Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

MPV17 MpV17 mitochondrial inner membrane protein [ Homo sapiens (human) ]

Gene ID: 4358, updated on 13-Apr-2014
Official Symbol
MPV17provided by HGNC
Official Full Name
MpV17 mitochondrial inner membrane proteinprovided by HGNC
Primary source
HGNC:7224
See related
Ensembl:ENSG00000115204; HPRD:08847; MIM:137960; Vega:OTTHUMG00000097074
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; 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]
Location :
2p23.3
Sequence :
Chromosome: 2; NC_000002.12 (27309492..27323102, complement)
See MPV17 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 30 (zinc transporter), member 3 Neighboring gene DnaJ (Hsp40) homolog, subfamily C, member 5 gamma Neighboring gene tripartite motif containing 54 Neighboring gene urocortin Neighboring gene general transcription factor IIIC, polypeptide 2, beta 110kDa Neighboring gene uncharacterized LOC100505624 Neighboring gene eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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 ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
reactive oxygen species metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of reactive oxygen species metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
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 
NOT peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
peroxisome NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
protein Mpv17
Names
protein Mpv17
Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome

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
    4463..18072
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002437.4NP_002428.1  protein Mpv17

    See proteins identical to NP_002428.1

    Status: REVIEWED

    Source sequence(s)
    BC001115, BI602840, X76538
    Consensus CDS
    CCDS1748.1
    UniProtKB/Swiss-Prot
    P39210
    Related
    ENSP00000369383, OTTHUMP00000122592, ENST00000380044, OTTHUMT00000214193
    Conserved Domains (1) summary
    pfam04117
    Location:109175
    Blast Score: 214
    Mpv17_PMP22; Mpv17 / PMP22 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12

    Range
    27309492..27323102, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712021.1XP_006712084.1  

    Conserved Domains (1) summary
    pfam04117
    Location:93159
    Blast Score: 218
    Mpv17_PMP22; Mpv17 / PMP22 family
  2. XM_005264327.1XP_005264384.1  

    See proteins identical to XP_005264384.1

    Conserved Domains (1) summary
    pfam04117
    Location:56122
    Blast Score: 206
    Mpv17_PMP22; Mpv17 / PMP22 family
  3. XM_005264326.1XP_005264383.1  

    See proteins identical to XP_005264383.1

    UniProtKB/Swiss-Prot
    P39210
    Conserved Domains (1) summary
    pfam04117
    Location:109175
    Blast Score: 214
    Mpv17_PMP22; Mpv17 / PMP22 family

Alternate HuRef

Genomic

  1. AC_000134.1 Alternate HuRef

    Range
    27274582..27288152, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    27462306..27475919, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...