PEX1

Peroxisomal biogenesis factor 1
Identifiers
Symbols	PEX1 ; PBD1A; PBD1B; ZWS; ZWS1
External IDs	OMIM: 602136 MGI: 1918632 HomoloGene: 27006 GeneCards: PEX1 Gene
Gene ontology Molecular function • protein binding • ATP binding • protein C-terminus binding • protein complex binding • ATPase activity, coupled Cellular component • cytoplasm • peroxisome • peroxisomal membrane • cytosol • intracellular membrane-bounded organelle • extracellular exosome Biological process • protein targeting to peroxisome • peroxisome organization • metabolic process • protein import into peroxisome matrix • microtubule-based peroxisome localization Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5189	71382
Ensembl	ENSG00000127980	ENSMUSG00000005907
UniProt	O43933	Q5BL07
RefSeq (mRNA)	NM_000466	NM_001293806
RefSeq (protein)	NP_000457	NP_001280735
Location (UCSC)	Chr 7: 92.49 – 92.53 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. "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

• 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. doi:10.1007/BF00210677. 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. PMC 108805. 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. doi:10.1073/pnas.95.8.4350. PMC 22492. 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. doi:10.1073/pnas.95.15.8630. PMC 21127. 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. doi:10.1042/0264-6021:3570417. PMC 1221968. 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. doi:10.1203/00006450-200206000-00008. PMID 12032265.
• 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.
• 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. PMC 2882961. 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. ISBN 1-59259-394-1. PMID 12840548. |chapter= ignored (help)
• 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.

External links

• GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
• OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum