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

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 several functions, including peroxisome targeting sequence binding activity; protein C-terminus binding activity; and protein sequestering 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 peroxisomal matrix. Predicted to be part of protein-containing complex. Predicted to be active in cytosol and peroxisomal membrane. Is expressed in genitourinary system; inner ear; liver; and nervous system. 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, Apr 2022]
Expression: Ubiquitous expression in liver adult (RPKM 17.6), subcutaneous fat pad adult (RPKM 13.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SIRT3 improved peroxisomes-mitochondria interplay and prevented cardiac hypertrophy via preserving PEX5 expression.
Title: SIRT3 improved peroxisomes-mitochondria interplay and prevented cardiac hypertrophy via preserving PEX5 expression.
Pre-meiotic deletion of PEX5 causes spermatogenesis failure and infertility in mice.
Title: Pre-meiotic deletion of PEX5 causes spermatogenesis failure and infertility in mice.
Normal plasmalogen levels are maintained in tissues from mice with hepatocyte-specific deletion in peroxin 5.
Title: Normal plasmalogen levels are maintained in tissues from mice with hepatocyte-specific deletion in peroxin 5.
Aging lowers PEX5 levels in cortical neurons in male and female mouse brains.
Title: Aging lowers PEX5 levels in cortical neurons in male and female mouse brains.
A Novel FRET Approach Quantifies the Interaction Strength of Peroxisomal Targeting Signals and Their Receptor in Living Cells.
Title: A Novel FRET Approach Quantifies the Interaction Strength of Peroxisomal Targeting Signals and Their Receptor in Living Cells.
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.
Title: A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.
Association of Hsd17b4 with ceramide-enriched mitochondria-associated membranes prevents its interaction with peroxisomal import protein Pex5 at peroxisomes.
Title: Ceramide regulates interaction of Hsd17b4 with Pex5 and function of peroxisomes.
monoubiquitination of the N-terminal cysteine of peroxisome-associated PEX5 not only functions to recycle the peroxin back to the cytosol, but also serves as a quality control mechanism to eliminate peroxisomes with a defective protein import machinery
Title: Export-deficient monoubiquitinated PEX5 triggers peroxisome removal in SV40 large T antigen-transformed mouse embryonic fibroblasts.
Demyelination in cerebellum and brain stem preceded major myelin loss in corpus callosum of Pex5 deficient mice.
Title: Peroxisome deficiency but not the defect in ether lipid synthesis causes activation of the innate immune system and axonal loss in the central nervous system.
interaction of PEX5 with catalase and PEX14
Title: PEX5 protein binds monomeric catalase blocking its tetramerization and releases it upon binding the N-terminal domain of PEX14.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

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

Targeted (2) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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	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 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
acts_upstream_of_or_within cellular lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
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 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	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
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, docking	IBA Inferred from Biological aspect of Ancestor 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, substrate release	ISO Inferred from Sequence Orthology more info
involved_in protein import into peroxisome matrix, translocation	ISO Inferred from Sequence Orthology 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 protein transport	IEA Inferred from Electronic Annotation 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	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	TAS Traceable Author Statement more info
located_in membrane	ISO Inferred from Sequence Orthology more info
is_active_in peroxisomal matrix	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info

General protein information

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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)

NM_001277330.2 → NP_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:451 → 479

TPR; TPR repeat [structural motif]

cl26002
Location:311 → 546

TPR_11; TPR repeat
NM_001277805.2 → NP_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:348 → 583

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:488 → 516

TPR; TPR repeat [structural motif]

cl02686
Location:307 → 342

PRY; SPRY-associated domain
NM_001360570.2 → NP_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:451 → 479

TPR; TPR repeat [structural motif]

cl26002
Location:311 → 546

TPR_11; TPR repeat
NM_001410279.1 → NP_001397208.1 peroxisomal targeting signal 1 receptor isoform 1

Status: VALIDATED

Source sequence(s)

AC124470

UniProtKB/Swiss-Prot

O09012, Q3UM58, Q8K2V5, Q91YC7
NM_001410280.1 → NP_001397209.1 peroxisomal targeting signal 1 receptor isoform 1

Status: VALIDATED

Source sequence(s)

AC124470

UniProtKB/Swiss-Prot

O09012, Q3UM58, Q8K2V5, Q91YC7
NM_001410281.1 → NP_001397210.1 peroxisomal targeting signal 1 receptor isoform 3

Status: VALIDATED

Source sequence(s)

AC124470

UniProtKB/TrEMBL

D3Z600

Related

ENSMUSP00000108149.2, ENSMUST00000112530.8
NM_008995.3 → NP_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:348 → 583

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:488 → 516

TPR; TPR repeat [structural motif]

cl02686
Location:307 → 342

PRY; SPRY-associated domain
NM_175933.3 → NP_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:451 → 479

TPR; TPR repeat [structural motif]

cl26002
Location:311 → 546

TPR_11; TPR repeat