Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 158 (12 Aug 2020)
Sequence version 1 (01 Feb 1995)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Protein Mpv17

Gene

MPV17

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis (PubMed:25861990). Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance (PubMed:26760297). May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation (By similarity).By similarity2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei92Determines ion selectivity1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • channel activity Source: UniProtKB

GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
P39210

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-9033241, Peroxisomal protein import

Protein family/group databases

Transport Classification Database

More...
TCDBi
9.B.192.1.1, the mpv17/pmp22 4 tms putative porin (mpv17) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein Mpv17
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MPV17
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000115204.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7224, MPV17

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
137960, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P39210

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei18 – 38HelicalSequence analysisAdd BLAST21
Transmembranei53 – 73HelicalSequence analysisAdd BLAST21
Transmembranei94 – 114HelicalSequence analysisAdd BLAST21
Transmembranei131 – 151HelicalSequence analysisAdd BLAST21

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mitochondrial DNA depletion syndrome 6 (MTDPS6)16 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08222621L → R in MTDPS6; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs976220715Ensembl.1
Natural variantiVAR_08222723A → P in MTDPS6; results in altered ribonucleotide incorporation in mtDNA from patient fibroblasts. 2 Publications1
Natural variantiVAR_08222824G → W in MTDPS6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121909725EnsemblClinVar.1
Natural variantiVAR_08222936Q → P in MTDPS6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs762327729Ensembl.1
Natural variantiVAR_08223141R → W in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs863224072EnsemblClinVar.1
Natural variantiVAR_08223244 – 176Missing in MTDPS6. 1 PublicationAdd BLAST133
Natural variantiVAR_02621750R → Q in MTDPS6; does not completely rescue iridophores loss in zebrafish 'tra' mutants; may cause protein instability and decay. 4 PublicationsCorresponds to variant dbSNP:rs121909721EnsemblClinVar.1
Natural variantiVAR_02621850R → W in MTDPS6. 3 PublicationsCorresponds to variant dbSNP:rs121909723EnsemblClinVar.1
Natural variantiVAR_08223364P → R in MTDPS6. 2 PublicationsCorresponds to variant dbSNP:rs375401970EnsemblClinVar.1
Natural variantiVAR_08223466V → E in MTDPS6; unknown pathological significance. 1 Publication1
Natural variantiVAR_08223569 – 176Missing in MTDPS6. 1 PublicationAdd BLAST108
Natural variantiVAR_08223679 – 81Missing in MTDPS6; unknown pathological significance. 1 Publication3
Natural variantiVAR_07619988K → E in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs267607256EnsemblClinVar.1
Natural variantiVAR_07620088Missing in MTDPS6. 3 Publications1
Natural variantiVAR_07620191Missing in MTDPS6. 2 Publications1
Natural variantiVAR_08223792D → G in MTDPS6. 1 Publication1
Natural variantiVAR_08223893Q → P in MTDPS6; results in altered ribonucleotide incorporation in mtDNA from patient fibroblasts. 2 Publications1
Natural variantiVAR_07620294G → R in MTDPS6. 2 PublicationsCorresponds to variant dbSNP:rs267607257EnsemblClinVar.1
Natural variantiVAR_08223995G → D in MTDPS6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1260392202EnsemblClinVar.1
Natural variantiVAR_07620398P → L in MTDPS6 and CMT2EE; results in incomplete closing of the channel. 9 PublicationsCorresponds to variant dbSNP:rs267607258EnsemblClinVar.1
Natural variantiVAR_08224099 – 176Missing in MTDPS6. 1 PublicationAdd BLAST78
Natural variantiVAR_082241120 – 176Missing in MTDPS6. 1 PublicationAdd BLAST57
Natural variantiVAR_082242136 – 176Missing in MTDPS6. 1 PublicationAdd BLAST41
Natural variantiVAR_082243154R → M in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs886044113EnsemblClinVar.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
Natural variantiVAR_082244170S → F in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs267607260EnsemblClinVar.1
Charcot-Marie-Tooth disease, axonal, 2EE (CMT2EE)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2EE is a slowly progressive, sensorimotor peripheral axonal neuropathy with onset in the first or second decades of life. The disorder primarily affects the lower limbs, sometimes resulting in loss of ambulation, with later onset of upper limb involvement.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08223041R → Q in CMT2EE. 2 PublicationsCorresponds to variant dbSNP:rs140992482EnsemblClinVar.1
Natural variantiVAR_07620398P → L in MTDPS6 and CMT2EE; results in incomplete closing of the channel. 9 PublicationsCorresponds to variant dbSNP:rs267607258EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi80T → A: Does not affect gating properties of the channel. 1 Publication1
Mutagenesisi92D → K: Affects ion selectivity of the channel. 1 Publication1
Mutagenesisi99C → A: Does not affect conductance and gating properties of the channel. 1 Publication1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
4358

