Palmitoyl-protein thioesterase 1 (PPT-1), also known as palmitoyl-protein hydrolase 1, is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products ...
that in humans is encoded by the PPT1
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Function
PPT-1 a member of the
palmitoyl protein thioesterase
Palmitoyl protein hydrolase/thioesterases is an enzyme (EC 3.1.2.22) that removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. It catalyzes the reac ...
family. PPT-1 is a small
glycoprotein involved in the catabolism of lipid-modified proteins during
lysosomal
A lysosome () is a membrane-bound organelle found in many animal cells. They are spherical vesicles that contain hydrolytic enzymes that can break down many kinds of biomolecules. A lysosome has a specific composition, of both its membrane pro ...
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
Palmitic acid (hexadecanoic acid in IUPAC nomenclature) is a fatty acid with a 16-carbon chain. It is the most common saturated fatty acid found in animals, plants and microorganisms.Gunstone, F. D., John L. Harwood, and Albert J. Dijkstra. The L ...
from
cysteine 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 prote ...
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External links
GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinosis
EC 3.1.2
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