PEX1

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PEX1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPEX1, PBD1A, PBD1B, ZWS, ZWS1, HMLR1, peroxisomal biogenesis factor 1
External IDsOMIM: 602136 MGI: 1918632 HomoloGene: 27006 GeneCards: PEX1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000466
NM_001282677
NM_001282678

NM_001293806
NM_027777
NM_177211

RefSeq (protein)

NP_000457
NP_001269606
NP_001269607

NP_001280735
NP_082053

Location (UCSC)Chr 7: 92.49 – 92.53 MbChr 5: 3.65 – 3.69 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the PEX1 gene.[5]

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.[5]

Interactions

PEX1 has been shown to interact with PEX6[6][7] and PEX26.[8]

Related diseases

Mutations in the genes encoding PEX1, along with PEX6, are the leading causes of peroxisomal biogenesis disorders,[9] such as Zellweger Syndrome spectrum, infantile Refsum disease, and neonatal adrenoleukodystrophy. These genetic diseases are autosomal recessive and occur in 1 of every 50,000 births.[10] Because of the autosomal recessive inheritance of Zellweger Syndrome, PEX1 is usually found in carrier screening gene panels. A very common PEX1 variant, Gly843Asp, is a mild allele well-reported in the literature.[11]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000127980 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000005907 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: PEX1 peroxisome biogenesis factor 1".
  6. ^ Tamura S, Shimozawa N, Suzuki Y, Tsukamoto T, Osumi T, Fujiki Y (April 1998). "A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p". Biochemical and Biophysical Research Communications. 245 (3): 883–886. doi:10.1006/bbrc.1998.8522. PMID 9588209.
  7. ^ Geisbrecht BV, Collins CS, Reuber BE, Gould SJ (July 1998). "Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease". Proceedings of the National Academy of Sciences of the United States of America. 95 (15): 8630–8635. Bibcode:1998PNAS...95.8630G. doi:10.1073/pnas.95.15.8630. PMC 21127. PMID 9671729.
  8. ^ Matsumoto N, Tamura S, Fujiki Y (May 2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes". Nature Cell Biology. 5 (5): 454–460. doi:10.1038/ncb982. PMID 12717447. S2CID 2426040.
  9. ^ Waterham HR, Ebberink MS (September 2012). "Genetics and molecular basis of human peroxisome biogenesis disorders". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1822 (9): 1430–1441. doi:10.1016/j.bbadis.2012.04.006. PMID 22871920.
  10. ^ Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, et al. (March 2016). "Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines". Molecular Genetics and Metabolism. 117 (3): 313–321. doi:10.1016/j.ymgme.2015.12.009. PMC 5214431. PMID 26750748.
  11. ^ Braverman NE, D'Agostino MD, Maclean GE (June 2013). "Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives". Developmental Disabilities Research Reviews. 17 (3): 187–196. doi:10.1002/ddrr.1113. PMID 23798008.

Further reading

External links