Palmitoyl Protein Thioesterase 1 (PPT1)

PPT; CLN1; INCL; Ceroid-Lipofuscinosis,Neuronal 1,Infantile; Palmitoyl-protein hydrolase 1

SPN	Q183
HGNC	9325
MGI	1298204
PubMed	8325646
RGD	61994
UniProt	P50897
Wiki	PPT1

PPT1 is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.
The cDNA predicted a 306-amino acid polypeptide that contains a 25-amino acid signal peptide, 3 N-linked glycosylation sites, and consensus motifs characteristic of thioesterases. Northern blot analysis revealed ubiquitous expression of a single 2.5-kb mRNA, with highest expression in lung, brain, and heart.

Reference

"Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis."
Nature 376:584-587(1995) [PubMed] [Europe PMC] [Abstract]

"Didemnin binds to the protein palmitoyl thioesterase responsible for infantile neuronal ceroid lipofuscinosis."
Proc. Natl. Acad. Sci. U.S.A. 93:4316-4319(1996) [PubMed] [Europe PMC] [Abstract]

"cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis."
Genomics 34:317-322(1996) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

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Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase."
Proc. Natl. Acad. Sci. U.S.A. 93:10046-10050(1996) [PubMed] [Europe PMC] [Abstract]

"Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry."
Nat. Biotechnol. 21:660-666(2003) [PubMed] [Europe PMC] [Abstract]

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
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"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Human palmitoyl-protein thioesterase 1."
Submitted (APR-2009) to the PDB data bank

"Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits."
Hum. Mol. Genet. 7:291-297(1998) [PubMed] [Europe PMC] [Abstract]

"Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S."
J. Clin. Invest. 102:361-370(1998) [PubMed] [Europe PMC] [Abstract]

"Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease."
Ann. Neurol. 50:269-272(2001) [PubMed] [Europe PMC] [Abstract]

"Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis."
Brain 132:810-819(2009) [PubMed] [Europe PMC] [Abstract]

"Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses."
Hum. Mutat. 33:42-63(2012) [PubMed] [Europe PMC] [Abstract]