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{{Infobox_gene}}
{{PBB_Controls
'''Peroxisome biogenesis factor 10''' is a [[protein]] that in humans is encoded by the ''PEX10'' [[gene]].<ref name="pmid9683594">{{cite journal | vauthors = Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ | title = Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders | journal = Am J Hum Genet | volume = 63 | issue = 2 | pages = 347–59 |date=December 1998 | pmid = 9683594 | pmc = 1377304 | doi = 10.1086/301963 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PEX10 peroxisome biogenesis factor 10| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5192| accessdate = }}</ref> Alternative splicing results in two transcript variants encoding different isoforms.
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Peroxisome biogenesis factor 10
| HGNCid = 8851
| Symbol = PEX10
| AltSymbols =; MGC1998; NALD; RNF69
| OMIM = 602859
| ECnumber = 
| Homologene = 5671
| MGIid = 2684988
| GeneAtlas_image1 = PBB_GE_PEX10_206351_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_PEX10_206352_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005777 |text = peroxisome}} {{GNF_GO|id=GO:0005778 |text = peroxisomal membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0007031 |text = peroxisome organization and biogenesis}} {{GNF_GO|id=GO:0016558 |text = protein import into peroxisome matrix}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5192
    | Hs_Ensembl = ENSG00000157911
    | Hs_RefseqProtein = NP_002608
    | Hs_RefseqmRNA = NM_002617
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 2326103
    | Hs_GenLoc_end = 2333870
    | Hs_Uniprot = O60683
    | Mm_EntrezGene = 668173
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = XM_992743
    | Mm_RefseqProtein = XP_997837
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''Peroxisome biogenesis factor 10''', also known as '''PEX10''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PEX10 peroxisome biogenesis factor 10| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5192| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
Peroxisome biogenesis factor 10 is involved in import of [[peroxisome|peroxisomal]] matrix proteins. This protein localizes to the peroxisomal membrane.<ref name="entrez"/>
{{PBB_Summary
 
| section_title =
== Clinical significance ==
| summary_text = This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms.<ref name="entrez">{{cite web | title = Entrez Gene: PEX10 peroxisome biogenesis factor 10| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5192| accessdate = }}</ref>
 
}}
Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal [[biogenesis]] disorders, ranging from neonatal [[adrenoleukodystrophy]] to [[Zellweger syndrome]].<ref name="entrez"/>
 
== Interactions ==
 
PEX10 has been shown to [[Protein-protein interaction|interact]] with [[PEX12]]<ref name="pmid10562279">{{cite journal | vauthors = Chang CC, Warren DS, Sacksteder KA, Gould SJ | title = PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import | journal = J. Cell Biol. | volume = 147 | issue = 4 | pages = 761–74 |date=November 1999 | pmid = 10562279 | pmc = 2156163 | doi = 10.1083/jcb.147.4.761 }}</ref><ref name="pmid10837480">{{cite journal | vauthors = Okumoto K, Abe I, Fujiki Y | title = Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p | journal = J. Biol. Chem. | volume = 275 | issue = 33 | pages = 25700–10 |date=August 2000 | pmid = 10837480 | doi = 10.1074/jbc.M003303200 }}</ref> and [[PEX19]].<ref name="pmid10704444">{{cite journal | vauthors = Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ | title = PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis | journal = J. Cell Biol. | volume = 148 | issue = 5 | pages = 931–44 |date=March 2000 | pmid = 10704444 | pmc = 2174547 | doi = 10.1083/jcb.148.5.931 }}</ref><ref name="pmid11390669">{{cite journal | vauthors = Fransen M, Wylin T, Brees C, Mannaerts GP, Van Veldhoven PP | title = Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences | journal = Mol. Cell. Biol. | volume = 21 | issue = 13 | pages = 4413–24 |date=July 2001 | pmid = 11390669 | pmc = 87101 | doi = 10.1128/MCB.21.13.4413-4424.2001 }}</ref>


