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

Gene ID: 4358, updated on 4-Jan-2025

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; AllianceGenome:HGNC:7224
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
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Genomic context

See MPV17 in Genome Data Viewer
Location:
2p23.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27309492..27323097, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27351915..27365520, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27532360..27545964, 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 ReSE screen-validated silencer GRCh37_chr2:27524348-27524553 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27543343-27543946 Neighboring gene Sharpr-MPRA regulatory regions 9483 and 12628 Neighboring gene urocortin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15498 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27545801-27546773 Neighboring gene general transcription factor IIIC subunit 2 Neighboring gene GTF3C2 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:27579025-27579638 and GRCh37_chr2:27579639-27580252 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27582391-27583132 Neighboring gene GTF3C2 antisense RNA 2 Neighboring gene eukaryotic translation initiation factor 2B subunit delta

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables channel activity  
enables channel activity PubMed 
Process Evidence Code Pubs
involved_in cellular response to reactive oxygen species  
involved_in glomerular basement membrane development  
involved_in homeostatic process PubMed 
involved_in inner ear development  
involved_in mitochondrial genome maintenance PubMed 
involved_in regulation of mitochondrial DNA metabolic process  
involved_in regulation of mitochondrial DNA metabolic process PubMed 
involved_in regulation of reactive oxygen species metabolic process  
involved_in transmembrane transport  
Component Evidence Code Pubs
is_active_in cytoplasm  
located_in cytosol  
located_in mitochondrial inner membrane PubMed 
located_in mitochondrion PubMed 
is_active_in mitochondrion  
located_in mitochondrion PubMed 
located_in peroxisomal membrane  
NOT located_in peroxisome PubMed 
located_in peroxisome PubMed 

General protein information

Preferred Names
mitochondrial inner membrane protein Mpv17; 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)

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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_008075.2 RefSeqGene

    Range
    5000..18605
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002437.5NP_002428.1  mitochondrial inner membrane 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
    D6W555, P39210, Q53SY2, Q96B08
    UniProtKB/TrEMBL
    A0A0S2Z3Z9, E7EX18
    Related
    ENSP00000369383.1, ENST00000380044.6
    Conserved Domains (1) summary
    pfam04117
    Location:109170
    Mpv17_PMP22; Mpv17 / PMP22 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005264326.5XP_005264383.1  protein Mpv17 isoform X1

    See identical proteins and their annotated locations for XP_005264383.1

    UniProtKB/Swiss-Prot
    D6W555, P39210, Q53SY2, Q96B08
    UniProtKB/TrEMBL
    A0A0S2Z3Z9, E7EX18
    Conserved Domains (1) summary
    pfam04117
    Location:109170
    Mpv17_PMP22; Mpv17 / PMP22 family
  2. XM_017004151.2XP_016859640.1  protein Mpv17 isoform X2

    Conserved Domains (1) summary
    pfam04117
    Location:93154
    Mpv17_PMP22; Mpv17 / PMP22 family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    27351915..27365520 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342128.1XP_054198103.1  protein Mpv17 isoform X1

    UniProtKB/Swiss-Prot
    D6W555, P39210, Q53SY2, Q96B08
    UniProtKB/TrEMBL
    A0A0S2Z3Z9, E7EX18
  2. XM_054342129.1XP_054198104.1  protein Mpv17 isoform X2

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