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==Interactions== | ==Interactions== | ||
PEX1 has been shown to [[Protein-protein interaction|interact]] with [[PEX6]]<ref name=pmid9588209>{{cite journal |last=Tamura |first=S |authorlink= |author2=Shimozawa N |author3=Suzuki Y |author4=Tsukamoto T |author5=Osumi T |author6=Fujiki Y |date=Apr 1998 |title=A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p |journal=Biochem. Biophys. Res. Commun. |volume=245 |issue=3 |pages=883–6 |publisher= |location = UNITED STATES| issn = 0006-291X| pmid = 9588209 |doi = 10.1006/bbrc.1998.8522 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}</ref><ref name=pmid9671729>{{cite journal |last=Geisbrecht |first=B V |authorlink= |author2=Collins C S |author3=Reuber B E |author4=Gould S J |date=Jul 1998 |title=Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease |journal=[[PNAS|Proc. Natl. Acad. Sci. U.S.A.]] |volume=95 |issue=15 |pages=8630–5 |publisher= |location = UNITED STATES| issn = 0027-8424| pmid = 9671729 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |doi=10.1073/pnas.95.15.8630 |pmc=21127 }}</ref> and [[PEX26]].<ref name=pmid12717447>{{cite journal |last=Matsumoto |first=Naomi |authorlink= |author2=Tamura Shigehiko |author3=Fujiki Yukio |date=May 2003 |title=The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes |journal=Nat. Cell Biol. |volume=5 |issue=5 |pages=454–60 |publisher= |location = England| issn = 1465-7392| pmid = 12717447 |doi = 10.1038/ncb982 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}</ref> | PEX1 has been shown to [[Protein-protein interaction|interact]] with [[PEX6]]<ref name=pmid9588209>{{cite journal |last=Tamura |first=S |authorlink= |author2=Shimozawa N |author3=Suzuki Y |author4=Tsukamoto T |author5=Osumi T |author6=Fujiki Y |date=Apr 1998 |title=A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p |journal=Biochem. Biophys. Res. Commun. |volume=245 |issue=3 |pages=883–6 |publisher= |location = UNITED STATES| issn = 0006-291X| pmid = 9588209 |doi = 10.1006/bbrc.1998.8522 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}</ref><ref name=pmid9671729>{{cite journal |last=Geisbrecht |first=B V |authorlink= |author2=Collins C S |author3=Reuber B E |author4=Gould S J |date=Jul 1998 |title=Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease |journal=[[PNAS|Proc. Natl. Acad. Sci. U.S.A.]] |volume=95 |issue=15 |pages=8630–5 |publisher= |location = UNITED STATES| issn = 0027-8424| pmid = 9671729 | bibcode =1998PNAS...95.8630G | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |doi=10.1073/pnas.95.15.8630 |pmc=21127 }}</ref> and [[PEX26]].<ref name=pmid12717447>{{cite journal |last=Matsumoto |first=Naomi |authorlink= |author2=Tamura Shigehiko |author3=Fujiki Yukio |date=May 2003 |title=The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes |journal=Nat. Cell Biol. |volume=5 |issue=5 |pages=454–60 |publisher= |location = England| issn = 1465-7392| pmid = 12717447 |doi = 10.1038/ncb982 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}</ref> | ||
==References== | ==References== | ||
| Line 18: | Line 18: | ||
*{{Cite journal |vauthors=Portsteffen H, Beyer A, Becker E, etal |title=Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. |journal=Nat. Genet. |volume=17 |issue= 4 |pages= 449–52 |year= 1997 |pmid= 9398848 |doi= 10.1038/ng1297-449 }} | *{{Cite journal |vauthors=Portsteffen H, Beyer A, Becker E, etal |title=Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. |journal=Nat. Genet. |volume=17 |issue= 4 |pages= 449–52 |year= 1997 |pmid= 9398848 |doi= 10.1038/ng1297-449 }} | ||
