Pex1 peroxisomal biogenesis factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pex1provided by MGI
Official Full Name: peroxisomal biogenesis factor 1provided by MGI
Primary source: MGI:MGI:1918632
See related: Ensembl:ENSMUSG00000005907 AllianceGenome:MGI:1918632
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: ZWS1; 5430414H02Rik; E330005K07Rik
Summary: Predicted to enable ATP binding activity; ATP hydrolysis activity; and protein C-terminus binding activity. Predicted to be involved in protein import into peroxisome matrix. Predicted to act upstream of or within microtubule-based peroxisome localization. Located in peroxisome. Used to study Zellweger syndrome. Human ortholog(s) of this gene implicated in Heimler syndrome 1; infantile Refsum disease; and peroxisome biogenesis disorder 1A. Orthologous to human PEX1 (peroxisomal biogenesis factor 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 4.3), CNS E14 (RPKM 3.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 A1; 5 2.26 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (3646066..3687230)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (3596066..3637230)

Chromosome 5 - NC_000071.7 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?

Loss of Pex1 in Inner Ear Hair Cells Contributes to Cochlear Synaptopathy and Hearing Loss.
Title: Loss of Pex1 in Inner Ear Hair Cells Contributes to Cochlear Synaptopathy and Hearing Loss.
PEX1 is a mediator of alpha1-adrenergic signaling attenuating doxorubicin-induced cardiotoxicity.
Title: PEX1 is a mediator of α1-adrenergic signaling attenuating doxorubicin-induced cardiotoxicity.
functions as a protein unfoldase in peroxisomal biogenesis, using its N-terminal putative adaptor-binding domain
Title: Structure of the N-terminal domain of PEX1 AAA-ATPase. Characterization of a putative adaptor-binding domain.
crystal structure of pex1
Title: Crystallographic characterization of the N-terminal domain of PEX1.

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Variation

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Alleles

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

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

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 ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein transporter activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin-modified protein reader activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within microtubule-based peroxisome localization	ISO Inferred from Sequence Orthology more info
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
involved_in protein import into peroxisome matrix	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 targeting to peroxisome	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
involved_in protein unfolding	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in peroxisomal membrane	IBA Inferred from Biological aspect of Ancestor more info
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

General protein information

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Preferred Names: peroxisomal ATPase PEX1

Names: peroxin-1; peroxisome biogenesis factor 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_001293806.1 → NP_001280735.1 peroxisomal ATPase PEX1 isoform 1

See identical proteins and their annotated locations for NP_001280735.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK017309, BC090845, DV646280

Consensus CDS

CCDS80201.1

UniProtKB/Swiss-Prot

Q3UEC7, Q5BL07, Q9CU85

Related

ENSMUSP00000113304.2, ENSMUST00000121291.8

Conserved Domains (4) summary

smart00382
Location:878 → 1010

AAA; ATPases associated with a variety of cellular activities

pfam00004
Location:878 → 1007

AAA; ATPase family associated with various cellular activities (AAA)

pfam09262
Location:104 → 179

PEX-1N; Peroxisome biogenesis factor 1, N-terminal

pfam09263
Location:19 → 98

PEX-2N; Peroxisome biogenesis factor 1, N-terminal
NM_027777.2 → NP_082053.1 peroxisomal ATPase PEX1 isoform 2

See identical proteins and their annotated locations for NP_082053.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.

Source sequence(s)

AK017309, BC090845

Consensus CDS

CCDS19065.1

UniProtKB/Swiss-Prot

Q5BL07

Related

ENSMUSP00000006061.7, ENSMUST00000006061.13

Conserved Domains (4) summary

smart00382
Location:838 → 970

AAA; ATPases associated with a variety of cellular activities

pfam00004
Location:838 → 967

AAA; ATPase family associated with various cellular activities (AAA)

pfam09262
Location:104 → 179

PEX-1N; Peroxisome biogenesis factor 1, N-terminal

pfam09263
Location:19 → 98

PEX-2N; Peroxisome biogenesis factor 1, N-terminal

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

NC_000071.7 Reference GRCm39 C57BL/6J

Range

3646066..3687230

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017321100.3 → XP_017176589.1 peroxisomal ATPase PEX1 isoform X1

Conserved Domains (3) summary

TIGR01243
Location:596 → 1061

CDC48; AAA family ATPase, CDC48 subfamily

pfam09262
Location:104 → 179

PEX-1N; Peroxisome biogenesis factor 1, N-terminal

pfam09263
Location:17 → 98

PEX-2N; Peroxisome biogenesis factor 1, N-terminal
XM_006503607.3 → XP_006503670.1 peroxisomal ATPase PEX1 isoform X2

Conserved Domains (1) summary

TIGR01243
Location:436 → 901

CDC48; AAA family ATPase, CDC48 subfamily
XM_017321101.3 → XP_017176590.1 peroxisomal ATPase PEX1 isoform X3

Conserved Domains (1) summary

TIGR01243
Location:121 → 586

CDC48; AAA family ATPase, CDC48 subfamily

RNA

XR_001784746.3 RNA Sequence
XR_004942562.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_177211.1: Suppressed sequence

Description

NM_177211.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.