Palmitoyl protein thioesterase

Palmitoyl protein thioesterase

Palmitoyl protein thioesterase 1. Red plane shows hydrocarbon boundary of the lipid bilayer
Symbol Palm_thioest
Pfam PF02089
Pfam clan CL0028
InterPro IPR002472
SCOP 1exw
OPM superfamily 135
OPM protein 1eh5
palmitoyl [protein] hydrolase
EC number
CAS number 150605-49-5
IntEnz IntEnz view
ExPASy NiceZyme view
MetaCyc metabolic pathway
PRIAM profile
PDB structures RCSB PDB PDBe PDBsum
Gene Ontology AmiGO / EGO

Palmitoyl protein thioesterases are enzymes (EC that remove thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation.

Neuronal ceroid lipofuscinoses (NCL) represent a group of encephalopathies that occur in 1 in 12,500 children. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.[1] The most common mutation results in intracellular accumulation of the polypeptide and undetectable enzyme activity in the brain. Direct sequencing of cDNAs derived from brain RNA of INCL patients has shown a mis-sense transversion of A to T at nucleotide position 364, which results in substitution of Trp for Arg at position 122 in the protein - Arg 122 is immediately adjacent to a lipase consensus sequence that contains the putative active site Ser of PPT. The occurrence of this and two other independent mutations in the PPT gene strongly suggests that defects in this gene cause INCL.


Human proteins containing this domain include:

palmitoyl-protein thioesterase 1
Symbol PPT1
Alt. symbols PPT
Entrez 5538
HUGO 9325
OMIM 600722
RefSeq NM_000310
UniProt P50897
Other data
EC number
Locus Chr. 1 p32
palmitoyl-protein thioesterase 2
Symbol PPT2
Alt. symbols G14
Entrez 9374
HUGO 9326
OMIM 603298
RefSeq NM_138717
UniProt Q9UMR5
Other data
EC number
Locus Chr. 6 p21.3

See also


  1. Hofmann SL, Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Peltonen L (1995). "Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis". Nature. 376 (6541): 584–587. doi:10.1038/376584a0. PMID 7637805.

This article incorporates text from the public domain Pfam and InterPro IPR002472

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