*{{Cite journal |vauthors=Faber KN, Heyman JA, Subramani S |title=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. |journal=Mol. Cell. Biol. |volume=18 |issue= 2 |pages= 936–43 |year= 1998 |pmid= 9447990 |doi= | pmc=108805 }} | *{{Cite journal |vauthors=Faber KN, Heyman JA, Subramani S |title=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. |journal=Mol. Cell. Biol. |volume=18 |issue= 2 |pages= 936–43 |year= 1998 |pmid= 9447990 |doi= | pmc=108805 }} | ||
*{{Cite journal |vauthors=Tamura S, Okumoto K, Toyama R, etal |title=Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 8 |pages= 4350–5 |year= 1998 |pmid= 9539740 |doi=10.1073/pnas.95.8.4350 | pmc=22492 }} | *{{Cite journal |vauthors=Tamura S, Okumoto K, Toyama R, etal |title=Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 8 |pages= 4350–5 |year= 1998 |pmid= 9539740 |doi=10.1073/pnas.95.8.4350 | pmc=22492 |bibcode=1998PNAS...95.4350T }} | ||
*{{Cite journal |vauthors=Tamura S, Shimozawa N, Suzuki Y, etal |title=A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p. |journal=Biochem. Biophys. Res. Commun. |volume=245 |issue= 3 |pages= 883–6 |year= 1998 |pmid= 9588209 |doi= 10.1006/bbrc.1998.8522 }} | *{{Cite journal |vauthors=Tamura S, Shimozawa N, Suzuki Y, etal |title=A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p. |journal=Biochem. Biophys. Res. Commun. |volume=245 |issue= 3 |pages= 883–6 |year= 1998 |pmid= 9588209 |doi= 10.1006/bbrc.1998.8522 }} | ||
*{{Cite journal |vauthors=Geisbrecht BV, Collins CS, Reuber BE, Gould SJ |title=Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 15 |pages= 8630–5 |year= 1998 |pmid= 9671729 |doi=10.1073/pnas.95.15.8630 | pmc=21127 }} | *{{Cite journal |vauthors=Geisbrecht BV, Collins CS, Reuber BE, Gould SJ |title=Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 15 |pages= 8630–5 |year= 1998 |pmid= 9671729 |doi=10.1073/pnas.95.15.8630 | pmc=21127 |bibcode=1998PNAS...95.8630G }} | ||
*{{Cite journal |vauthors=Collins CS, Gould SJ |title=Identification of a common PEX1 mutation in Zellweger syndrome. |journal=Hum. Mutat. |volume=14 |issue= 1 |pages= 45–53 |year= 1999 |pmid= 10447258 |doi= 10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J }} | *{{Cite journal |vauthors=Collins CS, Gould SJ |title=Identification of a common PEX1 mutation in Zellweger syndrome. |journal=Hum. Mutat. |volume=14 |issue= 1 |pages= 45–53 |year= 1999 |pmid= 10447258 |doi= 10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J }} | ||
*{{Cite journal |vauthors=Tamura S, Matsumoto N, Imamura A, etal |title=Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. |journal=Biochem. J. |volume=357 |issue= Pt 2 |pages= 417–26 |year= 2001 |pmid= 11439091 |doi=10.1042/0264-6021:3570417 | pmc=1221968 }} | *{{Cite journal |vauthors=Tamura S, Matsumoto N, Imamura A, etal |title=Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. |journal=Biochem. J. |volume=357 |issue= Pt 2 |pages= 417–26 |year= 2001 |pmid= 11439091 |doi=10.1042/0264-6021:3570417 | pmc=1221968 }} | ||
*{{Cite journal |vauthors=Preuss N, Brosius U, Biermanns M, etal |title=PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. |journal=Pediatr. Res. |volume=51 |issue= 6 |pages= 706–14 |year= 2002 |pmid= 12032265 |doi= 10.1203/00006450-200206000-00008}} | *{{Cite journal |vauthors=Preuss N, Brosius U, Biermanns M, etal |title=PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. |journal=Pediatr. Res. |volume=51 |issue= 6 |pages= 706–14 |year= 2002 |pmid= 12032265 |doi= 10.1203/00006450-200206000-00008}} | ||
