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    Mpv17l Mpv17 transgene, kidney disease mutant-like [ Mus musculus (house mouse) ]

    Gene ID: 93734, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Mpv17lprovided by MGI
    Official Full Name
    Mpv17 transgene, kidney disease mutant-likeprovided by MGI
    Primary source
    MGI:MGI:2135951
    See related
    Ensembl:ENSMUSG00000022679 AllianceGenome:MGI:2135951
    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
    M-LP
    Summary
    Predicted to be 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 mitochondrion. Orthologous to human MPV17L (MPV17 mitochondrial inner membrane protein like). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in kidney adult (RPKM 40.0), cortex adult (RPKM 5.6) and 3 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mpv17l in Genome Data Viewer
    Location:
    16 A1; 16 9.64 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (13721025..13767483)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (13903161..13949619)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene N-terminal Asn amidase Neighboring gene pyridoxal-dependent decarboxylase domain containing 1 Neighboring gene nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene Neighboring gene STARR-seq mESC enhancer starr_40163 Neighboring gene STARR-positive B cell enhancer ABC_E8619 Neighboring gene STARR-seq mESC enhancer starr_40164 Neighboring gene laminin, gamma 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_40165 Neighboring gene STARR-seq mESC enhancer starr_40166 Neighboring gene STARR-seq mESC enhancer starr_40168 Neighboring gene STARR-seq mESC enhancer starr_40169 Neighboring gene STARR-seq mESC enhancer starr_40170 Neighboring gene interferon induced transmembrane protein 7 Neighboring gene bMERB domain containing 1 Neighboring gene aldo-keto reductase family 1, member B8 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Deficiency of M-LP/Mpv17L leads to development of β-cell hyperplasia and improved glucose tolerance via activation of the Wnt and TGF-β pathways. Iida R, et al. Biochim Biophys Acta Mol Basis Dis, 2022 Mar 1. PMID 34883249
    2. A novel alternative spliced Mpv17-like protein isoform localizes in cytosol and is expressed in a kidney- and adult-specific manner. Iida R, et al. Exp Cell Res, 2005 Jan 1. PMID 15541722
    3. Knockout of M-LP/Mpv17L, a newly identified atypical PDE, induces physiological afferent cardiac hypertrophy in mice. Iida R, et al. Transgenic Res, 2023 Dec. PMID 37851308, Free PMC Article
    4. Cloning, mapping, genomic organization, and expression of mouse M-LP, a new member of the peroxisomal membrane protein Mpv17 domain family. Iida R, et al. Biochem Biophys Res Commun, 2001 May 4. PMID 11327696
    5. Mpv17l protects against mitochondrial oxidative stress and apoptosis by activation of Omi/HtrA2 protease. Krick S, et al. Proc Natl Acad Sci U S A, 2008 Sep 16. PMID 18772386, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Knockout of M-LP/Mpv17L, a newly identified atypical PDE, induces physiological afferent cardiac hypertrophy in mice.
      Title: Knockout of M-LP/Mpv17L, a newly identified atypical PDE, induces physiological afferent cardiac hypertrophy in mice.
    2. Deficiency of M-LP/Mpv17L leads to development of beta-cell hyperplasia and improved glucose tolerance via activation of the Wnt and TGF-beta pathways.
      Title: Deficiency of M-LP/Mpv17L leads to development of β-cell hyperplasia and improved glucose tolerance via activation of the Wnt and TGF-β pathways.
    3. identify Mpv17l as a unique interacting protein and regulator of HtrA2 protease mediating antioxidant and antiapoptotic function in mitochondria
      Title: Mpv17l protects against mitochondrial oxidative stress and apoptosis by activation of Omi/HtrA2 protease.
    4. participates in reactive oxygen species metabolism
      Title: M-LP, Mpv17-like protein, has a peroxisomal membrane targeting signal comprising a transmembrane domain and a positively charged loop and up-regulates expression of the manganese superoxide dismutase gene.
    5. In mice, M-LPs is expressed exclusively in kidneys after 6 weeks. Transfection with M-LPS up-regulates SOD2 and down-regulates cellular glutathione peroxidase (Gpx1) and plasma glutathione peroxidase (Gpx3) gene expression
      Title: A novel alternative spliced Mpv17-like protein isoform localizes in cytosol and is expressed in a kidney- and adult-specific manner.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of hydrogen peroxide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in reactive oxygen species metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in reactive oxygen species metabolic process ISS
    Inferred from Sequence or Structural Similarity
    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 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 peroxisomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in peroxisome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in peroxisome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mpv17-like protein

