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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Peroxisome biogenesis factor 1''', also known as '''PEX1''', is a [[protein]] which in humans is encoded by the ''PEX1'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PEX1 peroxisome biogenesis factor 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5189| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This gene encodes a member of the [[AAA proteins|AAA protein]] family, a large group of [[ATPase]]s 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 [[peroxisome]]s 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]].<ref name="entrez"/>
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Peroxisome biogenesis factor 1
| HGNCid = 8850
| Symbol = PEX1
| AltSymbols =; ZWS1
| OMIM = 602136
| ECnumber = 
| Homologene = 27006
| MGIid = 1918632
| GeneAtlas_image1 = PBB_GE_PEX1_204873_at_tn.png
| GeneAtlas_image2 = PBB_GE_PEX1_215023_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0017111 |text = nucleoside-triphosphatase activity}} {{GNF_GO|id=GO:0042623 |text = ATPase activity, coupled}}
| Component = {{GNF_GO|id=GO:0005777 |text = peroxisome}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0007031 |text = peroxisome organization and biogenesis}} {{GNF_GO|id=GO:0015031 |text = protein transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5189
    | Hs_Ensembl = ENSG00000127980
    | Hs_RefseqProtein = NP_000457
    | Hs_RefseqmRNA = NM_000466
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 7
    | Hs_GenLoc_start = 91954276
    | Hs_GenLoc_end = 91995745
    | Hs_Uniprot = O43933
    | Mm_EntrezGene = 71382
    | Mm_Ensembl = ENSMUSG00000005907
    | Mm_RefseqmRNA = NM_027777
    | Mm_RefseqProtein = NP_082053
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 5
    | Mm_GenLoc_start = 3602072
    | Mm_GenLoc_end = 3643107
    | Mm_Uniprot = 
  }}
}}
'''Peroxisome biogenesis factor 1''', also known as '''PEX1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PEX1 peroxisome biogenesis factor 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5189| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
==Interactions==
{{PBB_Summary
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>
| section_title =  
| summary_text = This gene encodes a member of the AAA ATPase 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.<ref name="entrez">{{cite web | title = Entrez Gene: PEX1 peroxisome biogenesis factor 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5189| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{Reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{Refbegin | 2}}
{{PBB_Further_reading
*{{Cite journal  | author=Wanders RJ |title=Metabolic and molecular basis of peroxisomal disorders: a review. |journal=Am. J. Med. Genet. A |volume=126 |issue= 4 |pages= 355–75 |year= 2004 |pmid= 15098234 |doi= 10.1002/ajmg.a.20661 }}
| citations =
*{{Cite journal  |vauthors=Crane DI, Maxwell MA, Paton BC |title=PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. |journal=Hum. Mutat. |volume=26 |issue= 3 |pages= 167–75 |year= 2006 |pmid= 16086329 |doi= 10.1002/humu.20211 }}
*{{cite journal  | author=Wanders RJ |title=Metabolic and molecular basis of peroxisomal disorders: a review. |journal=Am. J. Med. Genet. A |volume=126 |issue= 4 |pages= 355-75 |year= 2004 |pmid= 15098234 |doi= 10.1002/ajmg.a.20661 }}
*{{Cite journal   |vauthors=Naritomi K, Izumikawa Y, Ohshiro S, etal |title=Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7. |journal=Hum. Genet. |volume=84 |issue= 1 |pages= 79–80 |year= 1990 |pmid= 2606480 |doi=10.1007/BF00210677 }}
*{{cite journal  | author=Crane DI, Maxwell MA, Paton BC |title=PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. |journal=Hum. Mutat. |volume=26 |issue= 3 |pages= 167-75 |year= 2006 |pmid= 16086329 |doi= 10.1002/humu.20211 }}
*{{Cite journal   |vauthors=Reuber BE, Germain-Lee E, Collins CS, etal |title=Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. |journal=Nat. Genet. |volume=17 |issue= 4 |pages= 445–8 |year= 1997 |pmid= 9398847 |doi= 10.1038/ng1297-445 }}
*{{cite journal | author=Naritomi K, Izumikawa Y, Ohshiro S, ''et al.'' |title=Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7. |journal=Hum. Genet. |volume=84 |issue= 1 |pages= 79-80 |year= 1990 |pmid= 2606480 |doi=  }}
*{{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 | author=Reuber BE, Germain-Lee E, Collins CS, ''et al.'' |title=Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. |journal=Nat. Genet. |volume=17 |issue= 4 |pages= 445-8 |year= 1997 |pmid= 9398847 |doi= 10.1038/ng1297-445 }}
*{{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 | author=Portsteffen H, Beyer A, Becker E, ''et al.'' |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=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  | author=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=  }}
*{{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 | author=Tamura S, Okumoto K, Toyama R, ''et al.'' |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=  }}
*{{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 | author=Tamura S, Shimozawa N, Suzuki Y, ''et al.'' |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=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  | author=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= }}
*{{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  | author=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=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 | author=Tamura S, Matsumoto N, Imamura A, ''et al.'' |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=  }}
*{{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 | author=Preuss N, Brosius U, Biermanns M, ''et al.'' |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=  }}
*{{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 | author=Cha H, Kopetzki E, Huber R, ''et al.'' |title=Structural basis of the adaptive molecular recognition by MMP9. |journal=J. Mol. Biol. |volume=320 |issue= 5 |pages= 1065-79 |year= 2002 |pmid= 12126625 |doi= }}
*{{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 | author=Maxwell MA, Allen T, Solly PB, ''et al.'' |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=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  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{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 }}
*{{cite journal  | author=Scherer SW, Cheung J, MacDonald JR, ''et al.'' |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 }}
{{Refend}}
*{{cite journal | author=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  | author=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 }}
==External links==
*{{cite journal  | author=Hillier LW, Fulton RS, Fulton LA, ''et al.'' |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 }}
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pbd GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum]
}}
* [https://www.ncbi.nlm.nih.gov/omim/170993,202370,214100,266510,600279,600414,601498,601758,601789,601791,602136,602859,603164,603360,608666,170993,202370,214100,266510,600279,600414,601498,601758,601789,601791,602136,602859,603164,603360,608666 OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum]
{{refend}}
 


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Latest revision as of 19:40, 25 June 2018

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Identifiers
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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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RefSeq (mRNA)

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RefSeq (protein)

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Wikidata
View/Edit Human

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. ↑ 1.0 1.1 "Entrez Gene: PEX1 peroxisome biogenesis factor 1".
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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

External links


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