peroxisomal membrane protein 1; peroxisome biogenesis factor 1; peroxin-1; peroxisome biogenesis disorder protein 1 (PEX1)

Function

• required for stability of PEX5 & protein import into the peroxisome matrix
• anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes
• phosphorylated upon DNA damage, probably by ATM or ATR
• interacts directly with PEX6
• interacts indirectly with PEX26, via its interaction with PEX6

Structure

belongs to the AAA ATPase family

Compartment

cytoplasm, peroxisome membrane

Pathology

• defects in PEX1 are the cause of peroxisome biogenesis disorder complementation group 1
• defects in PEX1 are a cause of
  • neonatal adrenoleukodystrophy
  • infantile Refsum disease

Laboratory

• PEX1 gene mutation

More general terms

• peroxisomal membrane protein (peroxin)
• adenosine triphosphatase (ATPase)
• phosphoprotein

Additional terms

• peroxisomal biogenesis disorder
• peroxisome
• Refsum disease infantile form

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5189
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5189
• OMIM: https://mirror.omim.org/entry/202370
• OMIM: https://mirror.omim.org/entry/266510
• OMIM: https://mirror.omim.org/entry/601539
• OMIM: https://mirror.omim.org/entry/602136
• UniProt: http://www.uniprot.org/uniprot/O43933.html