Pex1 MGI Mouse Gene Detail - MGI:1918632 - peroxisomal biogenesis factor 1

Symbol

Pex1
Name

peroxisomal biogenesis factor 1
Synonyms

5430414H02Rik, E330005K07Rik, peroxisome biogenesis factor 1, ZWS1

Feature Type

protein coding gene
IDs

MGI:1918632
NCBI Gene: 71382
Alliance

genome feature page
Transcription Start Sites

2 TSS

Sequence Map

Chr5:3646066-3687230 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 2.26 cM, cytoband A2
Mapping Data

2 experiments

SNPs within 2kb

1054 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1918632	protein coding gene	Chr5:3646066-3687232 (+)
129S1/SvImJ	ENSMUSG00200002232	protein coding gene	Chr5:242773-283790 (+)
A/J	ENSMUSG00195007181	protein coding gene	Chr5:311195-352243 (+)
AKR/J	ENSMUSG00220001987	protein coding gene	Chr5:242831-283884 (+)
BALB/cJ	ENSMUSG00180015492	protein coding gene	Chr5:72371-113393 (+)
C3H/HeJ	ENSMUSG00175026531	protein coding gene	Chr5:248022-289077 (+)
C57BL/6NJ	ENSMUSG00215012487	protein coding gene	Chr5:552063-593112 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026933	protein coding gene	Chr5:336044-373258 (+)
CAST/EiJ	ENSTCUG00005001523	protein coding gene	Chr5:464210-503868 (+)
CBA/J	ENSMUSG00210002364	protein coding gene	Chr5:612710-653759 (+)
DBA/2J	ENSMUSG00185027608	protein coding gene	Chr5:616352-657402 (+)
FVB/NJ	ENSMUSG00205006673	protein coding gene	Chr5:311121-352152 (+)
JF1/MsJ	ENSUMUG00000001284	protein coding gene	Chr5:632417-672161 (+)
LP/J	ENSMUSG00230003015	protein coding gene	Chr5:4487318-4528338 (+)
NOD/ShiLtJ	ENSMUSG00190011284	protein coding gene	Chr5:246955-286697 (+)
NZO/HlLtJ	ENSMUSG00225006481	protein coding gene	Chr5:8322853-8363904 (+)
PWK/PhJ	ENSLUMG00010019382	protein coding gene	Chr5:596962-638881 (+)
SPRET/EiJ	ENSMSPG00010004823	protein coding gene	Chr5:438785-483874 (+)
WSB/EiJ	ENSIUOG00005025279	protein coding gene	Chr5:305814-347400 (+)

Human Ortholog

PEX1, peroxisomal biogenesis factor 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PEX1, peroxisomal biogenesis factor 1
Synonyms

HMLR1, PBD1A, PBD1B, ZWS, ZWS1
Links

HGNC:8850

NCBI Gene ID: 5189

UniProt: O43933
Chr Location

7q21.2; chr7:92487020-92528640 (-) GRCh38

MGI Vertebrate Homology

Pex1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PEX1
Gene Tree

Pex1

Diseases

1 with Pex1 mouse models; 3 with human PEX1 associations

Human Disease

Mouse Models

Zellweger syndrome

IDs

View 2 models

Heimler syndrome 1

IDs

peroxisome biogenesis disorder 1A

IDs

peroxisome biogenesis disorder 1B

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

2 with disease annotations

References

2 with disease annotations

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Phenotype Summary

45 phenotypes from 3 alleles in 3 genetic backgrounds
17 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

13
Endonuclease-mediated

4
Gene trapped

3
Targeted

6
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

55 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-in allele display premature death, postnatal growth retardation, fatty livers, a bile acid defect associated with intestinal lipid malabsorption and cholestasis, and a retinopathy associated with retinal cone cell degenerationand abnormal cone and rod electrophysiology.

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All GO Annotations

53
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

597
cDNA Data

10
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pex1

ZFIN pex1

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All Sequences

71
RefSeq

12
UniProt

7
CCDS

CCDS19065.1, CCDS80201.1

Ensembl

ENSMUSG00000005907 (Evidence)
NCBI Gene

71382

			Length	Strain/Species	Flank
genomic	71382	NCBI Gene Model \| MGI Sequence Detail	41165	C57BL/6J	± kb
transcript	NM_001293806	RefSeq \| MGI Sequence Detail	4553	C57BL/6
polypeptide	Q5BL07	UniProt \| EBI \| MGI Sequence Detail	1284	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000012553 peroxisomal ATPase PEX1

(term hierarchy)
PDB

1WLF
EC

3.6.4.-
InterPro Domains

IPR041569 AAA ATPase, AAA+ lid domain

IPR003593 AAA+ ATPase domain

IPR050168 AAA ATPase domain-containing protein

IPR009010 Aspartate decarboxylase-like domain superfamily

IPR003960 ATPase, AAA-type, conserved site

IPR003959 ATPase, AAA-type, core

IPR029067 CDC48 domain 2-like superfamily

IPR015342 Peroxisomal ATPase PEX1, N-terminal C-lobe

IPR015343 Peroxisomal ATPase PEX1, N-terminal N-lobe

IPR027417 P-loop containing nucleoside triphosphate hydrolase
GlyGen

Q5BL07 1 site, 1 N-linked glycan (1 site)

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All nucleic 10

cDNA 10

Microarray probesets 7

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MGI:2444380

Summaries

All 51

Developmental Gene Expression 1

Diseases 2

Gene Ontology 10

Phenotypes 17
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:386815 Gao XD, et al., In vivo base editing rescues liver pathophysiology and peroxisome dysfunction in a mouse model of Zellweger spectrum disorder. Nat Biomed Eng. 2026 Apr 14;

TSS for Pex1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr45061	Chr5:3646204-3646256 (+)	164 bp
Tssr45062	Chr5:3646306-3646393 (+)	284 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/08/2026 MGI 6.24