The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

PEX1  -  peroxisomal biogenesis factor 1

Homo sapiens

Synonyms: PBD1A, PBD1B, Peroxin-1, Peroxisome biogenesis disorder protein 1, Peroxisome biogenesis factor 1, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of PEX1


High impact information on PEX1


Biological context of PEX1


Anatomical context of PEX1


Associations of PEX1 with chemical compounds

  • The role of peroxisomes, in which the glyoxylate pathway enzymes are localized in many organisms, was examined by mutation of two genes (PEX1 and PEX6) encoding AAA (ATPases associated with various cellular activities)-type proteins required for peroxisome formation [18].
  • By mutational analysis, we demonstrate that a conserved arginine surrounded by hydrophobic residues is essential for lipid binding, despite very low sequence similarity between PEX1 and valosine-containing protein [19].
  • The N-terminal domain of PEX1 appears to preferentially bind phosphatidylinositol 3-monophosphate and phosphatidylinositol 4-monophosphate, whereas the N-terminal domain of valosine-containing protein displays broad and nonspecific lipid binding [19].
  • In bile of a patient with a peroxisome biogenesis disorder (Zellweger syndrome, ZS) LTE(4) was found to be slightly increased, whereas both omega-oxidation metabolites of LTE4, omega-hydroxy-LTE4 and omega-carboxy-LTE4, were highly increased (about 12-18 times) [20].
  • Deletion of the hexokinase HXK2 gene reduced growth in the presence of glucose and suppressed the growth defect of the pex1 mutant on glucose [18].

Regulatory relationships of PEX1

  • Stable overexpression of PEX11beta to induce peroxisome proliferation largely re-established the alignment of peroxisomal structures along peripheral microtubules in both PEX1-null and D-BP-deficient cells [21].

