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
Glycoproteins are proteins which contain oligosaccharide chains covalently attached to amino acid side-chains. The carbohydrate is attached to the protein in a cotranslational or posttranslational modification. This process is known as glycos ...
involved in the catabolism of lipid-modified proteins during
lysosomal degradation. This enzyme removes
thioester
In organic chemistry, thioesters are organosulfur compounds with the functional group . They are analogous to carboxylate esters () with the sulfur in the thioester playing the role of the linking oxygen in the carboxylate ester, as implied by t ...
-linked fatty acyl groups such as
palmitate from
cysteine
Cysteine (symbol Cys or C; ) is a semiessential proteinogenic amino acid with the formula . The thiol side chain in cysteine often participates in enzymatic reactions as a nucleophile.
When present as a deprotonated catalytic residue, sometime ...
residues.
Clinical significance
Defects in this gene are a cause of neuronal ceroid lipofuscinosis type 1 (CLN1).
[ Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses. eview
Warrier V; Vieira M; Mole SE.
Biochimica et Biophysica Acta. 1832(11):1827-30, 2013]
References
Further reading
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Acyl-protein thioesterase
Acyl-protein thioesterases are enzymes that cleave off lipid modifications on proteins, located on the sulfur atom of cysteine residues linked via a thioester bond. Acyl-protein thioesterases are part of the α/β hydrolase superfamily of protein ...
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External links
GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinosis
EC 3.1.2
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