Seroatlas · Human Serome Atlas

MPV17

Mitochondrial inner membrane protein Mpv17

Also known as: MPV17_HUMAN, SYM1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P39210
Gene: MPV17
Ensembl: ENSG00000115204
Chromosome: 2
Canonical length: 176 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

176 residues, UniProt reviewed canonical sequence.

>P39210|MPV17
     1  MALWRAYQRA LAAHPWKVQV LTAGSLMGLG DIISQQLVER RGLQEHQRGR TLTMVSLGCG
    61  FVGPVVGGWY KVLDRFIPGT TKVDALKKML LDQGGFAPCF LGCFLPLVGA LNGLSAQDNW
   121  AKLQRDYPDA LITNYYLWPA VQLANFYLVP LHYRLAVVQC VAVIWNSYLS WKAHRL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MPV17 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 4
Mean surface accessibility (rSASA): 0.29
Highest tissue expression: 88 nTPM

Expression across tissuesHPA

Tissue

choroid plexus: 88 nTPM
adrenal gland: 86 nTPM
heart muscle: 73 nTPM
parathyroid gland: 66 nTPM
smooth muscle: 54 nTPM
spinal cord: 53 nTPM

Single-cell type

hofbauer cells: 201 nCPM
myonuclei: 109 nCPM
decidual stromal cells: 95 nCPM
migrating cytotrophoblasts: 78 nCPM
late spermatids: 76 nCPM
extravillous trophoblasts: 74 nCPM

Immune cell

myeloid DC: 121 nTPM
classical monocyte: 94 nTPM
total PBMC: 92 nTPM
plasmacytoid DC: 88 nTPM
memory B-cell: 85 nTPM
non-classical monocyte: 82 nTPM

Brain region

white matter: 55 nTPM
thalamus: 52 nTPM
medulla oblongata: 48 nTPM
choroid plexus: 48 nTPM
hypothalamus: 48 nTPM
cerebellum: 47 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MPV17.

Disease | AllUniProt

Conditions MPV17 is implicated in, by any mechanism.

Mitochondrial DNA depletion syndrome 6 (MTDPS6) MIM:256810
Charcot-Marie-Tooth disease, axonal, type 2EE (CMT2EE) MIM:618400

Disease | GeneticClinVar

91 pathogenic / likely-pathogenic of 378 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Charcot-Marie-Tooth disease, axonal, type 2EE
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome, hepatocerebral form
Mitochondrial DNA depletion syndrome
MPV17-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.79
gnomAD pLI: 0
gnomAD missense Z: 0.24
DepMap mean gene effect: -0.12
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

channel activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MPV17 as an antibody target. Whether an autoantibody or antibody against MPV17 could matter depends on whether native MPV17 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MPV17 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MPV17 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...