Biology:PPT1

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Palmitoyl-protein thioesterase 1 (PPT-1), also known as palmitoyl-protein hydrolase 1, is an enzyme that in humans is encoded by the PPT1 gene.

Function

PPT-1 a member of the palmitoyl protein thioesterase family. PPT-1 is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. This enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues.

Clinical significance

Defects in this gene are a cause of neuronal ceroid lipofuscinosis type 1 (CLN1).

Further reading

• Acyl-protein thioesterase

• "Overexpression in colorectal carcinoma of two lysosomal enzymes, CLN2 and CLN1, involved in neuronal ceroid lipofuscinosis.". Cancer 106 (7): 1489–97. 2006. doi:10.1002/cncr.21764. PMID 16518810. 
• "Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.". Pediatr. Neurol. 40 (4): 271–6. 2009. doi:10.1016/j.pediatrneurol.2008.10.018. PMID 19302939. 
• "Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2).". Curr. Mol. Med. 2 (5): 423–37. 2002. doi:10.2174/1566524023362294. PMID 12125808. 
• "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.". Brain 132 (Pt 3): 810–9. 2009. doi:10.1093/brain/awn366. PMID 19201763. 
• "The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease.". Neuromolecular Med. 1 (2): 111–24. 2002. doi:10.1385/NMM:1:2:111. PMID 12025857. 
• "Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.". Eur Arch Psychiatry Clin Neurosci 259 (3): 151–63. 2009. doi:10.1007/s00406-008-0847-2. PMID 19165527. 
• "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.". DNA Res. 12 (2): 117–26. 2005. doi:10.1093/dnares/12.2.117. PMID 16303743. 
• "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. 2006. doi:10.1101/gr.4039406. PMID 16344560. 
• "Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry". Nat. Biotechnol. 21 (6): 660–6. 2003. doi:10.1038/nbt827. PMID 12754519. 
• "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. 2003. doi:10.1074/jbc.M301225200. PMID 12855696. 
• "Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice". J. Clin. Invest. 118 (9): 3075–86. 2008. doi:10.1172/JCI33482. PMID 18704195. 
• "Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1". Neurology 68 (5): 387–8. 2007. doi:10.1212/01.wnl.0000252825.85947.2f. PMID 17261688. 
• "Palmitoyl protein thioesterase 1 is targeted to the axons in neurons". J. Comp. Neurol. 455 (3): 368–77. 2003. doi:10.1002/cne.10492. PMID 12483688. 
• "Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence". Psychiatry Res 165 (1–2): 1–9. 2009. doi:10.1016/j.psychres.2007.08.011. PMID 19054571. 
• "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334. 
• "Batten's disease: clues to neuronal protein catabolism in lysosomes". J. Neurosci. Res. 60 (2): 133–40. 2000. doi:10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3. PMID 10740217. 
• "Differential regulation of ceramide in lipid-rich microdomains (rafts): antagonistic role of palmitoyl:protein thioesterase and neutral sphingomyelinase 2". J. Neurosci. Res. 81 (2): 208–17. 2005. doi:10.1002/jnr.20549. PMID 15929065. 
• "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. 2002. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M. 
• "Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL". Hum. Mol. Genet. 15 (10): 1580–6. 2006. doi:10.1093/hmg/ddl078. PMID 16571600. 
• "Palmitoyl protein thioesterase 1 (PPT1) deficiency causes endocytic defects connected to abnormal saposin processing". Exp. Cell Res. 312 (9): 1540–53. 2006. doi:10.1016/j.yexcr.2006.01.034. PMID 16542649. 

External links

• GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinosis

This article incorporates text from the United States National Library of Medicine, which is in the public domain.