Palmitoyl protein thioesterase
| Palmitoyl protein thioesterase | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| File:1eh5 opm.png 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 | ||||||||
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| palmitoyl [protein] hydrolase | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| EC number | 3.1.2.22 | ||||||||
| CAS number | 150605-49-5 | ||||||||
| Databases | |||||||||
| IntEnz | IntEnz view | ||||||||
| BRENDA | BRENDA entry | ||||||||
| ExPASy | NiceZyme view | ||||||||
| KEGG | KEGG entry | ||||||||
| MetaCyc | metabolic pathway | ||||||||
| PRIAM | profile | ||||||||
| PDB structures | RCSB PDB PDBe PDBsum | ||||||||
| Gene Ontology | AmiGO / QuickGO | ||||||||
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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:
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See also
References
- ↑ 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.
External links
- Palmitoyl+Thioesterase at the US National Library of Medicine Medical Subject Headings (MeSH)
- GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses