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    Mpv17 MpV17 mitochondrial inner membrane protein [ Mus musculus (house mouse) ]

    Gene ID: 17527, updated on 21-Apr-2024

    Summary

    Official Symbol
    Mpv17provided by MGI
    Official Full Name
    MpV17 mitochondrial inner membrane proteinprovided by MGI
    Primary source
    MGI:MGI:97138
    See related
    Ensembl:ENSMUSG00000107283 AllianceGenome:MGI:97138
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Tg.Mpv17
    Summary
    Predicted to enable channel activity. Involved in several processes, including cellular response to reactive oxygen species; glomerular basement membrane development; and regulation of mitochondrial DNA metabolic process. Acts upstream of or within reactive oxygen species metabolic process and sensory perception of sound. Located in mitochondrion and peroxisome. Used to study autosomal recessive Alport syndrome; mitochondrial DNA depletion syndrome 3; and nephrotic syndrome. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2EE and mitochondrial DNA depletion syndrome 6. Orthologous to human MPV17 (mitochondrial inner membrane protein MPV17). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney adult (RPKM 42.0), heart adult (RPKM 38.5) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    5 B1; 5 17.12 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (31298007..31311595, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (31140663..31154251, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene tripartite motif-containing 54 Neighboring gene predicted gene 15469 Neighboring gene urocortin Neighboring gene general transcription factor IIIC, polypeptide 2, beta Neighboring gene STARR-seq mESC enhancer starr_12767 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:31495236-31495423 Neighboring gene eukaryotic translation initiation factor 2B, subunit 4 delta

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Transgenic (1)  1 citation
    • Endonuclease-mediated (2) 

    General gene information

    Potential readthrough

    Included gene: Gtf3c2

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    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_001294322.1NP_001281251.1  protein Mpv17 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 2. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      BY088136, BY258057, BY271802, BY415502, CD776211, CF731561, CK622051, CX633035, DV660230
      Consensus CDS
      CCDS80248.1
      UniProtKB/TrEMBL
      D3YWI4, E9Q1I6
      Related
      ENSMUSP00000143843.2, ENSMUST00000200744.4
      Conserved Domains (1) summary
      pfam04117
      Location:110163
      Mpv17_PMP22; Mpv17 / PMP22 family
    2. NM_001294324.1NP_001281253.1  protein Mpv17 isoform 1

      See identical proteins and their annotated locations for NP_001281253.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes isoform 1. Variants 1, 2, and 4 encode the same isoform (1).
      Source sequence(s)
      BY415502, CD776211, CF731561, CX633035, DV062332, DV660230
      Consensus CDS
      CCDS19175.1
      UniProtKB/Swiss-Prot
      P19258
      UniProtKB/TrEMBL
      D3YWI4
      Related
      ENSMUSP00000144331.2, ENSMUST00000200864.4
      Conserved Domains (1) summary
      pfam04117
      Location:110174
      Mpv17_PMP22; Mpv17 / PMP22 family
    3. NM_001310527.1NP_001297456.1  protein Mpv17 isoform 1

      See identical proteins and their annotated locations for NP_001297456.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 2. Variants 1, 2, and 4 encode the same isoform (1).
      Source sequence(s)
      AC109608
      Consensus CDS
      CCDS19175.1
      UniProtKB/Swiss-Prot
      P19258
      UniProtKB/TrEMBL
      D3YWI4
      Related
      ENSMUSP00000144198.2, ENSMUST00000201353.4
      Conserved Domains (1) summary
      pfam04117
      Location:110174
      Mpv17_PMP22; Mpv17 / PMP22 family
    4. NM_001310528.1NP_001297457.1  protein Mpv17 isoform 3

      See identical proteins and their annotated locations for NP_001297457.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes isoform 3, which is longer than isoform 1.
      Source sequence(s)
      AC109608
      Consensus CDS
      CCDS80249.1
      UniProtKB/TrEMBL
      D3YWI4, G3UVW1
      Related
      ENSMUSP00000144119.2, ENSMUST00000202241.4
      Conserved Domains (1) summary
      pfam04117
      Location:110176
      Mpv17_PMP22; Mpv17 / PMP22 family
    5. NM_008622.6NP_032648.1  protein Mpv17 isoform 1

      See identical proteins and their annotated locations for NP_032648.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1, 2, and 4 encode the same isoform (1).
      Source sequence(s)
      BY088136, BY258057, BY271802, BY415502, CD776211, CF731561, CK622051, CX633035, DV660230
      Consensus CDS
      CCDS19175.1
      UniProtKB/Swiss-Prot
      P19258
      UniProtKB/TrEMBL
      D3YWI4
      Related
      ENSMUSP00000115292.2, ENSMUST00000154241.8
      Conserved Domains (1) summary
      pfam04117
      Location:110174
      Mpv17_PMP22; Mpv17 / PMP22 family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      31298007..31311595 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)