Pex7 peroxisomal biogenesis factor 7 [Mus musculus (house mouse)] - Gene

Summary

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. Involved in protein import into peroxisome matrix. Acts upstream of or within several processes, including endochondral ossification; fatty acid beta-oxidation; and protein targeting to peroxisome. 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 Peroxisome biogenesis disorder 9B and rhizomelic chondrodysplasia punctata type 1. Orthologous to human PEX7 (peroxisomal biogenesis factor 7). [provided by Alliance of Genome Resources, Nov 2024]
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

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_000076.7 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?

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.
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.
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)

Endonuclease-mediated (5)
Targeted (4) 1 citation

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	IEA Inferred from Electronic Annotation more info
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 peroxisome matrix targeting signal-2 binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein homodimerization activity	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
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
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
acts_upstream_of_or_within protein targeting to peroxisome	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
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
located_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 peroxisomal matrix	ISO Inferred from Sequence Orthology more info
is_active_in peroxisomal matrix	ISS Inferred from Sequence or Structural Similarity 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)

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 ...
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]