ID:PPT1_HUMAN DESCRIPTION: RecName: Full=Palmitoyl-protein thioesterase 1; Short=PPT-1; EC=3.1.2.22; AltName: Full=Palmitoyl-protein hydrolase 1; Flags: Precursor; 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. CATALYTIC ACTIVITY: Palmitoyl-[protein] + H(2)O = palmitate + [protein]. SUBCELLULAR LOCATION: Lysosome. DISEASE: Defects in PPT1 are the cause of neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]. 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). SIMILARITY: Belongs to the palmitoyl-protein thioesterase family. WEB RESOURCE: Name=NCL CLN1; Note=Neural Ceroid Lipofuscinoses mutation db; URL="http://www.ucl.ac.uk/ncl/cln1.shtml"; WEB RESOURCE: Name=Mutations of the PPT1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/pptmut.htm"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PPT1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P50897
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0002084 protein depalmitoylation GO:0006898 receptor-mediated endocytosis GO:0006907 pinocytosis GO:0007040 lysosome organization GO:0007042 lysosomal lumen acidification GO:0007268 chemical synaptic transmission GO:0007269 neurotransmitter secretion GO:0007399 nervous system development GO:0007420 brain development GO:0007601 visual perception GO:0007625 grooming behavior GO:0008306 associative learning GO:0008344 adult locomotory behavior GO:0015031 protein transport GO:0016042 lipid catabolic process GO:0030149 sphingolipid catabolic process GO:0030163 protein catabolic process GO:0030308 negative regulation of cell growth GO:0031579 membrane raft organization GO:0032429 regulation of phospholipase A2 activity GO:0043066 negative regulation of apoptotic process GO:0043524 negative regulation of neuron apoptotic process GO:0044257 cellular protein catabolic process GO:0044265 cellular macromolecule catabolic process GO:0046949 fatty-acyl-CoA biosynthetic process GO:0048260 positive regulation of receptor-mediated endocytosis GO:0048549 positive regulation of pinocytosis GO:0048666 neuron development GO:0050803 regulation of synapse structure or activity GO:0050896 response to stimulus GO:0051181 cofactor transport GO:0051186 cofactor metabolic process
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
