PEX1
| Peroxisome biogenesis factor 1 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | PEX1 ; ZWS1 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 27006 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE PEX1 204873 at tn.png | |||||||||||
| File:PBB GE PEX1 215023 s at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
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]
References
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.
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