InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MPV17

Summary

InnateDB Protein

IDBP-38269.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MPV17

Protein Name

MpV17 mitochondrial inner membrane protein

Synonyms

MTDPS6; SYM1;

Species

Homo sapiens

Ensembl Protein

ENSP00000233545

InnateDB Gene

IDBG-38263 (MPV17)

Protein Structure

UniProt Annotation

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 Localization

Mitochondrion inner membrane {ECO:0000269PubMed:16582907, ECO:0000269PubMed:16582910}; Multi- pass membrane protein {ECO:0000269PubMed:16582907, ECO:0000269PubMed:16582910}.

Disease Associations

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. {ECO:0000269PubMed:16582907, ECO:0000269PubMed:16582910, ECO:0000269PubMed:16909392}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart. {ECO:0000269PubMed:16582910}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 48 experimentally validated interaction(s) in this database.

Experimentally validated
Total	48 [view]
Protein-Protein	47 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function

Biological Process

GO:0000002	mitochondrial genome maintenance
GO:0032836	glomerular basement membrane development
GO:0034614	cellular response to reactive oxygen species
GO:0042592	homeostatic process
GO:0048839	inner ear development
GO:2000377	regulation of reactive oxygen species metabolic process