palmitoyl protein thioesterase 1; palmitoyl-protein hydrolase 1 (PPT1, PPT)

Function

• removes thioester (CYS)-linked fatty acyl groups (palmitate) from proteins or peptides during lysosomal degradation
• prefers acyl chain lengths of 14-18 carbons

Structure

belongs to the palmitoyl-protein thioesterase family

Compartment

lysosome

Pathology

• defects in PPT1 are the cause of
  • infantile neuronal ceroid lipofuscinosis 1
  • juvenile NCL with granular osmiophilic deposits
  • neuronal ceroid lipofuscinosis 4 (CLN4, Kufs disease)

* NCL = neuronal ceroid lipofuscinosis

More general terms

• thiol esterase or thioesterase

Database

• OMIM: https://mirror.omim.org/entry/600722
• OMIM: https://mirror.omim.org/entry/204300
• OMIM: https://mirror.omim.org/entry/256730
• OMIM: https://mirror.omim.org/entry/600680
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5538
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5538
• UniProt: http://www.uniprot.org/uniprot/P50897.html