U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

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

    Gene ID: 255027, updated on 10-Dec-2024

    Summary

    Go to the top of the page Help
    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, Dec 2024]
    Expression
    Broad expression in kidney (RPKM 1.8), duodenum (RPKM 1.5) and 20 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See MPV17L in Genome Data Viewer
    Location:
    16p13.11
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (15395754..15413271)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (15400550..15418071)
    RS_2024_09 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

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    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

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Readthrough MPV17L-BMERB1

    Readthrough gene: MPV17L-BMERB1, Included gene: BMERB1

    Homology

    Clone Names

    • FLJ39599, MGC70356

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in mitochondrial ribosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 
    involved_in reactive oxygen species metabolic process 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
    		  
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

    Go to the top of the page Help
    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)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools