PEX1

From Wikipedia, the free encyclopedia

Peroxisome biogenesis factor 1

Identifiers

PEX1; ZWS1

External IDs

OMIM: 602136 MGI: 1918632 HomoloGene: 27006

Gene ontology
Molecular Function:	• nucleotide binding • ATP binding • nucleoside-triphosphatase activity • ATPase activity, coupled
Cellular Component:	• peroxisome • membrane
Biological Process:	• peroxisome organization and biogenesis • protein transport

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_000466 (mRNA)
NP_000457 (protein)

NM_027777 (mRNA)
NP_082053 (protein)

Location

Pubmed search

Peroxisome biogenesis factor 1, also known as PEX1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: PEX1 peroxisome biogenesis factor 1.

[edit] Further reading

Wanders RJ (2004). "Metabolic and molecular basis of peroxisomal disorders: a review.". Am. J. Med. Genet. A 126 (4): 355–75. doi:10.1002/ajmg.a.20661. PMID 15098234.
Crane DI, Maxwell MA, Paton BC (2006). "PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.". Hum. Mutat. 26 (3): 167–75. doi:10.1002/humu.20211. PMID 16086329.
Naritomi K, Izumikawa Y, Ohshiro S, et al. (1990). "Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7.". Hum. Genet. 84 (1): 79–80. PMID 2606480.
Reuber BE, Germain-Lee E, Collins CS, et al. (1997). "Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.". Nat. Genet. 17 (4): 445–8. doi:10.1038/ng1297-445. PMID 9398847.
Portsteffen H, Beyer A, Becker E, et al. (1997). "Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.". Nat. Genet. 17 (4): 449–52. doi:10.1038/ng1297-449. PMID 9398848.
Faber KN, Heyman JA, Subramani S (1998). "Two AAA family peroxins, PpPex1p and PpPex6p, interact with each other in an ATP-dependent manner and are associated with different subcellular membranous structures distinct from peroxisomes.". Mol. Cell. Biol. 18 (2): 936–43. PMID 9447990.
Tamura S, Okumoto K, Toyama R, et al. (1998). "Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.". Proc. Natl. Acad. Sci. U.S.A. 95 (8): 4350–5. PMID 9539740.
Tamura S, Shimozawa N, Suzuki Y, et al. (1998). "A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p.". Biochem. Biophys. Res. Commun. 245 (3): 883–6. doi:10.1006/bbrc.1998.8522. PMID 9588209.
Geisbrecht BV, Collins CS, Reuber BE, Gould SJ (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. 95 (15): 8630–5. PMID 9671729.
Collins CS, Gould SJ (1999). "Identification of a common PEX1 mutation in Zellweger syndrome.". Hum. Mutat. 14 (1): 45–53. doi:10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J. PMID 10447258.
Tamura S, Matsumoto N, Imamura A, et al. (2001). "Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.". Biochem. J. 357 (Pt 2): 417–26. PMID 11439091.
Preuss N, Brosius U, Biermanns M, et al. (2002). "PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.". Pediatr. Res. 51 (6): 706–14. PMID 12032265.
Cha H, Kopetzki E, Huber R, et al. (2002). "Structural basis of the adaptive molecular recognition by MMP9.". J. Mol. Biol. 320 (5): 1065–79. PMID 12126625.
Maxwell MA, Allen T, Solly PB, et al. (2003). "Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.". Hum. Mutat. 20 (5): 342–51. doi:10.1002/humu.10128. PMID 12402331.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology.". Science 300 (5620): 767–72. doi:10.1126/science.1083423. PMID 12690205.
Matsumoto N, Tamura S, Fujiki Y (2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.". Nat. Cell Biol. 5 (5): 454–60. doi:10.1038/ncb982. PMID 12717447.
Dodt G, Walter C (2004). "Study of mutant proteins with folding defects in cultured patient cells.". Methods Mol. Biol. 232: 165–73. doi:10.1385/1-59259-394-1:165. PMID 12840548.
Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.