Peroxisomal Membrane Protein 1

From Anvita Health Wiki

Contents 1 Function 2 Structure 3 Compartment 4 Pathology 5 More General Terms 6 Additional Terms 7 Internet Database 8 References

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

More General Terms

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

Additional Terms

• peroxisomal biogenesis disorder
• peroxisome
• Refsum disease infantile form

Internet Database

Entrez gene: 5189
Kegg: [1]
OMIM: 202370
OMIM: 266510
OMIM: 601539
OMIM: 602136
Prosite: [2]
UniProt: [3]

References

1. UniProt [4]
2. GeneReviews [5]
3. dbPEX, PEX gene Database [6]

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