiVAR_076204162A → D in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs267607259Ensembl.1
Natural variantiVAR_026219166N → K in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs121909722Ensembl.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: August 30, 2017
This is version 139 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