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PEX1 (NM_001282678) - peroxisomal biogenesis factor 1

Peroxisome Biogenesis Factor 1 Isoform 3

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of PEX1 protein. View all 3 isoforms
PEX1: peroxisome biogenesis factor 1 isoform 3
Description:

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
1075 residues
All mutations
224
PTM sites
46
CDS
92,116,770 - 92,147,204
Transcription
92,116,336 - 92,157,845
33.4% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 5189
UniProt