Other interactions of PEX1


Analytical, diagnostic and therapeutic context of PEX1


  1. PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter. Braverman, N., Steel, G., Lin, P., Moser, A., Moser, H., Valle, D. Genomics (2000) [Pubmed]
  2. Comparative application of antibody and gene array for expression profiling in human squamous cell lung carcinoma. Bartling, B., Hofmann, H.S., Boettger, T., Hansen, G., Burdach, S., Silber, R.E., Simm, A. Lung Cancer (2005) [Pubmed]
  3. Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder. Fujiwara, C., Imamura, A., Hashiguchi, N., Shimozawa, N., Suzuki, Y., Kondo, N., Imanaka, T., Tsukamoto, T., Osumi, T. J. Biol. Chem. (2000) [Pubmed]
  4. Late onset white matter disease in peroxisome biogenesis disorder. Barth, P.G., Gootjes, J., Bode, H., Vreken, P., Majoie, C.B., Wanders, R.J. Neurology (2001) [Pubmed]
  5. Neocortical and cerebellar developmental abnormalities in conditions of selective elimination of peroxisomes from brain or from liver. Krysko, O., Hulshagen, L., Janssen, A., Sch??tz, G., Klein, R., De Bruycker, M., Espeel, M., Gressens, P., Baes, M. J. Neurosci. Res. (2007) [Pubmed]
  6. The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. Matsumoto, N., Tamura, S., Fujiki, Y. Nat. Cell Biol. (2003) [Pubmed]
  7. Pex18p and Pex21p, a novel pair of related peroxins essential for peroxisomal targeting by the PTS2 pathway. Purdue, P.E., Yang, X., Lazarow, P.B. J. Cell Biol. (1998) [Pubmed]
  8. Multiple PEX genes are required for proper subcellular distribution and stability of Pex5p, the PTS1 receptor: evidence that PTS1 protein import is mediated by a cycling receptor. Dodt, G., Gould, S.J. J. Cell Biol. (1996) [Pubmed]
  9. Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis. Weller, S., Cajigas, I., Morrell, J., Obie, C., Steel, G., Gould, S.J., Valle, D. Am. J. Hum. Genet. (2005) [Pubmed]
  10. Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders. Imamura, A., Tamura, S., Shimozawa, N., Suzuki, Y., Zhang, Z., Tsukamoto, T., Orii, T., Kondo, N., Osumi, T., Fujiki, Y. Hum. Mol. Genet. (1998) [Pubmed]
  11. Identification of a common PEX1 mutation in Zellweger syndrome. Collins, C.S., Gould, S.J. Hum. Mutat. (1999) [Pubmed]
  12. Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1. Imamura, A., Shimozawa, N., Suzuki, Y., Zhang, Z., Tsukamoto, T., Fujiki, Y., Orii, T., Osumi, T., Wanders, R.J., Kondo, N. Pediatr. Res. (2000) [Pubmed]
  13. Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. Maxwell, M.A., Allen, T., Solly, P.B., Svingen, T., Paton, B.C., Crane, D.I. Hum. Mutat. (2002) [Pubmed]
  14. Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels. Walter, C., Gootjes, J., Mooijer, P.A., Portsteffen, H., Klein, C., Waterham, H.R., Barth, P.G., Epplen, J.T., Kunau, W.H., Wanders, R.J., Dodt, G. Am. J. Hum. Genet. (2001) [Pubmed]
  15. Dynamic and Functional Assembly of the AAA Peroxins, Pex1p and Pex6p, and Their Membrane Receptor Pex26p. Tamura, S., Yasutake, S., Matsumoto, N., Fujiki, Y. J. Biol. Chem. (2006) [Pubmed]
  16. Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. Tamura, S., Matsumoto, N., Imamura, A., Shimozawa, N., Suzuki, Y., Kondo, N., Fujiki, Y. Biochem. J. (2001) [Pubmed]
  17. A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype. Maxwell, M.A., Nelson, P.V., Chin, S.J., Paton, B.C., Carey, W.F., Crane, D.I. Hum. Genet. (1999) [Pubmed]
  18. Peroxisome Function Regulates Growth on Glucose in the Basidiomycete Fungus Cryptococcus neoformans. Idnurm, A., Giles, S.S., Perfect, J.R., Heitman, J. Eukaryotic Cell (2007) [Pubmed]
  19. The common phospholipid-binding activity of the N-terminal domains of PEX1 and VCP/p97. Shiozawa, K., Goda, N., Shimizu, T., Mizuguchi, K., Kondo, N., Shimozawa, N., Shirakawa, M., Hiroaki, H. FEBS J. (2006) [Pubmed]
  20. Analysis of cysteinyl leukotrienes and their metabolites in bile of patients with peroxisomal or mitochondrial beta-oxidation defects. Mayatepek, E., Ferdinandusse, S., Meissner, T., Wanders, R.J. Clin. Chim. Acta (2004) [Pubmed]
  21. Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance. Nguyen, T., Bjorkman, J., Paton, B.C., Crane, D.I. J. Cell. Sci. (2006) [Pubmed]
  22. The membrane biogenesis peroxin Pex16p. Topogenesis and functional roles in peroxisomal membrane assembly. Honsho, M., Hiroshige, T., Fujiki, Y. J. Biol. Chem. (2002) [Pubmed]
  23. Analysis of human Pex19p's domain structure by pentapeptide scanning mutagenesis. Fransen, M., Vastiau, I., Brees, C., Brys, V., Mannaerts, G.P., Van Veldhoven, P.P. J. Mol. Biol. (2005) [Pubmed]
  24. Genomic structure of PEX13, a candidate peroxisome biogenesis disorder gene. Björkman, J., Stetten, G., Moore, C.S., Gould, S.J., Crane, D.I. Genomics (1998) [Pubmed]
  25. A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p. Tamura, S., Shimozawa, N., Suzuki, Y., Tsukamoto, T., Osumi, T., Fujiki, Y. Biochem. Biophys. Res. Commun. (1998) [Pubmed]
  26. Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry. Rizzo, C., Boenzi, S., Wanders, R.J., Duran, M., Caruso, U., Dionisi-Vici, C. Pediatr. Res. (2003) [Pubmed]
WikiGenes - Universities