PEX1

From Wikipedia, the free encyclopedia
Peroxisomal biogenesis factor 1
Identifiers
SymbolsPEX1; PBD1A; PBD1B; ZWS; ZWS1
External IDsOMIM: 602136 MGI: 1918632 HomoloGene: 27006 GeneCards: PEX1 Gene
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez518971382
EnsemblENSG00000127980ENSMUSG00000005907
UniProtO43933Q5BL07
RefSeq (mRNA)NM_000466NM_027777
RefSeq (protein)NP_000457NP_082053
Location (UCSC)Chr 7:
92.12 – 92.16 Mb
Chr 5:
3.6 – 3.64 Mb
PubMed search

Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the PEX1 gene.[1]

This gene encodes a member of the AAA protein 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.[1]

Interactions

PEX1 has been shown to interact with PEX6[2][3] and PEX26.[4]

References

  1. 1.0 1.1 "Entrez Gene: PEX1 peroxisome biogenesis factor 1". 
  2. Tamura, S; Shimozawa N, Suzuki Y, Tsukamoto T, Osumi T, Fujiki Y (Apr 1998). "A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p". Biochem. Biophys. Res. Commun. (UNITED STATES) 245 (3): 883–6. doi:10.1006/bbrc.1998.8522. ISSN 0006-291X. PMID 9588209. 
  3. Geisbrecht, B V; Collins C S, Reuber B E, Gould S J (Jul 1998). "Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 95 (15): 8630–5. doi:10.1073/pnas.95.15.8630. ISSN 0027-8424. PMC 21127. PMID 9671729. 
  4. Matsumoto, Naomi; Tamura Shigehiko, Fujiki Yukio (May 2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes". Nat. Cell Biol. (England) 5 (5): 454–60. doi:10.1038/ncb982. ISSN 1465-7392. PMID 12717447. 

Further reading

External links


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