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MPV17 mitochondrial inner membrane protein MPV17 [ Homo sapiens (human) ]

Gene ID: 4358, updated on 10-Oct-2019

Summary

Official Symbol
MPV17provided by HGNC
Official Full Name
mitochondrial inner membrane protein MPV17provided by HGNC
Primary source
HGNC:HGNC:7224
See related
Ensembl:ENSG00000115204 MIM:137960
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SYM1; CMT2EE; MTDPS6
Summary
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]
Expression
Ubiquitous expression in adrenal (RPKM 8.6), thyroid (RPKM 7.8) and 25 other tissues See more
Orthologs

Genomic context

See MPV17 in Genome Data Viewer
Location:
2p23.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (27309492..27323097, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27532360..27545969, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 30 member 3 Neighboring gene DnaJ heat shock protein family (Hsp40) member C5 gamma Neighboring gene tripartite motif containing 54 Neighboring gene urocortin Neighboring gene Sharpr-MPRA regulatory regions 9483 and 12628 Neighboring gene general transcription factor IIIC subunit 2 Neighboring gene GTF3C2 antisense RNA 1 Neighboring gene uncharacterized LOC105374363

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Peroxisome, organism-specific biosystem (from KEGG)
    Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
  • Peroxisome, conserved biosystem (from KEGG)
    Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
cellular response to reactive oxygen species ISS
Inferred from Sequence or Structural Similarity
more info
 
glomerular basement membrane development ISS
Inferred from Sequence or Structural Similarity
more info
 
homeostatic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
inner ear development ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial genome maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
regulation of mitochondrial DNA metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of reactive oxygen species metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
peroxisomal membrane TAS
Traceable Author Statement
more info
 
NOT peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
peroxisome NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
protein Mpv17
Names
MPV17, mitochondrial inner membrane protein
MpV17 mitochondrial inner membrane protein
Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008075.1 RefSeqGene

    Range
    4468..18072
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002437.5NP_002428.1  protein Mpv17

    See identical proteins and their annotated locations for NP_002428.1

    Status: REVIEWED

    Source sequence(s)
    BC001115, BI602840, X76538
    Consensus CDS
    CCDS1748.1
    UniProtKB/Swiss-Prot
    P39210
    UniProtKB/TrEMBL
    A0A0S2Z3Z9
    Related
    ENSP00000369383.1, ENST00000380044.6
    Conserved Domains (1) summary
    pfam04117
    Location:109170
    Mpv17_PMP22; Mpv17 / PMP22 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    27309492..27323097 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712021.3XP_006712084.1  protein Mpv17 isoform X3

    Conserved Domains (1) summary
    pfam04117
    Location:93154
    Mpv17_PMP22; Mpv17 / PMP22 family
  2. XM_017004150.1XP_016859639.1  protein Mpv17 isoform X2

    Conserved Domains (1) summary
    pfam04117
    Location:103164
    Mpv17_PMP22; Mpv17 / PMP22 family
  3. XM_005264326.4XP_005264383.1  protein Mpv17 isoform X1

    See identical proteins and their annotated locations for XP_005264383.1

    UniProtKB/Swiss-Prot
    P39210
    UniProtKB/TrEMBL
    A0A0S2Z3Z9
    Conserved Domains (1) summary
    pfam04117
    Location:109170
    Mpv17_PMP22; Mpv17 / PMP22 family
  4. XM_024452913.1XP_024308681.1  protein Mpv17 isoform X3

    Conserved Domains (1) summary
    pfam04117
    Location:93154
    Mpv17_PMP22; Mpv17 / PMP22 family
  5. XM_017004151.1XP_016859640.1  protein Mpv17 isoform X3

    Conserved Domains (1) summary
    pfam04117
    Location:93154
    Mpv17_PMP22; Mpv17 / PMP22 family
  6. XM_017004152.1XP_016859641.1  protein Mpv17 isoform X4

    Related
    ENSP00000349713.6, ENST00000357186.10
    Conserved Domains (1) summary
    pfam04117
    Location:58121
    Mpv17_PMP22; Mpv17 / PMP22 family
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