PPT1

PPT1 is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4).

Full Name

palmitoyl-protein thioesterase 1

Function

Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons (PubMed:8816748).

Biological Process

Adult locomotory behaviorIEA:Ensembl
Associative learningIEA:Ensembl
Brain developmentManual Assertion Based On ExperimentIMP:UniProtKB
Cellular macromolecule catabolic processIEA:Ensembl
Fatty-acyl-CoA biosynthetic processTAS:Reactome
Grooming behaviorIEA:Ensembl
Lipid catabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Lysosomal lumen acidificationManual Assertion Based On ExperimentIMP:UniProtKB
Membrane raft organizationManual Assertion Based On ExperimentIMP:UniProtKB
Negative regulation of apoptotic processManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of cell growthManual Assertion Based On ExperimentIMP:UniProtKB
Negative regulation of neuron apoptotic processManual Assertion Based On ExperimentIMP:UniProtKB
Nervous system developmentManual Assertion Based On ExperimentIMP:UniProtKB
Neuron developmentManual Assertion Based On ExperimentTAS:UniProtKB
Neurotransmitter secretionIEA:Ensembl
PinocytosisManual Assertion Based On ExperimentIMP:MGI
Positive regulation of pinocytosisManual Assertion Based On ExperimentIMP:UniProtKB
Positive regulation of receptor-mediated endocytosisManual Assertion Based On ExperimentIMP:UniProtKB
Protein catabolic process1 PublicationNAS:UniProtKB
Protein depalmitoylationManual Assertion Based On ExperimentIDA:UniProtKB
Protein transportManual Assertion Based On ExperimentIMP:UniProtKB
Receptor-mediated endocytosisManual Assertion Based On ExperimentIMP:MGI
Regulation of phospholipase A2 activityIEA:Ensembl
Regulation of synapse structure or activity1 PublicationNAS:UniProtKB
Response to stimulusIEA:UniProtKB-KW
Sphingolipid catabolic processManual Assertion Based On ExperimentTAS:UniProtKB
Visual perceptionIEA:UniProtKB-KW

Cellular Location

Lysosome
Secreted

Involvement in disease

Ceroid lipofuscinosis, neuronal, 1 (CLN1):
A form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD).

PTM

Glycosylated.