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    Pex7 peroxisomal biogenesis factor 7 [ Mus musculus (house mouse) ]

    Gene ID: 18634, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Pex7provided by MGI
    Official Full Name
    peroxisomal biogenesis factor 7provided by MGI
    Primary source
    MGI:MGI:1321392
    See related
    Ensembl:ENSMUSG00000020003 AllianceGenome:MGI:1321392
    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
    MmPEX7
    Summary
    Predicted to enable enzyme binding activity; peroxisome matrix targeting signal-2 binding activity; and protein homodimerization activity. Acts upstream of or within several processes, including endochondral ossification; fatty acid beta-oxidation; and protein import into peroxisome matrix. Located in cytosol. Is expressed in 2-cell stage embryo and 4-cell stage embryo. Used to study rhizomelic chondrodysplasia punctata type 1. Human ortholog(s) of this gene implicated in peroxisomal biogenesis disorder and rhizomelic chondrodysplasia punctata type 1. Orthologous to human PEX7 (peroxisomal biogenesis factor 7). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 57.2), liver adult (RPKM 36.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    10 A3; 10 9.16 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (19735836..19783420, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (19860090..19907674, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 25256 Neighboring gene solute carrier family 35, member D3 Neighboring gene STARR-seq mESC enhancer starr_25941 Neighboring gene STARR-seq mESC enhancer starr_25942 Neighboring gene STARR-seq mESC enhancer starr_25943 Neighboring gene STARR-positive B cell enhancer ABC_E10597 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:19659120-19659310 Neighboring gene mitogen-activated protein kinase kinase kinase 5 Neighboring gene STARR-seq mESC enhancer starr_25945 Neighboring gene STARR-positive B cell enhancer mm9_chr10:19711687-19711987 Neighboring gene STARR-positive B cell enhancer ABC_E8326 Neighboring gene STARR-positive B cell enhancer ABC_E11432 Neighboring gene STARR-seq mESC enhancer starr_25946 Neighboring gene STARR-seq mESC enhancer starr_25947 Neighboring gene STARR-seq mESC enhancer starr_25949 Neighboring gene STARR-seq mESC enhancer starr_25952 Neighboring gene microtubule-associated protein 7 Neighboring gene predicted gene, 51795

    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. Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata. Fallatah W, et al. Dis Model Mech, 2020 Jan 24. PMID 31862688, Free PMC Article
    2. Plasmalogen phospholipids protect internodal myelin from oxidative damage. Luoma AM, et al. Free Radic Biol Med, 2015 Jul. PMID 25801291
    3. Peroxisomes: a nexus for lipid metabolism and cellular signaling. Lodhi IJ, et al. Cell Metab, 2014 Mar 4. PMID 24508507, Free PMC Article
    4. A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton. Braverman N, et al. Mol Genet Metab, 2010 Apr. PMID 20060764, Free PMC Article
    5. A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity-Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1. Fallatah W, et al. Front Cell Dev Biol, 2022. PMID 35898397, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. siRNA knockdown of PEX7 reduced iNOS colocalization with the peroxisomal protein PMP70. Proteomic studies using MALDI-MS identified iNOS association with the 50-kD ezrin binding PDZ protein (EBP50).
      Title: PEX7 and EBP50 target iNOS to the peroxisome in hepatocytes.
    2. Our data established that peroxisomal processing protease Tysnd1 is necessary to mediate the physiological functions of PTS2-containing substrates.
      Title: Tysnd1 deficiency in mice interferes with the peroxisomal localization of PTS2 enzymes, causing lipid metabolic abnormalities and male infertility.
    3. Mutations in the Pex7 gene cause impaired neuronal migration and endochondral ossification.
      Title: Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (4)  1 citation
    • Endonuclease-mediated (5) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables peroxisome matrix targeting signal-2 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peroxisome matrix targeting signal-2 binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within endochondral ossification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ether lipid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within fatty acid beta-oxidation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in peroxisome organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein import into peroxisome matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within protein import into peroxisome matrix IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein import into peroxisome matrix IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein import into peroxisome matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within protein targeting to peroxisome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in peroxisomal matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in peroxisomal matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in peroxisome ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    peroxisomal biogenesis factor 7
    Names
    PTS2 receptor
    peroxin-7
    peroxisomal targeting signal 2 receptor
    peroxisome biogenesis factor 7

    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_001161825.1 → NP_001155297.1  peroxisomal biogenesis factor 7 isoform 2

      See identical proteins and their annotated locations for NP_001155297.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC171277, BC145300, DV660555
      Consensus CDS
      CCDS48510.1
      UniProtKB/TrEMBL
      B7ZNK8
      Related
      ENSMUSP00000132996.2, ENSMUST00000166511.9
      Conserved Domains (3) summary
      COG2319
      Location:41 → 292
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:65 → 104
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:62 → 284
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. NM_008822.2 → NP_032848.1  peroxisomal biogenesis factor 7 isoform 1

      See identical proteins and their annotated locations for NP_032848.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC171277, BC132213, DV660555
      Consensus CDS
      CCDS23720.1
      UniProtKB/Swiss-Prot
      A2RSR2, P97865
      Related
      ENSMUSP00000020182.9, ENSMUST00000020182.16
      Conserved Domains (3) summary
      COG2319
      Location:41 → 318
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:63 → 310
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:65 → 104
      7WD40; WD40 repeat [structural motif]

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      19735836..19783420 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P97865.1 GenPept UniProtKB/Swiss-Prot:P97865

    Gene LinkOut

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