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    Pex5 peroxisomal biogenesis factor 5 [ Mus musculus (house mouse) ]

    Gene ID: 19305, updated on 9-Dec-2024

    Summary

    Official Symbol
    Pex5provided by MGI
    Official Full Name
    peroxisomal biogenesis factor 5provided by MGI
    Primary source
    MGI:MGI:1098808
    See related
    Ensembl:ENSMUSG00000005069 AllianceGenome:MGI:1098808
    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
    Pxr1; ESTM1; PTS1R; PXR1P; PTS1-BP
    Summary
    Predicted to enable peroxisome targeting sequence binding activity; protein carrier chaperone; and small GTPase binding activity. Involved in protein import into peroxisome matrix. Acts upstream of or within several processes, including fatty acid metabolic process; mitochondrial membrane organization; and nervous system development. Predicted to be located in Golgi apparatus; membrane; and peroxisome. Predicted to be part of protein-containing complex. Predicted to be active in cytosol; peroxisomal matrix; and peroxisomal membrane. Is expressed in central nervous system; dorsal root ganglion; genitourinary system; inner ear; and liver. Human ortholog(s) of this gene implicated in peroxisome biogenesis disorder 2A; peroxisome biogenesis disorder 2B; and rhizomelic chondrodysplasia punctata type 5. Orthologous to human PEX5 (peroxisomal biogenesis factor 5). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in liver adult (RPKM 17.6), subcutaneous fat pad adult (RPKM 13.2) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Pex5 in Genome Data Viewer
    Location:
    6 F2; 6 59.15 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (124373774..124392878, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (124396816..124415944, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700013D24 gene Neighboring gene RIKEN cDNA 1700027F06 gene Neighboring gene RIKEN cDNA D830015G05 gene Neighboring gene STARR-positive B cell enhancer ABC_E3680 Neighboring gene calsyntenin 3 Neighboring gene predicted gene, 44096 Neighboring gene complement component 1, r subcomponent-like

    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)
    • Endonuclease-mediated (4) 
    • Targeted (2)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables peroxisome matrix targeting signal-1 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables peroxisome matrix targeting signal-1 binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables peroxisome matrix targeting signal-1 binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables peroxisome membrane targeting sequence binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables peroxisome membrane targeting sequence binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables peroxisome targeting sequence binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables peroxisome targeting sequence binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables protein carrier chaperone ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein carrier chaperone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to reactive oxygen species IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to reactive oxygen species ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cerebral cortex cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cerebral cortex neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within endoplasmic reticulum organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within fatty acid beta-oxidation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT acts_upstream_of_or_within isoprenoid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lipid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mitochondrial membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein-containing complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protein-containing complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neuromuscular process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within peroxisome organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within peroxisome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pexophagy ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in pexophagy ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within positive regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein import into peroxisome matrix IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein import into peroxisome matrix ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein import into peroxisome matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein import into peroxisome matrix, docking IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein import into peroxisome matrix, docking IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein import into peroxisome matrix, docking ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein import into peroxisome matrix, receptor recycling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein import into peroxisome matrix, receptor recycling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein import into peroxisome matrix, substrate release ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein import into peroxisome matrix, substrate release ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein import into peroxisome matrix, translocation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein import into peroxisome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein import into peroxisome membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein targeting to peroxisome ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein targeting to peroxisome ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    acts_upstream_of_or_within protein targeting to peroxisome TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein tetramerization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within very long-chain fatty acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in peroxisomal matrix ISO
    Inferred from Sequence Orthology
    more info
     
    located_in peroxisomal matrix ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in peroxisomal matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in peroxisomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in peroxisomal membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in peroxisome ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    peroxisomal targeting signal 1 receptor
    Names
    PTS1 receptor
    peroxin 5
    peroxisomal C-terminal targeting signal import receptor
    peroxisome biogenesis factor 5
    peroxisome receptor 1

    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_001277330.2NP_001264259.1  peroxisomal targeting signal 1 receptor isoform 2

      See identical proteins and their annotated locations for NP_001264259.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate in-frame exon in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1. Variants 2 and 4 encode the same protein (isoform 2).
      Source sequence(s)
      AC124470
      Consensus CDS
      CCDS20518.1
      UniProtKB/Swiss-Prot
      O09012
      Related
      ENSMUSP00000108150.2, ENSMUST00000112531.8
      Conserved Domains (2) summary
      sd00006
      Location:451479
      TPR; TPR repeat [structural motif]
      cl26002
      Location:311546
      TPR_11; TPR repeat
    2. NM_001277805.2NP_001264734.1  peroxisomal targeting signal 1 receptor isoform 1

      See identical proteins and their annotated locations for NP_001264734.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 5, 7, and 8 all encode the same isoform (1).
      Source sequence(s)
      AC124470
      Consensus CDS
      CCDS20517.1
      UniProtKB/Swiss-Prot
      O09012, Q3UM58, Q8K2V5, Q91YC7
      Related
      ENSMUSP00000049132.6, ENSMUST00000035861.6
      Conserved Domains (3) summary
      TIGR02917
      Location:348583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:307342
      PRY; SPRY-associated domain
    3. NM_001360570.2NP_001347499.1  peroxisomal targeting signal 1 receptor isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC124470
      Consensus CDS
      CCDS20518.1
      Conserved Domains (2) summary
      sd00006
      Location:451479
      TPR; TPR repeat [structural motif]
      cl26002
      Location:311546
      TPR_11; TPR repeat
    4. NM_001410279.1NP_001397208.1  peroxisomal targeting signal 1 receptor isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC124470
      UniProtKB/Swiss-Prot
      O09012, Q3UM58, Q8K2V5, Q91YC7
    5. NM_001410280.1NP_001397209.1  peroxisomal targeting signal 1 receptor isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC124470
      UniProtKB/Swiss-Prot
      O09012, Q3UM58, Q8K2V5, Q91YC7
    6. NM_001410281.1NP_001397210.1  peroxisomal targeting signal 1 receptor isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC124470
      UniProtKB/TrEMBL
      D3Z600
      Related
      ENSMUSP00000108149.2, ENSMUST00000112530.8
    7. NM_008995.3NP_033021.2  peroxisomal targeting signal 1 receptor isoform 1

      See identical proteins and their annotated locations for NP_033021.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest protein (isoform 1). Variants 1, 5, 7, and 8 all encode the same isoform (1).
      Source sequence(s)
      AC124470
      Consensus CDS
      CCDS20517.1
      UniProtKB/Swiss-Prot
      O09012, Q3UM58, Q8K2V5, Q91YC7
      Related
      ENSMUSP00000108151.2, ENSMUST00000112532.8
      Conserved Domains (3) summary
      TIGR02917
      Location:348583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:307342
      PRY; SPRY-associated domain
    8. NM_175933.3NP_787947.1  peroxisomal targeting signal 1 receptor isoform 2

      See identical proteins and their annotated locations for NP_787947.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR and lacks an alternate in-frame exon in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1. Variants 2 and 4 encode the same protein (isoform 2).
      Source sequence(s)
      AC124470
      Consensus CDS
      CCDS20518.1
      UniProtKB/Swiss-Prot
      O09012
      Related
      ENSMUSP00000079398.6, ENSMUST00000080557.12
      Conserved Domains (2) summary
      sd00006
      Location:451479
      TPR; TPR repeat [structural motif]
      cl26002
      Location:311546
      TPR_11; TPR repeat

    RNA

    1. NR_176972.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC124470
    2. NR_176973.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC124470

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      124373774..124392878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)