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MPV17L MPV17 mitochondrial inner membrane protein like [ Homo sapiens (human) ]

Gene ID: 255027, updated on 5-Mar-2024

Summary

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Official Symbol
MPV17Lprovided by HGNC
Official Full Name
MPV17 mitochondrial inner membrane protein likeprovided by HGNC
Primary source
HGNC:HGNC:26827
See related
Ensembl:ENSG00000156968 MIM:618100; AllianceGenome:HGNC:26827
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
M-LPH; MLPH1; MLPH2; M-LPH1; M-LPH2; MPV17L1
Summary
Involved in negative regulation of hydrogen peroxide biosynthetic process; negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway; and reactive oxygen species metabolic process. Located in peroxisome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in kidney (RPKM 1.8), duodenum (RPKM 1.5) and 20 other tissues See more
Orthologs
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Genomic context

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Location:
16p13.11
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (15395754..15413271)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (15400550..15418071)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (15489611..15507128)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene phospholipase A2 group XG, pseudogene Neighboring gene nuclear pore complex interacting protein family member A5 Neighboring gene MPV17L-BMERB1 readthrough Neighboring gene ReSE screen-validated silencer GRCh37_chr16:15506027-15506244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:15528749-15529371 Neighboring gene bMERB domain containing 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:15587399-15588598 Neighboring gene Sharpr-MPRA regulatory region 1380 Neighboring gene uncharacterized LOC105371102 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:15603978-15604478 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:15607777-15607948 Neighboring gene NANOG hESC enhancer GRCh37_chr16:15632973-15633474 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:15636050-15636595 Neighboring gene Sharpr-MPRA regulatory region 9672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:15673003-15673503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:15680941-15681442 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:15684383-15685582 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:15693082-15694281 Neighboring gene Sharpr-MPRA regulatory region 10508 Neighboring gene meiosis regulator and mRNA stability factor 1 Neighboring gene microRNA 6506

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Human Mpv17-like protein with a mitigating effect on mtDNA damage is involved in cAMP/PKA signaling in the mitochondrial matrix. Iida R, et al. Biochim Biophys Acta Mol Cell Res, 2020 Oct. PMID 32621840
  2. Identification of interacting partners of Human Mpv17-like protein with a mitigating effect of mitochondrial dysfunction through mtDNA damage. Iida R, et al. Free Radic Biol Med, 2015 Oct. PMID 26165189
  3. Human Mpv17-like protein is localized in peroxisomes and regulates expression of antioxidant enzymes. Iida R, et al. Biochem Biophys Res Commun, 2006 Jun 9. PMID 16631601
  4. Identification of Rhit as a novel transcriptional repressor of human Mpv17-like protein with a mitigating effect on mitochondrial dysfunction, and its transcriptional regulation by FOXD3 and GABP. Iida R, et al. Free Radic Biol Med, 2012 Apr 15. PMID 22306510
  5. A proteome-wide perspective on peroxisome targeting signal 1(PTS1)-Pex5p affinities. Ghosh D, et al. J Am Chem Soc, 2010 Mar 24. PMID 20178365

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Human Mpv17-like protein with a mitigating effect on mtDNA damage is involved in cAMP/PKA signaling in the mitochondrial matrix.
    Title: Human Mpv17-like protein with a mitigating effect on mtDNA damage is involved in cAMP/PKA signaling in the mitochondrial matrix.
  2. these observations suggest that M-LPH is involved in the maintenance of mtDNA and protects cells from mitochondrial dysfunction.
    Title: Identification of interacting partners of Human Mpv17-like protein with a mitigating effect of mitochondrial dysfunction through mtDNA damage.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough MPV17L-BMERB1

Readthrough gene: MPV17L-BMERB1, Included gene: BMERB1

Homology

Clone Names

  • FLJ39599, MGC70356

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in negative regulation of hydrogen peroxide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in peroxisomal membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
mpv17-like protein
Names
Human Mpv17-like protein
M-LP homolog
MPV17 mitochondrial membrane protein-like
Mpv17-like protein type 1
Mpv17-like protein type 2

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.

mRNA and Protein(s)

  1. NM_001128423.2 → NP_001121895.1  mpv17-like protein isoform 1

    See identical proteins and their annotated locations for NP_001121895.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
    Source sequence(s)
    AC140504, BM838624, DQ004255
    Consensus CDS
    CCDS45421.1
    UniProtKB/Swiss-Prot
    B4DDY1, Q2QL34, Q6P7T6, Q8N8E9
    Related
    ENSP00000379669.3, ENST00000396385.4
    Conserved Domains (1) summary
    pfam04117
    Location:107 → 166
    Mpv17_PMP22; Mpv17 / PMP22 family

  2. NM_173803.4 → NP_776164.2  mpv17-like protein isoform 2

    See identical proteins and their annotated locations for NP_776164.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate segment, which shifts the reading frame, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct C-terminus when it is compared to isoform 1.
    Source sequence(s)
    AC140504, BM838624, DQ004256
    Consensus CDS
    CCDS10560.1
    UniProtKB/Swiss-Prot
    Q2QL34
    Related
    ENSP00000287594.6, ENST00000287594.7

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    15395754..15413271
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187607.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    1053717..1071250
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    15400550..15418071
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2QL34.1 GenPept UniProtKB/Swiss-Prot:Q2QL34

Gene LinkOut

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