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
MPV17

MalaCards human disease database

More...
MalaCardsi
MPV17
MIMi256810, phenotype
618400, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000115204

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
255229, Navajo neurohepatopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30929

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P39210, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MPV17

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002189271 – 176Protein Mpv17Add BLAST176

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P39210

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P39210

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P39210

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P39210

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P39210

PeptideAtlas

More...
PeptideAtlasi
P39210

PRoteomics IDEntifications database

More...
PRIDEi
P39210

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
55316

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
P39210

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P39210

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P39210

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P39210

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000115204, Expressed in left adrenal gland and 125 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P39210, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P39210, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000115204, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
110498, 52 interactors

Protein interaction database and analysis system

More...
IntActi
P39210, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000369383

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P39210, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1944, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160891

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P39210

KEGG Orthology (KO)

More...
KOi
K13348

Database of Orthologous Groups

More...
OrthoDBi
1324608at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P39210

TreeFam database of animal gene trees

More...
TreeFami
TF324070

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR007248, Mpv17_PMP22

The PANTHER Classification System

More...
PANTHERi
PTHR11266, PTHR11266, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04117, Mpv17_PMP22, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 10 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5CD9A46F4498C4AB
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A8MPV4A8MPV4_HUMAN
Protein Mpv17
MPV17
120Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EX18E7EX18_HUMAN
Protein Mpv17
MPV17
191Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J473C9J473_HUMAN
Protein Mpv17
MPV17
115Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B5MCF8B5MCF8_HUMAN
Protein Mpv17
MPV17
171Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B5MC53B5MC53_HUMAN
MpV17 transgene, murine homolog, gl...
MPV17 hCG_23713
170Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y6M5H0Y6M5_HUMAN
Protein Mpv17
MPV17
121Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G5E9F5G5E9F5_HUMAN
MpV17 transgene, murine homolog, gl...
MPV17 hCG_23713
113Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B5MC10B5MC10_HUMAN
MpV17 mitochondrial inner membrane ...
MPV17
99Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WEL3F8WEL3_HUMAN
Protein Mpv17
MPV17
79Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A8MTD3A8MTD3_HUMAN
Protein Mpv17
MPV17
110Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08222621L → R in MTDPS6; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs976220715Ensembl.1
Natural variantiVAR_08222723A → P in MTDPS6; results in altered ribonucleotide incorporation in mtDNA from patient fibroblasts. 2 Publications1
Natural variantiVAR_08222824G → W in MTDPS6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121909725EnsemblClinVar.1
Natural variantiVAR_08222936Q → P in MTDPS6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs762327729Ensembl.1
Natural variantiVAR_08223041R → Q in CMT2EE. 2 PublicationsCorresponds to variant dbSNP:rs140992482EnsemblClinVar.1
Natural variantiVAR_08223141R → W in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs863224072EnsemblClinVar.1
Natural variantiVAR_08223244 – 176Missing in MTDPS6. 1 PublicationAdd BLAST133
Natural variantiVAR_02621750R → Q in MTDPS6; does not completely rescue iridophores loss in zebrafish 'tra' mutants; may cause protein instability and decay. 4 PublicationsCorresponds to variant dbSNP:rs121909721EnsemblClinVar.1
Natural variantiVAR_02621850R → W in MTDPS6. 3 PublicationsCorresponds to variant dbSNP:rs121909723EnsemblClinVar.1
Natural variantiVAR_08223364P → R in MTDPS6. 2 PublicationsCorresponds to variant dbSNP:rs375401970EnsemblClinVar.1
Natural variantiVAR_08223466V → E in MTDPS6; unknown pathological significance. 1 Publication1
Natural variantiVAR_08223569 – 176Missing in MTDPS6. 1 PublicationAdd BLAST108
Natural variantiVAR_08223679 – 81Missing in MTDPS6; unknown pathological significance. 1 Publication3
Natural variantiVAR_07619988K → E in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs267607256EnsemblClinVar.1
Natural variantiVAR_07620088Missing in MTDPS6. 3 Publications1
Natural variantiVAR_07620191Missing in MTDPS6. 2 Publications1
Natural variantiVAR_08223792D → G in MTDPS6. 1 Publication1
Natural variantiVAR_08223893Q → P in MTDPS6; results in altered ribonucleotide incorporation in mtDNA from patient fibroblasts. 2 Publications1
Natural variantiVAR_07620294G → R in MTDPS6. 2 PublicationsCorresponds to variant dbSNP:rs267607257EnsemblClinVar.1
Natural variantiVAR_08223995G → D in MTDPS6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1260392202EnsemblClinVar.1
Natural variantiVAR_07620398P → L in MTDPS6 and CMT2EE; results in incomplete closing of the channel. 9 PublicationsCorresponds to variant dbSNP:rs267607258EnsemblClinVar.1
Natural variantiVAR_08224099 – 176Missing in MTDPS6. 1 PublicationAdd BLAST78
Natural variantiVAR_082241120 – 176Missing in MTDPS6. 1 PublicationAdd BLAST57
Natural variantiVAR_082242136 – 176Missing in MTDPS6. 1 PublicationAdd BLAST41
Natural variantiVAR_082243154R → M in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs886044113EnsemblClinVar.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
Natural variantiVAR_082244170S → F in MTDPS6. 1 PublicationCorresponds to variant dbSNP:rs267607260EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
S68430 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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1748.1

