From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Peroxisome biogenesis factor 10 is a
protein that in humans is encoded by the PEX10
gene .
[5]
[6] 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.
[6]
Clinical significance Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal
biogenesis disorders, ranging from neonatal
adrenoleukodystrophy to
Zellweger syndrome .
[6]
Interactions PEX10 has been shown to
interact with
PEX12
[7]
[8] and
PEX19 .
[9]
[10]
References
^
a b c
GRCh38: Ensembl release 89: ENSG00000157911 –
Ensembl , May 2017
^
a b c
GRCm38: Ensembl release 89: ENSMUSG00000029047 –
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 .
^ 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 . ^
a b c
"Entrez Gene: PEX10 peroxisome biogenesis factor 10" .
^ 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 .
^ 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 .
^ 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 .
^ 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
Okumoto K, Itoh R, Shimozawa N, et al. (1998).
"Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B." Hum. Mol. Genet . 7 (9): 1399–405.
doi :
10.1093/hmg/7.9.1399 .
PMID
9700193 . South ST, Gould SJ (1999).
"Peroxisome synthesis in the absence of preexisting peroxisomes" . J. Cell Biol . 144 (2): 255–66.
doi :
10.1083/jcb.144.2.255 .
PMC
2132891 .
PMID
9922452 . Chang CC, Warren DS, Sacksteder KA, Gould SJ (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 . Sacksteder KA, Jones JM, South ST, et al. (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 . Okumoto K, Abe I, Fujiki Y (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 . Warren DS, Wolfe BD, Gould SJ (2000). "Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients". Hum. Mutat . 15 (6): 509–21.
doi :
10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-# .
PMID
10862081 .
S2CID
196604223 . Fransen M, Wylin T, Brees C, et al. (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 . Fransen M, Brees C, Ghys K, et al. (2002).
"Analysis of mammalian peroxin interactions using a non-transcription-based bacterial two-hybrid assay" . Mol. Cell. Proteomics . 1 (3): 243–52.
doi :
10.1074/mcp.M100025-MCP200 .
PMID
12096124 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003).
"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
PMID
12477932 . Ota T, Suzuki Y, Nishikawa T, et al. (2004).
"Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5.
doi :
10.1038/ng1285 .
PMID
14702039 . Shimozawa N, Nagase T, Takemoto Y, et al. (2003). "Genetic Heterogeneity in Japanese Patients with Peroxisome Biogenesis Disorders and Evidence for a Founder Haplotype for the Most Common Mutation in PEX10 Gene". Peroxisomal Disorders and Regulation of Genes . Advances in Experimental Medicine and Biology. Vol. 544. p. 71.
doi :
10.1007/978-1-4419-9072-3_10 .
ISBN
978-1-4613-4782-8 PMID
14713216 . Gerhard DS, Wagner L, Feingold EA, et al. (2004).
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7.
doi :
10.1101/gr.2596504 .
PMC
528928 .
PMID
15489334 . Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature . 437 (7062): 1173–8.
Bibcode :
2005Natur.437.1173R .
doi :
10.1038/nature04209 .
PMID
16189514 .
S2CID
4427026 . Gregory SG, Barlow KF, McLay KE, et al. (2006).
"The DNA sequence and biological annotation of human chromosome 1" . Nature . 441 (7091): 315–21.
Bibcode :
2006Natur.441..315G .
doi :
10.1038/nature04727 .
PMID
16710414 .
External links
