PPT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | PPT2, C6orf8, G14, PPT-2, palmitoyl-protein thioesterase 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 603298 MGI: 1860075 HomoloGene: 10448 GeneCards: PPT2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Lysosomal thioesterase PPT2 (PPT-2), also known as S-thioesterase G14, is an enzyme that in humans is encoded by the PPT2 gene.[5][6][7]
Function
This gene encodes a member of the palmitoyl protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins.[5]
References
- 1 2 3 ENSG00000231618, ENSG00000168452, ENSG00000228116, ENSG00000236649, ENSG00000206256, ENSG00000206329, ENSG00000221988 GRCh38: Ensembl release 89: ENSG00000227600, ENSG00000231618, ENSG00000168452, ENSG00000228116, ENSG00000236649, ENSG00000206256, ENSG00000206329, ENSG00000221988 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000015474 - 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.
- 1 2 "Entrez Gene: palmitoyl-protein thioesterase 2".
- ↑ Soyombo AA, Hofmann SL (October 1997). "Molecular cloning and expression of palmitoyl-protein thioesterase 2 (PPT2), a homolog of lysosomal palmitoyl-protein thioesterase with a distinct substrate specificity". J. Biol. Chem. 272 (43): 27456–63. doi:10.1074/jbc.272.43.27456. PMID 9341199.
- ↑ Soyombo AA, Yi W, Hofmann SL (March 1999). "Structure of the human palmitoyl-protein thioesterase-2 gene (PPT2) in the major histocompatibility complex on chromosome 6p21.3". Genomics. 56 (2): 208–16. doi:10.1006/geno.1998.5703. PMID 10051407.
Further reading
- Gupta P, Soyombo AA, Atashband A, et al. (2001). "Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice". Proc. Natl. Acad. Sci. U.S.A. 98 (24): 13566–71. Bibcode:2001PNAS...9813566G. doi:10.1073/pnas.251485198. PMC 61081. PMID 11717424.
- Aguado B, Campbell RD (1999). "Characterization of a human MHC class III region gene product with S-thioesterase activity". Biochem. J. 341 ( Pt 3) (Pt 3): 679–89. doi:10.1042/bj3410679. PMC 1220406. PMID 10417332.
- Simpson JC, Wellenreuther R, Poustka A, et al. (2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
- Hancock DB, Eijgelsheim M, Wilk JB, et al. (2010). "Meta-analyses of genome-wide association studies identify multiple novel loci associated with pulmonary function". Nat. Genet. 42 (1): 45–52. doi:10.1038/ng.500. PMC 2832852. PMID 20010835.
- Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- Calero G, Gupta P, Nonato MC, et al. (2003). "The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2". J. Biol. Chem. 278 (39): 37957–64. doi:10.1074/jbc.M301225200. PMID 12855696.
- Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
- Barcellos LF, May SL, Ramsay PP, et al. (2009). Roopenian DC (ed.). "High-Density SNP Screening of the Major Histocompatibility Complex in Systemic Lupus Erythematosus Demonstrates Strong Evidence for Independent Susceptibility Regions". PLOS Genet. 5 (10): e1000696. doi:10.1371/journal.pgen.1000696. PMC 2758598. PMID 19851445.
- McKinnon E, Morahan G, Nolan D, et al. (2009). "Association of MHC SNP genotype with susceptibility to type 1 diabetes: a modified survival approach". Diabetes Obes Metab. 11 (Suppl 1): 92–100. doi:10.1111/j.1463-1326.2008.01009.x. PMC 2755510. PMID 19143821.
- Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
- 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.
- Xie T, Rowen L, Aguado B, et al. (2003). "Analysis of the Gene-Dense Major Histocompatibility Complex Class III Region and Its Comparison to Mouse". Genome Res. 13 (12): 2621–36. doi:10.1101/gr.1736803. PMC 403804. PMID 14656967.
- Hartley JL, Temple GF, Brasch MA (2000). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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.
- Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
- Hillman RT, Green RE, Brenner SE (2004). "An unappreciated role for RNA surveillance". Genome Biol. 5 (2): R8. doi:10.1186/gb-2004-5-2-r8. PMC 395752. PMID 14759258.
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