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

    Gene ID: 255027, updated on 17-Jun-2019

    Summary

    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
    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; MPV17L1
    Expression
    Broad expression in kidney (RPKM 1.8), duodenum (RPKM 1.5) and 20 other tissues See more
    Orthologs

    Genomic context

    See MPV17L in Genome Data Viewer
    Location:
    16p13.11
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (15395569..15413271)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (15489611..15503543)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987241 Neighboring gene uncharacterized LOC105371103 Neighboring gene nuclear pore complex interacting protein family member A5 Neighboring gene bMERB domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 1380 Neighboring gene uncharacterized LOC105371102

    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

    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

    Clone Names

    • FLJ39599, MGC70356

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    peroxisomal membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    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.

    mRNA and Protein(s)

    1. NM_001128423.2NP_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
      Q2QL34
      Related
      ENSP00000379669.3, ENST00000396385.4
      Conserved Domains (1) summary
      pfam04117
      Location:107166
      Mpv17_PMP22; Mpv17 / PMP22 family
    2. NM_173803.4NP_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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      15395569..15413271
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023108.1XP_016878597.1  mpv17-like protein isoform X1

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_187607.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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