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Aliases for MPV17 Gene

Aliases for MPV17 Gene

  • MPV17, Mitochondrial Inner Membrane Protein 2 3
  • MpV17 Mitochondrial Inner Membrane Protein 3 5
  • Mpv17, Human Homolog Of Glomerulosclerosis And Nephrotic Syndrome 3
  • MpV17 Transgene, Murine Homolog, Glomerulosclerosis 2
  • Glomerulosclerosis 2
  • MTDPS6 3
  • SYM1 3

External Ids for MPV17 Gene

Previous GeneCards Identifiers for MPV17 Gene

  • GC02M027453
  • GC02M027624
  • GC02M027506
  • GC02M027444
  • GC02M027385
  • GC02M027532

Summaries for MPV17 Gene

Entrez Gene Summary for MPV17 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]

GeneCards Summary for MPV17 Gene

MPV17 (MPV17, Mitochondrial Inner Membrane Protein) is a Protein Coding gene. Diseases associated with MPV17 include mitochondrial dna depletion syndrome 6 and mpv17-related hepatocerebral mitochondrial dna depletion syndrome. Among its related pathways are Peroxisome. An important paralog of this gene is MPV17L2.

UniProtKB/Swiss-Prot for MPV17 Gene

  • Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance.

Gene Wiki entry for MPV17 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPV17 Gene

Genomics for MPV17 Gene

Regulatory Elements for MPV17 Gene

Genomic Location for MPV17 Gene

Chromosome:
2
Start:
27,309,490 bp from pter
End:
27,325,680 bp from pter
Size:
16,191 bases
Orientation:
Minus strand

Genomic View for MPV17 Gene

Genes around MPV17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPV17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPV17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPV17 Gene

Proteins for MPV17 Gene

  • Protein details for MPV17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P39210-MPV17_HUMAN
    Recommended name:
    Protein Mpv17
    Protein Accession:
    P39210
    Secondary Accessions:
    • D6W555
    • Q53SY2
    • Q96B08

    Protein attributes for MPV17 Gene

    Size:
    176 amino acids
    Molecular mass:
    19733 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MPV17 Gene

Proteomics data for MPV17 Gene at MOPED

Post-translational modifications for MPV17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for MPV17 Gene

Domains & Families for MPV17 Gene

Protein Domains for MPV17 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MPV17 Gene

Graphical View of Domain Structure for InterPro Entry

P39210

UniProtKB/Swiss-Prot:

MPV17_HUMAN :
  • Belongs to the peroxisomal membrane protein PXMP2/4 family.
Family:
  • Belongs to the peroxisomal membrane protein PXMP2/4 family.
genes like me logo Genes that share domains with MPV17: view

No data available for Gene Families for MPV17 Gene

Function for MPV17 Gene

Molecular function for MPV17 Gene

GENATLAS Biochemistry:
mouse glomerulosclerosis gene Mpv17,homolog,peroxisomal,located in the 5utr region of the UCN gene
UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with MPV17: view

Human Phenotype Ontology for MPV17 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for MPV17 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for MPV17 Gene

Localization for MPV17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPV17 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MPV17 Gene COMPARTMENTS Subcellular localization image for MPV17 gene
Compartment Confidence
mitochondrion 5
peroxisome 5
cytosol 2
extracellular 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MPV17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 16582910
genes like me logo Genes that share ontologies with MPV17: view

Pathways & Interactions for MPV17 Gene

SuperPathways for MPV17 Gene

Superpath Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with MPV17: view

Pathways by source for MPV17 Gene

1 KEGG pathway for MPV17 Gene

Interacting Proteins for MPV17 Gene

Gene Ontology (GO) - Biological Process for MPV17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042592 homeostatic process IMP 16582910
GO:2000377 regulation of reactive oxygen species metabolic process ISS --
genes like me logo Genes that share ontologies with MPV17: view

No data available for SIGNOR curated interactions for MPV17 Gene

Drugs & Compounds for MPV17 Gene

(1) Additional Compounds for MPV17 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MPV17: view

Transcripts for MPV17 Gene

Unigene Clusters for MPV17 Gene

MpV17 mitochondrial inner membrane protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MPV17 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d · 12e · 12f
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - - - - - - - - -
SP6: - - - - - - - - - -
SP7: - - - - - -
SP8: - - - - - - - - - -
SP9: - - - - - -
SP10: - - - - - - - - - - -
SP11: - - - -
SP12: -
SP13: - -
SP14: -
SP15: -

Relevant External Links for MPV17 Gene

GeneLoc Exon Structure for
MPV17
ECgene alternative splicing isoforms for
MPV17

Expression for MPV17 Gene

mRNA expression in normal human tissues for MPV17 Gene

Protein differential expression in normal tissues from HIPED for MPV17 Gene

This gene is overexpressed in Frontal cortex (6.5) and Monocytes (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MPV17 Gene



SOURCE GeneReport for Unigene cluster for MPV17 Gene Hs.75659

mRNA Expression by UniProt/SwissProt for MPV17 Gene

P39210-MPV17_HUMAN
Tissue specificity: Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart.
genes like me logo Genes that share expression patterns with MPV17: view

Protein tissue co-expression partners for MPV17 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MPV17 Gene

Orthologs for MPV17 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MPV17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MPV17 36
  • 91 (a)
OneToOne
MPV17 35
  • 99.57 (n)
  • 99.35 (a)
cow
(Bos Taurus)
Mammalia MPV17 36
  • 95 (a)
OneToOne
MPV17 35
  • 90.53 (n)
  • 94.89 (a)
dog
(Canis familiaris)
Mammalia MPV17 35
  • 90.72 (n)
  • 92.05 (a)
MPV17 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mpv17 35
  • 89.77 (n)
  • 92.05 (a)
Mpv17 36
  • 92 (a)
OneToOne
Mpv17 16
oppossum
(Monodelphis domestica)
Mammalia MPV17 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MPV17 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mpv17l 35
  • 90.34 (n)
  • 93.18 (a)
chicken
(Gallus gallus)
Aves MPV17 36
  • 66 (a)
OneToOne
MPV17 35
  • 72.12 (n)
  • 68.42 (a)
zebrafish
(Danio rerio)
Actinopterygii mpv17 36
  • 68 (a)
OneToOne
-- 35
mpv17 35
  • 66.09 (n)
  • 69.54 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001778 35
  • 53.45 (n)
  • 47.7 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11077 36
  • 36 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T18D3.9 35
  • 42.83 (n)
  • 33.94 (a)
T18D3.9 36
  • 31 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR120C 35
  • 43.33 (n)
  • 31.76 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SYM1 35
  • 42.2 (n)
  • 31.79 (a)
SYM1 36
  • 27 (a)
OneToMany
SYM1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F22924g 35
  • 40.56 (n)
  • 32.53 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G24570 35
  • 47.06 (n)
  • 38.24 (a)
rice
(Oryza sativa)
Liliopsida Os01g0228300 35
  • 47.62 (n)
  • 41.67 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02117 35
  • 51.03 (n)
  • 43.21 (a)
Species with no ortholog for MPV17:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MPV17 Gene

ENSEMBL:
Gene Tree for MPV17 (if available)
TreeFam:
Gene Tree for MPV17 (if available)

Paralogs for MPV17 Gene

Paralogs for MPV17 Gene

genes like me logo Genes that share paralogs with MPV17: view

Variants for MPV17 Gene

Sequence variations from dbSNP and Humsavar for MPV17 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_026217 Mitochondrial DNA depletion syndrome 6 (MTDPS6)
VAR_026218 Mitochondrial DNA depletion syndrome 6 (MTDPS6)
VAR_026219 Mitochondrial DNA depletion syndrome 6 (MTDPS6)
rs1975384 -- 27,319,174(-) TGGAG(A/G)GAAAG intron-variant
rs1975385 -- 27,319,063(-) AAGTg(G/T)ctggg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MPV17 Gene

Variant ID Type Subtype PubMed ID
nsv873754 CNV Loss 21882294
nsv833614 CNV Gain 17160897
nsv2654 CNV Insertion 18451855

Variation tolerance for MPV17 Gene

Residual Variation Intolerance Score: 73.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.69; 14.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MPV17 Gene

HapMap Linkage Disequilibrium report
MPV17
Human Gene Mutation Database (HGMD)
MPV17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPV17 Gene

Disorders for MPV17 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MPV17 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MPV17 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MPV17_HUMAN
  • 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:0000269 PubMed:16582907, ECO:0000269 PubMed:16582910, ECO:0000269 PubMed:16909392}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MPV17

Genetic Association Database (GAD)
MPV17
Human Genome Epidemiology (HuGE) Navigator
MPV17
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MPV17
genes like me logo Genes that share disorders with MPV17: view

No data available for Genatlas for MPV17 Gene

Publications for MPV17 Gene

  1. The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization. (PMID: 8281143) Karasawa M. … Weiher H. (Hum. Mol. Genet. 1993) 2 3 4 23 67
  2. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. (PMID: 16582910) Spinazzola A. … Zeviani M. (Nat. Genet. 2006) 2 3
  3. Human Mpv17-like protein is localized in peroxisomes and regulates expression of antioxidant enzymes. (PMID: 16631601) Iida R. … Kishi K. (Biochem. Biophys. Res. Commun. 2006) 3 23
  4. M-LP, Mpv17-like protein, has a peroxisomal membrane targeting signal comprising a transmembrane domain and a positively charged loop and up-regulates expression of the manganese superoxide dismutase gene. (PMID: 12471025) Iida R. … Kishi K. (J. Biol. Chem. 2003) 3 23
  5. Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue. (PMID: 7564095) Schenkel J. … Weiher H. (Kidney Int. 1995) 3 23

Products for MPV17 Gene

Sources for MPV17 Gene

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