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

• binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) & plays an essential role in peroxisomal protein import
• interacts with PEX7 & PEX13 (putative)
• 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
  • neonatal adrenoleukodystrophy
  • Zellweger syndrome
• defects in PEX5 may be a cause of infantile Refsum disease

More general terms

• peroxisomal membrane protein (peroxin)
• receptor

Additional terms

• neonatal adrenoleukodystrophy

Database

• UniProt: http://www.uniprot.org/uniprot/P50542.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5830
• OMIM: https://mirror.omim.org/entry/202370
• OMIM: https://mirror.omim.org/entry/214100
• OMIM: https://mirror.omim.org/entry/266510
• OMIM: https://mirror.omim.org/entry/600414