*{{Cite journal |vauthors=Maxwell MA, Allen T, Solly PB, etal |title=Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. |journal=Hum. Mutat. |volume=20 |issue= 5 |pages= 342–51 |year= 2003 |pmid= 12402331 |doi= 10.1002/humu.10128 }} | *{{Cite journal |vauthors=Maxwell MA, Allen T, Solly PB, etal |title=Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. |journal=Hum. Mutat. |volume=20 |issue= 5 |pages= 342–51 |year= 2003 |pmid= 12402331 |doi= 10.1002/humu.10128 }} | ||
*{{Cite journal |vauthors=Scherer SW, Cheung J, MacDonald JR, etal |title=Human chromosome 7: DNA sequence and biology. |journal=Science |volume=300 |issue= 5620 |pages= 767–72 |year= 2003 |pmid= 12690205 |doi= 10.1126/science.1083423 | pmc=2882961 }} | *{{Cite journal |vauthors=Scherer SW, Cheung J, MacDonald JR, etal |title=Human chromosome 7: DNA sequence and biology. |journal=Science |volume=300 |issue= 5620 |pages= 767–72 |year= 2003 |pmid= 12690205 |doi= 10.1126/science.1083423 | pmc=2882961 |bibcode=2003Sci...300..767S }} | ||
*{{Cite journal |vauthors=Matsumoto N, Tamura S, Fujiki Y |title=The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. |journal=Nat. Cell Biol. |volume=5 |issue= 5 |pages= 454–60 |year= 2003 |pmid= 12717447 |doi= 10.1038/ncb982 }} | *{{Cite journal |vauthors=Matsumoto N, Tamura S, Fujiki Y |title=The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. |journal=Nat. Cell Biol. |volume=5 |issue= 5 |pages= 454–60 |year= 2003 |pmid= 12717447 |doi= 10.1038/ncb982 }} | ||
*{{Cite journal |vauthors=Dodt G, Walter C |title=Study of mutant proteins with folding defects in cultured patient cells. |journal=Methods Mol. Biol. |volume=232 |issue= |pages= 165–73 |year= 2004 |pmid= 12840548 |doi= 10.1385/1-59259-394-1:165 | chapter=Study of Mutant Proteins With Folding Defects in Cultured Patient Cells | isbn=1-59259-394-1 }} | *{{Cite journal |vauthors=Dodt G, Walter C |title=Study of mutant proteins with folding defects in cultured patient cells. |journal=Methods Mol. Biol. |volume=232 |issue= |pages= 165–73 |year= 2004 |pmid= 12840548 |doi= 10.1385/1-59259-394-1:165 | chapter=Study of Mutant Proteins With Folding Defects in Cultured Patient Cells | isbn=1-59259-394-1 }} | ||
*{{Cite journal |vauthors=Hillier LW, Fulton RS, Fulton LA, etal |title=The DNA sequence of human chromosome 7 |journal=Nature |volume=424 |issue= 6945 |pages= 157–64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 }} | *{{Cite journal |vauthors=Hillier LW, Fulton RS, Fulton LA, etal |title=The DNA sequence of human chromosome 7 |journal=Nature |volume=424 |issue= 6945 |pages= 157–64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 |bibcode=2003Natur.424..157H }} | ||
{{Refend}} | {{Refend}} | ||
Latest revision as of 19:40, 25 June 2018
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Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the PEX1 gene.[1]
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.[1]
Interactions
PEX1 has been shown to interact with PEX6[2][3] and PEX26.[4]
References
- ↑ 1.0 1.1 "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. 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. UNITED STATES. 95 (15): 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. England. 5 (5): 454–60. doi:10.1038/ncb982. ISSN 1465-7392. PMID 12717447.
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. 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. 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.
|chapter=ignored (help) - 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
- GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
- OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
 | This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it. |