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peroxin-5; peroxisomal targeting signal 1 receptor; PTS1 receptor; PTS1R; peroxisome receptor 1; peroxisomal C-terminal targeting signal import receptor; PTS1-BP; (PEX5, PXR1)
Function:
1) binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) & plays an essential role in peroxisomal protein import
2) interacts with PEX7 & PEX13 (putative)
3) interacts with PEX12 & PEX14
Structure:
- belongs to the peroxisomal targeting signal receptor family
- contains 7 TPR repeats
Compartment:
- cytoplasm
- peroxisome membrane
- peripheral membrane protein
- distribution appears to be dynamic
- it is probably a cycling receptor found mainly in the cytoplasm but associated with the peroxisomal membrane through a docking factor (PEX13)
Alternative splicing: named isoforms=3
Expression:
- detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney & pancreas
Pathology:
- defects in PEX5 are a cause of
a) neonatal adrenoleukodystrophy
b) Zellweger syndrome
- defects in PEX5 may be a cause of infantile Refsum disease
Related
neonatal adrenoleukodystrophy
PEX5 (peroxisomal targeting signal 1 receptor) gene
General
peroxisomal membrane protein (peroxin)
receptor
Properties
SIZE: entity length = 639 aa
MW = 71 kD
COMPARTMENT: peroxisome
cytoplasm
MOTIF: tetratricopeptide repeat {335-368}
tetratricopeptide repeat {369-402}
tetratricopeptide repeat {403-436}
tetratricopeptide repeat {452-485}
tetratricopeptide repeat {488-521}
tetratricopeptide repeat {522-555}
tetratricopeptide repeat {556-589}
Database Correlations
OMIM correlations
MORBIDMAP 600414
UniProt P50542
Pfam PF00515
Entrez Gene 5830
References
- UniProt :accession P50542
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX5