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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PEX5L
peroxisomal biogenesis factor 5 like
Chromosome 3 · 3q26.33
NCBI Gene: 51555Ensembl: ENSG00000114757.19HGNC: HGNC:30024UniProt: Q8IYB4
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
peroxisome targeting sequence bindingsmall GTPase bindingsignaling receptor complexprotein import into peroxisome matrix, dockingesophageal diseasetooth hard tissue diseasemultinodular goiterinsomnia
✦AI Summary

PEX5L (peroxisomal biogenesis factor 5 like) is the long isoform of PEX5, functioning as a critical receptor for peroxisomal protein import. As a cytosolic receptor, PEX5L recognizes and binds peroxisomal matrix proteins carrying peroxisomal targeting signals, particularly PTS2-targeted proteins, which distinguishes it from the shorter PEX5S isoform 1. Upon cargo binding, PEX5L is recruited to peroxisomal membranes where it interacts with the docking protein PEX14 and becomes integrated into the peroxisomal translocon complex 2. Mechanistically, PEX5L forms the pore-forming component of the oligomeric peroxisomal translocon, with membrane-bound PEX5L capable of forming ion-conducting channels that facilitate substrate translocation into the peroxisomal matrix 3, 2. Loss of PEX5L specifically causes rhizomelic chondrodysplasia punctata type 5 (RCDP5), characterized by selective deficiency in PTS2 protein import 4. Beyond peroxisomal function, PEX5L expression levels show prognostic significance in non-small cell lung cancer, with high expression associated with worse survival 5, and it contributes to a peroxisomal metabolic signature in colorectal cancer progression 6. Recent evidence indicates SARS-CoV-2 infection suppresses PEX5L expression in the central nervous system, potentially contributing to neurological complications of COVID-19 7.

Sources cited
1
PEX5L forms ion-conducting membrane channels and is the pore-forming component of the peroxisomal translocon
PMID: 36260915
2
PEX5L is the main receptor for peroxisomal targeting signal substrates and core component of dynamic translocation pores
PMID: 35977096
3
COVID-19 suppresses PEX5L transcripts and peroxisome biogenesis factors in the central nervous system
PMID: 37190821
4
PEX5L specifically mediates PTS2 protein import through interaction with PEX7, distinguishing it from PEX5S
PMID: 11546814
5
Mutations causing loss of PEX5L result in RCDP5 due to selective PTS2 import deficiency
PMID: 26220973
6
PEX5L variants and high expression levels predict worse survival in non-small cell lung cancer
PMID: 35502931
7
PEX5L is a risk-associated gene in peroxisomal metabolic reprogramming contributing to colorectal cancer progression
PMID: 40702462
Disease Associationsⓘ20
esophageal diseaseOpen Targets
0.40Weak
tooth hard tissue diseaseOpen Targets
0.39Weak
multinodular goiterOpen Targets
0.32Weak
insomniaOpen Targets
0.32Weak
tooth diseaseOpen Targets
0.32Weak
gastroesophageal reflux diseaseOpen Targets
0.32Weak
ovarian neoplasmOpen Targets
0.29Weak
neurodegenerative diseaseOpen Targets
0.28Weak
PainOpen Targets
0.26Weak
aneurysmOpen Targets
0.22Weak
adolescent idiopathic scoliosisOpen Targets
0.20Weak
disease of peritoneumOpen Targets
0.20Weak
retinopathyOpen Targets
0.17Weak
hidradenitisOpen Targets
0.04Suggestive
ependymomaOpen Targets
0.04Suggestive
childhood disintegrative disorderOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
astrocytomaOpen Targets
0.02Suggestive
temporal lobe epilepsyOpen Targets
0.02Suggestive
oligodendrogliomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PEX26Protein interaction96%RAB8BProtein interaction93%TRIM37Protein interaction92%HCN1Protein interaction90%HACL1Protein interaction90%PEX1Protein interaction90%
Tissue Expression6 tissues
Brain
100%
Ovary
1%
Bone Marrow
1%
Lung
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
PEX5LPEX26RAB8BTRIM37HCN1HACL1PEX1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IYB4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.53Moderately Constrained
pLIⓘ
0.89Intermediate
Observed/Expected LoF0.37 [0.26–0.53]
RankingsWhere PEX5L stands among ~20K protein-coding genes
  • #12,637of 20,598
    Most Researched27
  • #3,298of 17,882
    Most Constrained (LOEUF)0.53 · top quartile
Genes detectedPEX5L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Membrane binding and pore forming insertion of PEX5 into horizontal lipid bilayer.
PMID: 36260915
Biol Chem · 2023
1.00
2
Dynamics of the translocation pore of the human peroxisomal protein import machinery.
PMID: 35977096
Biol Chem · 2023
0.90
3
COVID-19 Induces Neuroinflammation and Suppresses Peroxisomes in the Brain.
PMID: 37190821
Ann Neurol · 2023
0.80
4
Domain mapping of human PEX5 reveals functional and structural similarities to Saccharomyces cerevisiae Pex18p and Pex21p.
PMID: 11546814
J Biol Chem · 2001
0.70
5
Affinity Purification of Soluble and Membrane-Bound Protein Complexes by a FlpIn Strategy.
PMID: 36952199
Methods Mol Biol · 2023
0.60