PEX5

Chr 12p13.31

peroxisomal biogenesis factor 5

Aliases:: PTS1R
MANE:: ENST00000675855.1

OMIM: 600414 ↗NCBI: 5830 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PEX5 · P50542

v62025-08-01

Predicted Aligned Error matrix for PEX5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.9/ 100

Low

639 residues

Confidence breakdown

Very high(≥ 90)41%
Confident(70–90)11%
Low(50–70)15%
Very low(< 50)33%

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
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops
BIALLELIC, autosomal or pseudoautosomal
Inherited white matter disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

peroxisome biogenesis disorder 2A (Zellweger)
0.78
Zellweger syndrome
0.75
peroxisome biogenesis disorder 2B
0.75
Zellweger spectrum disorders
0.72
rhizomelic chondrodysplasia punctata type 5
0.72
Peroxisome biogenesis disorder-Zellweger syndrome spectrum
0.69
peroxisome biogenesis disorder
0.65
peroxisomal disease
0.60
peroxisome biogenesis disorder 1A (Zellweger)
0.37
peroxisome biogenesis disorder type 3B
0.37

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

Protein function (UniProt)

Peroxisomal targeting signal 1 receptor

Receptor that mediates peroxisomal import of proteins containing a C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) (PubMed:11101887, PubMed:11336669, PubMed:12456682, PubMed:16314507, PubMed:17157249, PubMed:17428317, PubMed:21976670, PubMed:26344566, PubMed:7706321, PubMed:7719337, PubMed:7790377). Binds to cargo proteins containing a PTS1 peroxisomal targeting signal in the cytosol, and translocates them into the peroxisome matrix by passing through the PEX13-PEX14 docking complex along with cargo proteins (PubMed:12456682, PubMed:17157249, PubMed:21976670, PubMed:26344566). PEX5 receptor is then retrotranslocated into the cytosol, leading to release of bound cargo in the peroxisome matrix, and reset for a subsequent peroxisome import cycle (PubMed:11336669, PubMed:24662292)