PEX10

PEX10
Identifiers
Aliases	PEX10 , NALD, PBD6A, PBD6B, RNF69, peroxisomal biogenesis factor 10
External IDs	OMIM: 602859; MGI: 2684988; HomoloGene: 5671; GeneCards: PEX10; OMA:PEX10 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p36.32 Start 2,403,964 bp [1] End 2,413,797 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 E2 Start 155,151,473 bp [2] End 155,156,890 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parotid gland tendon of biceps brachii C1 segment right adrenal cortex left adrenal gland left adrenal cortex amygdala internal globus pallidus left testis right testis Top expressed in yolk sac hand aortic valve otolith organ utricle neural layer of retina muscle of thigh right kidney ascending aorta soleus muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function zinc ion binding protein C-terminus binding protein binding metal ion binding Cellular component peroxisome membrane integral component of peroxisomal membrane intracellular anatomical structure peroxisomal membrane Biological process peroxisome organization protein import into peroxisome matrix protein ubiquitination protein targeting to peroxisome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5192 668173 Ensembl ENSG00000157911 ENSMUSG00000029047 UniProt O60683 B1AUE5 RefSeq (mRNA) NM_002617 NM_153818 NM_001374425 NM_001374426 NM_001374427 NM_001042407 RefSeq (protein) NP_002608 NP_722540 NP_001361354 NP_001361355 NP_001361356 NP_001035866 Location (UCSC) Chr 1: 2.4 – 2.41 Mb Chr 4: 155.15 – 155.16 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000157911 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029047 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "Entrez Gene: PEX10 peroxisome biogenesis factor 10".
7. 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.
8. 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.
9. 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.
10. 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

• GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
• OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum