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Gene Information
Gene ID:5538
Symbol:PPT1
Full Name:palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile)
Alias:CLN1|INCL|PPT
Organism:Homo sapiens (Human)
Chromosome:1
Genetic Location:1p32
Physical Location:40310968-40335554 on NC_000001.9, complement
Gene Type:protein-coding
Orthologs:This gene has Mouse: 19063 ortholog(s) in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:PPT1
Dataset Information
Name:Literature Search
Method:Literature search
Summary:We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000310.2NP_000301.1NC_000001.9 range: 40310968..40335554, complement
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005829cytosolCellular ComponentISS
GO:0045121membrane raftCellular ComponentIDA (15929065)
GO:0005794Golgi apparatusCellular ComponentIDA (7637805)
GO:0005764lysosomeCellular ComponentISS
GO:0005764lysosomeCellular ComponentIDA (8895569|11020216)
GO:0005634nucleusCellular ComponentIDA (10992246)
GO:0005624membrane fractionCellular ComponentISS
GO:0005576extracellular regionCellular ComponentISS
GO:0005576extracellular regionCellular ComponentIDA (8895569)
GO:0008021synaptic vesicleCellular ComponentIDA (12483688)
GO:0030424axonCellular ComponentIDA (12483688)
GO:0008474palmitoyl-(protein) hydrolase activityMolecular FunctionIMP (7637805)
GO:0016290palmitoyl-CoA hydrolase activityMolecular FunctionIDA (10658183)
GO:0016290palmitoyl-CoA hydrolase activityMolecular FunctionISS
GO:0008474palmitoyl-(protein) hydrolase activityMolecular FunctionISS
GO:0016787hydrolase activityMolecular FunctionIEA
GO:0008474palmitoyl-(protein) hydrolase activityMolecular FunctionIDA (10658183|10737604)
GO:0030308negative regulation of cell growthBiological ProcessIMP (10737604)
GO:0031579membrane raft organization and biogenesisBiological ProcessIMP (15929065)
GO:0043524negative regulation of neuron apoptosisBiological ProcessIMP (10737604|11020216)
GO:0048260positive regulation of receptor-mediated endocytosisBiological ProcessIMP (16542649)
GO:0048549positive regulation of pinocytosisBiological ProcessIMP (16542649)
GO:0048666neuron developmentBiological ProcessTAS (11136716)
GO:0050803regulation of synapse structure and activityBiological ProcessNAS (11136716)
GO:0050896response to stimulusBiological ProcessIEA
GO:0051181cofactor transportBiological ProcessIMP (16542649)
GO:0030163protein catabolic processBiological ProcessNAS (10740217)
GO:0030149sphingolipid catabolic processBiological ProcessTAS (16542649)
GO:0002084protein depalmitoylationBiological ProcessISS
GO:0006309DNA fragmentation during apoptosisBiological ProcessIDA (15929065)
GO:0006464protein modification processBiological ProcessIEA
GO:0007042lysosomal lumen acidificationBiological ProcessIMP (11722572)
GO:0007399nervous system developmentBiological ProcessIMP (7637805)
GO:0007420brain developmentBiological ProcessIEP (10992246)
GO:0007420brain developmentBiological ProcessIMP (7637805)
GO:0007601visual perceptionBiological ProcessIEA
GO:0002084protein depalmitoylationBiological ProcessIDA (10658183|10737604)
GO:0015031protein transportBiological ProcessIMP (10737604)
GO:0016042lipid catabolic processBiological ProcessIDA (8816748)
GO:0051186cofactor metabolic processBiological ProcessIMP (16542649)
Other Database Cross Links
NCBI Entrez Gene:5538
HGNC:9325
Ensembl:ENSG00000131238
MIM:600722
HPRD:07203
HuGE Navigator:5538
dbSNP:PPT1
GeneCard:PPT1
AceView:PPT1