    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_001289561.1 → NP_001276490.1  mpv17-like protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice in the 3' coding region which results in a frameshift compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC107769
      Consensus CDS
      CCDS79425.1
      UniProtKB/TrEMBL
      D3Z6M3
      Related
      ENSMUSP00000116147.2, ENSMUST00000143697.8

    2. NM_001289562.1 → NP_001276491.1  mpv17-like protein isoform 3

      See identical proteins and their annotated locations for NP_001276491.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC107769, AK136449
      Consensus CDS
      CCDS79423.1
      UniProtKB/TrEMBL
      E9Q4P9
      Related
      ENSMUSP00000120169.2, ENSMUST00000128757.8
      Conserved Domains (1) summary
      pfam04117
      Location:9 → 68
      Mpv17_PMP22; Mpv17 / PMP22 family

    3. NM_001289563.1 → NP_001276492.1  mpv17-like protein isoform 4

      See identical proteins and their annotated locations for NP_001276492.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (4) has a shorter N-terminus, compared to isoform 1. Variants 4, 5 and 6 encode the same isoform (4).
      Source sequence(s)
      AC107769, AK144372
      Consensus CDS
      CCDS79426.1
      UniProtKB/TrEMBL
      E9Q4P9
      Related
      ENSMUSP00000123424.2, ENSMUST00000141971.8
      Conserved Domains (1) summary
      pfam04117
      Location:2 → 61
      Mpv17_PMP22; Mpv17 / PMP22 family

    4. NM_001289565.1 → NP_001276494.1  mpv17-like protein isoform 4

      See identical proteins and their annotated locations for NP_001276494.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (4) has a shorter N-terminus, compared to isoform 1. Variants 4, 5 and 6 encode the same isoform (4).
      Source sequence(s)
      AC107769
      Consensus CDS
      CCDS79426.1
      UniProtKB/TrEMBL
      E9Q4P9
      Related
      ENSMUSP00000117826.3, ENSMUST00000124947.8
      Conserved Domains (1) summary
      pfam04117
      Location:2 → 61
      Mpv17_PMP22; Mpv17 / PMP22 family

    5. NM_001289567.1 → NP_001276496.1  mpv17-like protein isoform 4

      See identical proteins and their annotated locations for NP_001276496.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (4) has a shorter N-terminus, compared to isoform 1. Variants 4, 5 and 6 encode the same isoform (4).
      Source sequence(s)
      AC107769, BB618586
      Consensus CDS
      CCDS79426.1
      UniProtKB/TrEMBL
      E9Q4P9
      Conserved Domains (1) summary
      pfam04117
      Location:2 → 61
      Mpv17_PMP22; Mpv17 / PMP22 family

    6. NM_033564.3 → NP_291042.2  mpv17-like protein isoform 1

      See identical proteins and their annotated locations for NP_291042.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the logest isoform (1).
      Source sequence(s)
      AC107769, AF305634
      Consensus CDS
      CCDS27970.1
      UniProtKB/Swiss-Prot
      Q3UWD2, Q8CI14, Q99MS3
      Related
      ENSMUSP00000023360.8, ENSMUST00000023360.14
      Conserved Domains (1) summary
      pfam04117
      Location:107 → 166
      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_000082.7 Reference GRCm39 C57BL/6J

      Range
      13721025..13767483
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030249342.1 → XP_030105202.1  mpv17-like protein isoform X1

      UniProtKB/TrEMBL
      E9Q4P9
      Conserved Domains (1) summary
      pfam04117
      Location:2 → 61
      Mpv17_PMP22; Mpv17 / PMP22 family

    2. XM_036160190.1 → XP_036016083.1  mpv17-like protein isoform X1

      UniProtKB/TrEMBL
      E9Q4P9
      Conserved Domains (1) summary
      pfam04117
      Location:2 → 61
      Mpv17_PMP22; Mpv17 / PMP22 family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99MS3.2 GenPept UniProtKB/Swiss-Prot:Q99MS3

    Gene LinkOut

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

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