PEX1: Peroxisomal Biogenesis Factor 1

Essential for peroxisome assembly and function; mutations cause Zellweger spectrum disorders

Gene Information Card

Symbol PEX1
Full Name Peroxisomal Biogenesis Factor 1
Gene Type Protein coding
Chromosomal Location 7q21.2
NCBI Gene ID 5189 ncbi.nlm.nih.gov/gene/5189
Ensembl ID ENSG00000127990
UniProt ID O43933
OMIM ID 602136
HGNC ID 8850
Aliases PBD1A, PBD1B, ZWS1, ZWS2, PAF-1, PEX1-1, PEX1-2

Description

PEX1 encodes a member of the AAA ATPase family, peroxisomal biogenesis factor 1, which is essential for peroxisome assembly. The protein forms a heteromeric complex with PEX6 and is involved in the import of peroxisomal matrix proteins by recycling the peroxisomal targeting signal receptor PEX5 from the peroxisomal membrane to the cytosol. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders (PBDs), including Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease, collectively known as Zellweger spectrum disorders.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Zellweger syndrome (ZS) Loss of PEX1 function disrupts peroxisomal matrix protein import, leading to severe peroxisomal dysfunction and accumulation of very long-chain fatty acids. ClinVar, OMIM
Neonatal adrenoleukodystrophy (NALD) Partial loss of PEX1 function results in milder peroxisomal impairment compared to ZS. ClinVar, OMIM
Infantile Refsum disease (IRD) Mild PEX1 mutations cause residual peroxisomal function, leading to a less severe phenotype. ClinVar, OMIM
Peroxisome biogenesis disorder 1A (PBD1A) Biallelic PEX1 mutations impair peroxisome assembly, causing a spectrum of clinical severity. OMIM
Peroxisome biogenesis disorder 1B (PBD1B) Similar to PBD1A but with distinct allelic variants. OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 10.2 Medium
Kidney 8.5 Medium
Brain 6.1 Low
Heart 5.3 Low
Testis 4.8 Low
Cell Line Expression
Cell Line nTPM Notes
HepG2 12.1 Hepatocyte cell line
HEK 293 9.4 Embryonic kidney cell line
SH-SY5Y 7.2 Neuroblastoma cell line
HeLa 6.8 Cervical cancer cell line
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.2097dupT (p.Ile700Tyrfs*42) Frameshift Common in Zellweger syndrome Loss of function
c.2528G>A (p.Gly843Asp) Missense Frequent in milder PBD Partial loss of function
c.2916delA (p.Glu973Lysfs*3) Frameshift Rare Loss of function
c.1777G>A (p.Gly593Arg) Missense Rare Loss of function
Mutation functional classification

Loss of Function (LOF)

Most PEX1 mutations result in loss of function, leading to impaired peroxisomal matrix protein import and severe peroxisomal dysfunction.

Gain of Function (GOF)

No gain-of-function mutations have been reported for PEX1.

Dominant Negative (DN)

No dominant-negative mutations have been described; PEX1-associated disorders are autosomal recessive.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/5189
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=PEX1

Gene Ontology (GO)

• ATP binding • ATP hydrolysis activity
• peroxisome organization • protein import into peroxisome matrix
• peroxisomal membrane • cytosol

Pathways

• Peroxisomal protein import
• Peroxisome biogenesis

Protein Summary

PEX1 is a 1283-amino acid AAA ATPase that localizes to the peroxisomal membrane. It forms a heterohexameric complex with PEX6 and is anchored to the membrane via PEX26. The complex provides the energy required for the recycling of PEX5, the receptor for peroxisomal targeting signal type 1 (PTS1)-containing proteins. Without functional PEX1, PEX5 accumulates on the peroxisomal membrane, blocking further import of matrix proteins and leading to peroxisomal dysfunction.

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Related Products

Product name Cat.No. Species Gene ID
PEX14 Knockout HEK293 Cell Line EDJ-KQ3349 Human 5195 Details Get a Quote
PEX10 Knockout HEK293 Cell Line EDJ-KQ5440 Human 5192 Details Get a Quote
PEX13 Knockout HEK293 Cell Line EDJ-KQ5442 Human 5194 Details Get a Quote
PEX1 Knockout HEK293 Cell Line EDJ-KQ5444 Human 5189 Details Get a Quote
PEX19 Knockout HEK293 Cell Line EDJ-KQ5611 Human 5824 Details Get a Quote
PEX11B Knockout HEK293 Cell Line EDJ-KQ6365 Human 8799 Details Get a Quote
PEX11A Knockout HEK293 Cell Line EDJ-KQ6366 Human 8800 Details Get a Quote
PEX11G Knockout HEK293 Cell Line EDJ-KQ11123 Human 92960 Details Get a Quote
PEX14 Knockout A-549 Cell Line EDJ-KQ25004 Human 5195 Details Get a Quote
PEX14 Knockout HCT 116 Cell Line EDJ-KQ25005 Human 5195 Details Get a Quote
PEX14 Knockout HeLa Cell Line EDJ-KQ25006 Human 5195 Details Get a Quote
PEX11B Knockout A-549 Cell Line EDJ-KQ29021 Human 8799 Details Get a Quote
PEX11G Knockout A-549 Cell Line EDJ-KQ39104 Human 92960 Details Get a Quote
PEX13 Knockout HeLa Cell Line EDJ-KQ27381 Human 5194 Details Get a Quote
PEX10 Knockout A-549 Cell Line EDJ-KQ28623 Human 5192 Details Get a Quote
Displaying Records 1 To 15 Of 36 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/5189
OMIM https://www.omim.org/entry/602136
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8850
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000127990
UniProt https://www.uniprot.org/uniprot/O43933
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=PEX1%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=PEX1
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