Palmitoyl protein thioesterase

Palmitoyl protein thioesterase
Palmitoyl protein thioesterase 1. Red plane shows hydrocarbon boundary of the lipid bilayer
Identifiers
Symbol	Palm_thioest
Pfam	PF02089
Pfam clan	CL0028
InterPro	IPR002472
SCOP	1exw
SUPERFAMILY	1exw
OPM superfamily	135
OPM protein	1eh5
Available protein structures: Pfam structures PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

Palmitoyl protein thioesterases are enzymes (EC 3.1.2.22) 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.

Examples

Human proteins containing this domain include:

See also

• palmitoyl

References

External links

• Palmitoyl Thioesterase at the US National Library of Medicine Medical Subject Headings (MeSH)
• GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses

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