PPT1

Palmitoyl-protein thioesterase 1 (PPT-1), also known as palmitoyl-protein hydrolase 1, is an enzyme that in humans is encoded by the PPT1 gene.^[5][6][7]

PPT1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3GRO
Identifiers
Aliases	PPT1, CLN1, INCL, PPT, palmitoyl-protein thioesterase 1
External IDs	OMIM: 600722; MGI: 1298204; HomoloGene: 7488; GeneCards: PPT1; OMA:PPT1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p34.2 Start 40,072,710 bp[1] End 40,097,260 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 D2.2|4 57.27 cM Start 122,730,035 bp[2] End 122,752,968 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte lateral nuclear group of thalamus retinal pigment epithelium external globus pallidus pons granulocyte parotid gland pars compacta blood pars reticulata Top expressed in medial vestibular nucleus deep cerebellar nuclei seminiferous tubule right kidney pontine nuclei dorsal tegmental nucleus cerebellar cortex median eminence globus pallidus arcuate nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function palmitoyl-CoA hydrolase activity palmitoyl hydrolase activity hydrolase activity palmitoyl-(protein) hydrolase activity protein binding Cellular component cytosol Golgi apparatus membrane lysosomal lumen membrane raft lysosome extracellular exosome nucleus extracellular region synaptic vesicle axon extracellular space dendrite neuron projection soma synapse Biological process negative regulation of neuron apoptotic process positive regulation of pinocytosis positive regulation of receptor-mediated endocytosis lysosomal lumen acidification response to stimulus neuron development negative regulation of apoptotic process receptor-mediated endocytosis nervous system development lipid catabolic process brain development membrane raft organization protein catabolic process sphingolipid catabolic process negative regulation of cell growth protein transport protein depalmitoylation pinocytosis regulation of synapse structure or activity visual perception fatty-acyl-CoA biosynthetic process chemical synaptic transmission lysosome organization neurotransmitter secretion grooming behavior associative learning adult locomotory behavior regulation of phospholipase A2 activity cellular macromolecule catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5538 19063 Ensembl ENSG00000131238 ENSMUSG00000028657 UniProt P50897 O88531 RefSeq (mRNA) NM_000310 NM_001142604 NM_001363695 NM_008917 RefSeq (protein) NP_000301 NP_001136076 NP_001350624 NP_032943 Location (UCSC) Chr 1: 40.07 – 40.1 Mb Chr 4: 122.73 – 122.75 Mb PubMed search [3] [4]
Wikidata
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Function

PPT-1 a member of the palmitoyl protein thioesterase family. PPT-1 is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. This enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues.^[5]

Clinical significance

Defects in this gene are a cause of neuronal ceroid lipofuscinosis type 1 (CLN1).^[8]