PEX1 (NM_000466) - peroxisomal biogenesis factor 1
Peroxisome Biogenesis Factor 1 Isoform 1
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Protein
Kinases
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PTM Interaction Network Visualisation
Protein summary
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].
- Strand
- -
- Chromosome
- 7
- Protein
- 1283 residues
- All mutations
- 255
- PTM sites
- 49
- CDS
- 92,116,770 - 92,157,749
- Transcription
- 92,116,336 - 92,157,845
Usage summary
Network
PTM site
Kinases group
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Kinase, PTM site or protein
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