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

Gene ID: 19305, updated on 10-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
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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

General gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables enzyme binding  
enables peroxisome matrix targeting signal-1 binding  
enables peroxisome matrix targeting signal-1 binding  
enables peroxisome matrix targeting signal-1 binding PubMed 
enables peroxisome membrane targeting sequence binding  
enables peroxisome membrane targeting sequence binding  
enables peroxisome targeting sequence binding  
enables peroxisome targeting sequence binding PubMed 
enables protein binding PubMed 
enables protein carrier chaperone  
enables protein carrier chaperone  
enables small GTPase binding  
enables small GTPase binding  
Items 1 - 25 of 38
Process Evidence Code Pubs
acts_upstream_of_or_within cell development PubMed 
involved_in cellular response to reactive oxygen species  
involved_in cellular response to reactive oxygen species  
acts_upstream_of_or_within cerebral cortex cell migration PubMed 
acts_upstream_of_or_within cerebral cortex neuron differentiation PubMed 
acts_upstream_of_or_within endoplasmic reticulum organization PubMed 
acts_upstream_of_or_within fatty acid beta-oxidation PubMed 
NOT acts_upstream_of_or_within isoprenoid biosynthetic process PubMed 
acts_upstream_of_or_within lipid metabolic process PubMed 
acts_upstream_of_or_within mitochondrial membrane organization PubMed 
acts_upstream_of_or_within mitochondrion organization PubMed 
involved_in negative regulation of protein-containing complex assembly  
involved_in negative regulation of protein-containing complex assembly  
acts_upstream_of_or_within neuromuscular process PubMed 
acts_upstream_of_or_within neuron migration PubMed 
acts_upstream_of_or_within peroxisome organization PubMed 
acts_upstream_of_or_within peroxisome organization PubMed 
involved_in pexophagy  
involved_in pexophagy  
acts_upstream_of_or_within positive regulation of multicellular organism growth PubMed 
involved_in protein import into peroxisome matrix PubMed 
involved_in protein import into peroxisome matrix  
involved_in protein import into peroxisome matrix  
involved_in protein import into peroxisome matrix, docking  
involved_in protein import into peroxisome matrix, docking  
involved_in protein import into peroxisome matrix, docking  
involved_in protein import into peroxisome matrix, receptor recycling  
involved_in protein import into peroxisome matrix, receptor recycling  
involved_in protein import into peroxisome matrix, substrate release  
involved_in protein import into peroxisome matrix, substrate release  
involved_in protein import into peroxisome matrix, translocation  
involved_in protein import into peroxisome membrane  
involved_in protein import into peroxisome membrane  
involved_in protein targeting to peroxisome  
involved_in protein targeting to peroxisome PubMed 
acts_upstream_of_or_within protein targeting to peroxisome PubMed 
involved_in protein tetramerization  
acts_upstream_of_or_within very long-chain fatty acid metabolic process PubMed 
Items 1 - 25 of 38
Component Evidence Code Pubs
located_in Golgi apparatus  
located_in Golgi apparatus  
located_in cytoplasm  
is_active_in cytosol  
is_active_in cytosol  
located_in cytosol  
is_active_in cytosol  
located_in cytosol  
located_in membrane  
located_in membrane  
located_in mitochondrion  
is_active_in peroxisomal matrix  
located_in peroxisomal matrix  
is_active_in peroxisomal matrix  
is_active_in peroxisomal membrane  
located_in peroxisomal membrane  
located_in peroxisome PubMed 
part_of protein-containing complex  
part_of protein-containing complex  

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)

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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_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)
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