PEX1

Chr 7q21.2

peroxisomal biogenesis factor 1

MANE:: ENST00000248633.9

OMIM: 602136 ↗NCBI: 5189 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PEX1 · O43933

v62025-08-01

Predicted Aligned Error matrix for PEX1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.0/ 100

Low

1,283 residues

Confidence breakdown

Very high(≥ 90)8%
Confident(70–90)50%
Low(50–70)18%
Very low(< 50)24%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset leukodystrophy
BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal
Cholestasis
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops
BIALLELIC, autosomal or pseudoautosomal

+12 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

Zellweger syndrome
0.83
peroxisome biogenesis disorder 1A (Zellweger)
0.81
peroxisome biogenesis disorder
0.80
peroxisome biogenesis disorder 1B
0.80
Zellweger spectrum disorders
0.73
peroxisomal disease
0.66
peroxisome biogenesis disorder due to PEX1 defect
0.65
Peroxisome biogenesis disorder-Zellweger syndrome spectrum
0.62
Retinal dystrophy
0.53
hereditary disease
0.52

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Peroxisomal ATPase PEX1

Component of the PEX1-PEX6 AAA ATPase complex, a protein dislocase complex that mediates the ATP-dependent extraction of the PEX5 receptor from peroxisomal membranes, an essential step for PEX5 recycling (PubMed:11439091, PubMed:16314507, PubMed:16854980, PubMed:21362118, PubMed:29884772). Specifically recognizes PEX5 monoubiquitinated at 'Cys-11', and pulls it out of the peroxisome lumen through the PEX2-PEX10-PEX12 retrotranslocation channel (PubMed:29884772). Extraction by the PEX1-PEX6 AAA ATPase complex is accompanied by unfolding of the TPR repeats and release of bound cargo from PEX5 (PubMed:29884772)