PEX1

This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]

Description

Peroxisomal biogenesis factor 1

Tissue specificity

Low tissue specificity

Subcell location

Peroxisomes

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

7 (92487020 - 92528520)

Ensembl ID

ENSG00000127980  (ver. 103.38)

Orthologs

Mouse Pex1: ENSMUSG00000005907

UniProt

O43933

neXtProt

NX_O43933

Human splice variants
Mouse splice variants

Protein structure