==References==
==References==
{{reflist|2}}
{{Reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{Refbegin | 2}}
{{PBB_Further_reading
*{{Cite journal   |vauthors=Okumoto K, Itoh R, Shimozawa N, etal |title=Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. |journal=Hum. Mol. Genet. |volume=7 |issue= 9 |pages= 1399–405 |year= 1998 |pmid= 9700193 |doi=10.1093/hmg/7.9.1399 }}
| citations =
*{{Cite journal  | vauthors=South ST, Gould SJ |title=Peroxisome synthesis in the absence of preexisting peroxisomes. |journal=J. Cell Biol. |volume=144 |issue= 2 |pages= 255–66 |year= 1999 |pmid= 9922452 |doi=10.1083/jcb.144.2.255  | pmc=2132891 }}
*{{cite journal  | author=Warren DS, Morrell JC, Moser HW, ''et al.'' |title=Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. |journal=Am. J. Hum. Genet. |volume=63 |issue= 2 |pages= 347-59 |year= 1998 |pmid= 9683594 |doi=  }}
*{{Cite journal  | vauthors=Chang CC, Warren DS, Sacksteder KA, Gould SJ |title=PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import. |journal=J. Cell Biol. |volume=147 |issue= 4 |pages= 761–74 |year= 1999 |pmid= 10562279 |doi=10.1083/jcb.147.4.761  | pmc=2156163 }}
*{{cite journal | author=Okumoto K, Itoh R, Shimozawa N, ''et al.'' |title=Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. |journal=Hum. Mol. Genet. |volume=7 |issue= 9 |pages= 1399-405 |year= 1998 |pmid= 9700193 |doi=  }}
*{{Cite journal   |vauthors=Sacksteder KA, Jones JM, South ST, etal |title=PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. |journal=J. Cell Biol. |volume=148 |issue= 5 |pages= 931–44 |year= 2000 |pmid= 10704444 |doi=10.1083/jcb.148.5.931  | pmc=2174547 }}
*{{cite journal  | author=South ST, Gould SJ |title=Peroxisome synthesis in the absence of preexisting peroxisomes. |journal=J. Cell Biol. |volume=144 |issue= 2 |pages= 255-66 |year= 1999 |pmid= 9922452 |doi=  }}
*{{Cite journal  | vauthors=Okumoto K, Abe I, Fujiki Y |title=Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p. |journal=J. Biol. Chem. |volume=275 |issue= 33 |pages= 25700–10 |year= 2000 |pmid= 10837480 |doi= 10.1074/jbc.M003303200 }}
*{{cite journal  | author=Chang CC, Warren DS, Sacksteder KA, Gould SJ |title=PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import. |journal=J. Cell Biol. |volume=147 |issue= 4 |pages= 761-74 |year= 1999 |pmid= 10562279 |doi=  }}
*{{Cite journal  | vauthors=Warren DS, Wolfe BD, Gould SJ |title=Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. |journal=Hum. Mutat. |volume=15 |issue= 6 |pages= 509–21 |year= 2000 |pmid= 10862081 |doi= 10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-# }}
*{{cite journal | author=Sacksteder KA, Jones JM, South ST, ''et al.'' |title=PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. |journal=J. Cell Biol. |volume=148 |issue= 5 |pages= 931-44 |year= 2000 |pmid= 10704444 |doi=  }}
*{{Cite journal   |vauthors=Fransen M, Wylin T, Brees C, etal |title=Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences. |journal=Mol. Cell. Biol. |volume=21 |issue= 13 |pages= 4413–24 |year= 2001 |pmid= 11390669 |doi= 10.1128/MCB.21.13.4413-4424.2001 | pmc=87101 }}
*{{cite journal  | author=Okumoto K, Abe I, Fujiki Y |title=Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p. |journal=J. Biol. Chem. |volume=275 |issue= 33 |pages= 25700-10 |year= 2000 |pmid= 10837480 |doi= 10.1074/jbc.M003303200 }}
*{{Cite journal   |vauthors=Fransen M, Brees C, Ghys K, etal |title=Analysis of mammalian peroxin interactions using a non-transcription-based bacterial two-hybrid assay. |journal=Mol. Cell. Proteomics |volume=1 |issue= 3 |pages= 243–52 |year= 2002 |pmid= 12096124 |doi=10.1074/mcp.M100025-MCP200 }}
*{{cite journal  | author=Warren DS, Wolfe BD, Gould SJ |title=Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. |journal=Hum. Mutat. |volume=15 |issue= 6 |pages= 509-21 |year= 2000 |pmid= 10862081 |doi= 10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-# }}
*{{Cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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 | pmc=139241 }}
*{{cite journal | author=Fransen M, Wylin T, Brees C, ''et al.'' |title=Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences. |journal=Mol. Cell. Biol. |volume=21 |issue= 13 |pages= 4413-24 |year= 2001 |pmid= 11390669 |doi= 10.1128/MCB.21.13.4413-4424.2001 }}
*{{Cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Fransen M, Brees C, Ghys K, ''et al.'' |title=Analysis of mammalian peroxin interactions using a non-transcription-based bacterial two-hybrid assay. |journal=Mol. Cell Proteomics |volume=1 |issue= 3 |pages= 243-52 |year= 2002 |pmid= 12096124 |doi=  }}
*{{Cite journal   |vauthors=Shimozawa N, Nagase T, Takemoto Y, etal |title=Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene. |journal=Adv. Exp. Med. Biol. |volume=544 |issue=  |pages= 71 |year= 2004 |pmid= 14713216 |doi=  10.1007/978-1-4419-9072-3_10}}
*{{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=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{Cite journal   |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
*{{cite journal | author=Shimozawa N, Nagase T, Takemoto Y, ''et al.'' |title=Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene. |journal=Adv. Exp. Med. Biol. |volume=544 |issue=  |pages= 71 |year= 2004 |pmid= 14713216 |doi=  }}
*{{Cite journal   |vauthors=Gregory SG, Barlow KF, McLay KE, etal |title=The DNA sequence and biological annotation of human chromosome 1. |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
{{Refend}}
*{{cite journal | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
 
*{{cite journal | author=Gregory SG, Barlow KF, McLay KE, ''et al.'' |title=The DNA sequence and biological annotation of human chromosome 1. |journal=Nature |volume=441 |issue= 7091 |pages= 315-21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 }}
==External links==
}}
* [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]
{{refend}}
* [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]
 


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Latest revision as of 17:57, 7 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

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UniProt

n/a

n/a

RefSeq (mRNA)

n/a

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RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Peroxisome biogenesis factor 10 is a protein that in humans is encoded by the PEX10 gene.[1][2] Alternative splicing results in two transcript variants encoding different isoforms.

Function

Peroxisome biogenesis factor 10 is involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane.[2]

Clinical significance

Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome.[2]

Interactions

PEX10 has been shown to interact with PEX12[3][4] and PEX19.[5][6]

References

  1. ↑ Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ (December 1998). "Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders". Am J Hum Genet. 63 (2): 347–59. doi:10.1086/301963. PMC 1377304. PMID 9683594.
  2. ↑ 2.0 2.1 2.2 "Entrez Gene: PEX10 peroxisome biogenesis factor 10".
  3. ↑ Chang CC, Warren DS, Sacksteder KA, Gould SJ (November 1999). "PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import". J. Cell Biol. 147 (4): 761–74. doi:10.1083/jcb.147.4.761. PMC 2156163. PMID 10562279.
  4. ↑ Okumoto K, Abe I, Fujiki Y (August 2000). "Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p". J. Biol. Chem. 275 (33): 25700–10. doi:10.1074/jbc.M003303200. PMID 10837480.
  5. ↑ Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ (March 2000). "PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis". J. Cell Biol. 148 (5): 931–44. doi:10.1083/jcb.148.5.931. PMC 2174547. PMID 10704444.
  6. ↑ Fransen M, Wylin T, Brees C, Mannaerts GP, Van Veldhoven PP (July 2001). "Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences". Mol. Cell. Biol. 21 (13): 4413–24. doi:10.1128/MCB.21.13.4413-4424.2001. PMC 87101. PMID 11390669.

Further reading

External links


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