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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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