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Palmitoyl Protein Thioesterase 1 (PPT1)

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

Palmitoyl Protein Thioesterase 1 (PPT1)
CCC G621
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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Palmitoyl Protein Thioesterase 1 (PPT1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Palmitoyl Protein Thioesterase 1 (PPT1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Palmitoyl Protein Thioesterase 1 (PPT1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Palmitoyl Protein Thioesterase 1 (PPT1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Palmitoyl Protein Thioesterase 1 (PPT1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPG621Mu01 Recombinant Palmitoyl Protein Thioesterase 1 (PPT1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAG621Mu01 Polyclonal Antibody to Palmitoyl Protein Thioesterase 1 (PPT1) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Palmitoyl Protein Thioesterase 1 (PPT1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Palmitoyl Protein Thioesterase 1 (PPT1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Palmitoyl Protein Thioesterase 1 (PPT1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Palmitoyl Protein Thioesterase 1 (PPT1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Palmitoyl Protein Thioesterase 1 (PPT1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Palmitoyl Protein Thioesterase 1 (PPT1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Palmitoyl Protein Thioesterase 1 (PPT1) ELISA Kit Customized Service Offer
  1. "Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis."Nature 376:584-587(1995) [PubMed] [Europe PMC] [Abstract]
  2. "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]
  3. "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]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
  6. "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]
  7. "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]
  8. "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]
  9. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  11. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  12. "Human palmitoyl-protein thioesterase 1."Submitted (APR-2009) to the PDB data bank
  13. "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]
  14. "Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S."J. Clin. Invest. 102:361-370(1998) [PubMed] [Europe PMC] [Abstract]
  15. "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]
  16. "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis."Brain 132:810-819(2009) [PubMed] [Europe PMC] [Abstract]
  17. "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]