InterPro domain: IPR002472

This entry represents the palmitoyl protein thioesterase family. Its members include palmitoyl-protein thioesterase 1 and lysosomal thioesterase 2 (PPT1 and PPT2). PPT1 is responsible for the removal of a palmitate group from its substrate proteins, which may include presynaptic proteins like SNAP-25, cysteine string protein (CSP), dynamin, and synaptotagmin [ 1 ]. PPT2 removes thioester-linked fatty acyl groups from various substrates including S-palmitoyl-CoA [ 2 ]. PPT1 and -2 perform non-redundant roles in lysosomal thioester catabolism [ 3 ].

Mutations in the PPT1 gene cause infantile-onset neuronal ceroid lipofuscinosis (INCL), which is a severe pediatric neurodegenerative disorder [ 3 ].

This entry also includes uncharacterised proteins from fungi and plants.

1. Mutations in palmitoyl-protein thioesterase 1 alter exocytosis and endocytosis at synapses in Drosophila larvae. Fly (Austin) 7, 267-79
2. The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2. J. Biol. Chem. 278, 37957-64
3. Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease). Biochim. Biophys. Acta 1832, 1906-9