PEX1

PEX1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1WLF
Identifiers
Aliases	PEX1, PBD1A, PBD1B, ZWS, ZWS1, HMLR1, peroxisomal biogenesis factor 1
External IDs	OMIM: 602136; MGI: 1918632; HomoloGene: 27006; GeneCards: PEX1; OMA:PEX1 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	92,528,520 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	3,687,232 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; body of pancreas; ; gastric mucosa; ; skin of leg; ; right hemisphere of cerebellum; ; skin of abdomen; ; rectum; ; C1 segment; ; left lobe of thyroid gland; ; tibial nerve;
	Top expressed in
	zygote; ; secondary oocyte; ; neural layer of retina; ; hand; ; left lobe of liver; ; primary oocyte; ; tail of embryo; ; epithelium of small intestine; ; superior frontal gyrus; ; yolk sac;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein-containing complex binding; nucleotide binding; protein C-terminus binding; protein binding; ATP binding; ATPase activity;
Cellular component	cytoplasm; cytosol; peroxisomal membrane; peroxisome; extracellular exosome; membrane;
Biological process	protein targeting to peroxisome; protein transport; microtubule-based peroxisome localization; peroxisome organization; protein import into peroxisome matrix; transport;
	Sources:Amigo / QuickGO
Orthologs
	5189
	71382
	ENSG00000127980
	ENSMUSG00000005907
	O43933
	Q5BL07
	NM_000466; NM_001282677; NM_001282678
	NM_001293806; NM_027777; NM_177211
	NP_000457; NP_001269606; NP_001269607
	NP_001280735; NP_082053
	Wikidata
View/Edit Human	View/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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000127980 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000005907 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: PEX1 peroxisome biogenesis factor 1".
^ 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. 245 (3). UNITED STATES: 883–6. doi:10.1006/bbrc.1998.8522. ISSN 0006-291X. PMID 9588209.
^ 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. 95 (15). UNITED STATES: 8630–5. Bibcode:1998PNAS...95.8630G. doi:10.1073/pnas.95.15.8630. ISSN 0027-8424. PMC 21127. PMID 9671729.
^ Matsumoto, Naomi; Tamura Shigehiko; Fujiki Yukio (May 2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes". Nat. Cell Biol. 5 (5). England: 454–60. doi:10.1038/ncb982. ISSN 1465-7392. PMID 12717447.

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. doi:10.1128/mcb.18.2.936. 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. Bibcode:1998PNAS...95.4350T. 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. Bibcode:1998PNAS...95.8630G. 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. Bibcode:2003Sci...300..767S. 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.
Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. Bibcode:2003Natur.424..157H. doi:10.1038/nature01782. PMID 12853948.

External links

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000127980 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[entrez-5] "Entrez Gene: PEX1 peroxisome biogenesis factor 1".

[pmid9588209-6] 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. 245 (3). UNITED STATES: 883–6. doi:10.1006/bbrc.1998.8522. ISSN 0006-291X. PMID 9588209.

[pmid9671729-7] 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. 95 (15). UNITED STATES: 8630–5. Bibcode:1998PNAS...95.8630G. doi:10.1073/pnas.95.15.8630. ISSN 0027-8424. PMC 21127. PMID 9671729.

[pmid12717447-8] Matsumoto, Naomi; Tamura Shigehiko; Fujiki Yukio (May 2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes". Nat. Cell Biol. 5 (5). England: 454–60. doi:10.1038/ncb982. ISSN 1465-7392. PMID 12717447.

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Interactions

References

Further reading

External links