PEX1

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
1WLF

Identifiers

Aliases

PEX1, PBD1A, PBD1B, ZWS, ZWS1, HMLR1, peroxisomal biogenesis factor 1

External IDs

MGI: 1918632 HomoloGene: 27006 GeneCards: PEX1

Gene location (Human)

Chr.	Chromosome 7 (human)^[1]

Band	No data available	Start	92,487,020 bp^[1]
Band	No data available	End	92,528,531 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 5 (mouse)^[2]

Band	No data available	Start	3,596,066 bp^[2]
Band	No data available	End	3,637,232 bp^[2]

RNA expression pattern

More reference expression data

Gene ontology
Molecular function	• ATPase activity, coupled • protein complex binding • nucleotide binding • protein C-terminus binding • protein binding • ATP binding
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

Species

Human

Mouse

Entrez


5189


71382

Ensembl


ENSG00000127980


ENSMUSG00000005907

UniProt


O43933


Q5BL07

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 Mb

Chr 7: 3.6 – 3.64 Mb

PubMed search

^[3]

^[4]

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

1 2 3 GRCh38: Ensembl release 89: ENSG00000127980 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000005907 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
1 2 "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. UNITED STATES. 245 (3): 883–6. ISSN 0006-291X. PMID 9588209. doi:10.1006/bbrc.1998.8522.
↑ 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. ISSN 0027-8424. PMC 21127 . PMID 9671729. doi:10.1073/pnas.95.15.8630.
↑ 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. ISSN 1465-7392. PMID 12717447. doi:10.1038/ncb982.

Wanders RJ (2004). "Metabolic and molecular basis of peroxisomal disorders: a review.". Am. J. Med. Genet. A. 126 (4): 355–75. PMID 15098234. doi:10.1002/ajmg.a.20661.
Crane DI, Maxwell MA, Paton BC (2006). "PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.". Hum. Mutat. 26 (3): 167–75. PMID 16086329. doi:10.1002/humu.20211.
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. doi:10.1007/BF00210677.
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. PMID 9398847. doi:10.1038/ng1297-445.
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. PMID 9398848. doi:10.1038/ng1297-449.
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. PMC 22492 . PMID 9539740. doi:10.1073/pnas.95.8.4350.
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. PMID 9588209. doi:10.1006/bbrc.1998.8522.
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. PMC 21127 . PMID 9671729. doi:10.1073/pnas.95.15.8630.
Collins CS, Gould SJ (1999). "Identification of a common PEX1 mutation in Zellweger syndrome.". Hum. Mutat. 14 (1): 45–53. PMID 10447258. doi:10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J.
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. PMC 1221968 . PMID 11439091. doi:10.1042/0264-6021:3570417.
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. doi:10.1203/00006450-200206000-00008.
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. PMID 12402331. doi:10.1002/humu.10128.
Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology.". Science. 300 (5620): 767–72. PMC 2882961 . PMID 12690205. doi:10.1126/science.1083423.
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. PMID 12717447. doi:10.1038/ncb982.
Dodt G, Walter C (2004). "Study of mutant proteins with folding defects in cultured patient cells.". Methods Mol. Biol. 232: 165–73. ISBN 1-59259-394-1. PMID 12840548. doi:10.1385/1-59259-394-1:165. |chapter= ignored (help)
Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. PMID 12853948. doi:10.1038/nature01782.

External links

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PEX1

Interactions

References

Further reading

External links