Pex13 peroxisomal biogenesis factor 13 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pex13provided by MGI
Official Full Name: peroxisomal biogenesis factor 13provided by MGI
Primary source: MGI:MGI:1919379
See related: Ensembl:ENSMUSG00000020283 AllianceGenome:MGI:1919379
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: 2610008O20Rik
Summary: Predicted to enable protein transmembrane transporter activity. Acts upstream of or within several processes, including fatty acid alpha-oxidation; microtubule-based peroxisome localization; and nervous system development. Located in peroxisomal membrane. Is expressed in brain and liver. Human ortholog(s) of this gene implicated in Peroxisome biogenesis disorder 11B and peroxisome biogenesis disorder 11A. Orthologous to human PEX13 (peroxisomal biogenesis factor 13). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis adult (RPKM 13.1), adrenal adult (RPKM 11.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 A3.2; 11 14.34 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (23597283..23615883, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (23646843..23665883, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

PEX13 is required for thermogenesis of white adipose tissue in cold-exposed mice.
Title: PEX13 is required for thermogenesis of white adipose tissue in cold-exposed mice.
Hepatocyte-specific deletion of peroxisomal protein PEX13 results in disrupted iron homeostasis.
Title: Hepatocyte-specific deletion of peroxisomal protein PEX13 results in disrupted iron homeostasis.
An increasing reactive gliosis in the PEX13 mutant brain started at E14.5 in association with the pathology
Title: Impaired neurogenesis and associated gliosis in mouse brain with PEX13 deficiency.
PEX13 deficiency leads to mitochondria-mediated oxidative stress, neuronal cell death and impairment of cerebellar development.
Title: PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress.
gene structure, tissue expression, and localization of the protein to peroxisomes
Title: Pex13, the mouse ortholog of the human peroxisome biogenesis disorder PEX13 gene: gene structure, tissue expression, and localization of the protein to peroxisomes.
pex13 has a role in peroxisome biogenesis and its disruption in mice causes a Zellweger syndrome phenotype
Title: Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype.

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Variation

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Alleles

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

Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC166343P1 (e-PCR)
- UniSTS:271581

PMC166343P2 (e-PCR)
- UniSTS:271582

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables peroxisome targeting sequence binding	TAS Traceable Author Statement more info	PubMed
enables protein transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables protein transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
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 fatty acid alpha-oxidation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within microtubule-based peroxisome localization	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 protein import into peroxisome matrix, docking	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein import into peroxisome matrix, docking	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein import into peroxisome matrix, docking	ISO Inferred from Sequence Orthology more info
involved_in protein import into peroxisome matrix, docking	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein import into peroxisome matrix, translocation	IEA Inferred from Electronic Annotation more info
involved_in protein import into peroxisome matrix, translocation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within suckling behavior	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of peroxisomal importomer complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in peroxisomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisomal membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in peroxisomal membrane	ISO Inferred from Sequence Orthology more info
located_in peroxisomal membrane	ISO Inferred from Sequence Orthology more info
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisome	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: peroxisomal membrane protein PEX13

Names: peroxin-13

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_023651.5 → NP_076140.2 peroxisomal membrane protein PEX13

See identical proteins and their annotated locations for NP_076140.2

Status: VALIDATED

Source sequence(s)

AL672049

Consensus CDS

CCDS24478.1

UniProtKB/Swiss-Prot

Q3U5T1, Q8CCJ5, Q8CCW5, Q99MM2, Q9D0K1, Q9EPK1

Related

ENSMUSP00000020523.4, ENSMUST00000020523.4

Conserved Domains (2) summary

cd11864
Location:278 → 335

SH3_PEX13_eumet; Src Homology 3 domain of eumetazoan Peroxisomal biogenesis factor 13

pfam04088
Location:113 → 256

Peroxin-13_N; Peroxin 13, N-terminal region