Protein sequence database of the Protein Information Resource

More...
PIRi
S45343

NCBI Reference Sequences

More...
RefSeqi
NP_002428.1, NM_002437.4
XP_005264383.1, XM_005264326.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000233545; ENSP00000233545; ENSG00000115204
ENST00000380044; ENSP00000369383; ENSG00000115204

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4358

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4358

UCSC genome browser

More...
UCSCi
uc002rjr.3, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S68430 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

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi110498, 52 interactors
IntActiP39210, 2 interactors
STRINGi9606.ENSP00000369383

Protein family/group databases

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

PTM databases

iPTMnetiP39210
PhosphoSitePlusiP39210
SwissPalmiP39210

Polymorphism and mutation databases

BioMutaiMPV17

Proteomic databases

EPDiP39210
jPOSTiP39210
MassIVEiP39210
MaxQBiP39210
PaxDbiP39210
PeptideAtlasiP39210
PRIDEiP39210
ProteomicsDBi55316
TopDownProteomicsiP39210

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
28381, 168 antibodies

The DNASU plasmid repository

More...
DNASUi
4358

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4358
DisGeNETi4358
EuPathDBiHostDB:ENSG00000115204.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MPV17
GeneReviewsiMPV17
HGNCiHGNC:7224, MPV17
HPAiENSG00000115204, Low tissue specificity
MalaCardsiMPV17
MIMi137960, gene
256810, phenotype
618400, phenotype
neXtProtiNX_P39210
OpenTargetsiENSG00000115204
Orphaneti255229, Navajo neurohepatopathy
PharmGKBiPA30929

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1944, Eukaryota
GeneTreeiENSGT00940000160891
InParanoidiP39210
KOiK13348
OrthoDBi1324608at2759
PhylomeDBiP39210
TreeFamiTF324070

Enzyme and pathway databases

PathwayCommonsiP39210
ReactomeiR-HSA-9033241, Peroxisomal protein import

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
4358, 2 hits in 873 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
MPV17, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
MPV17

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
4358
PharosiP39210, Tbio

Protein Ontology

More...
PROi
PR:P39210
RNActiP39210, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000115204, Expressed in left adrenal gland and 125 other tissues
ExpressionAtlasiP39210, baseline and differential
GenevisibleiP39210, HS

Family and domain databases

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMPV17_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P39210
Secondary accession number(s): D6W555, Q53SY2, Q96B08
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: August 12, 2020
This is version 158 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again