Homo sapiens Gene: PPT1
Summary
InnateDB Gene IDBG-96867.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PPT1
Gene Name palmitoyl-protein thioesterase 1
Synonyms CLN1; INCL; PPT;
Species Homo sapiens
Ensembl Gene ENSG00000131238
Encoded Proteins
palmitoyl-protein thioesterase 1
palmitoyl-protein thioesterase 1
palmitoyl-protein thioesterase 1
palmitoyl-protein thioesterase 1
palmitoyl-protein thioesterase 1
palmitoyl-protein thioesterase 1
palmitoyl-protein thioesterase 1
palmitoyl-protein thioesterase 1
palmitoyl-protein thioesterase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene 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). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:40072705-40097703
Strand Reverse strand
Band p34.2
Transcripts
ENST00000372779 ENSP00000361865
ENST00000372775
ENST00000433473 ENSP00000394863
ENST00000449045 ENSP00000392293
ENST00000439754 ENSP00000403207
ENST00000529905 ENSP00000432053
ENST00000530704 ENSP00000431655
ENST00000530076 ENSP00000434007
ENST00000527311 ENSP00000436695
ENST00000526547 ENSP00000436481
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 13 [view]
Protein-Protein 13 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0008474 palmitoyl-(protein) hydrolase activity
GO:0016290 palmitoyl-CoA hydrolase activity
Biological Process
GO:0002084 protein depalmitoylation
GO:0006309 apoptotic DNA fragmentation
GO:0006464 cellular protein modification process
GO:0006898 receptor-mediated endocytosis
GO:0006907 pinocytosis
GO:0007040 lysosome organization
GO:0007042 lysosomal lumen acidification
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:0048260 positive regulation of receptor-mediated endocytosis
GO:0048549 positive regulation of pinocytosis
GO:0048666 neuron development
GO:0050803 regulation of synapse structure and activity
GO:0051181 cofactor transport
GO:0051186 cofactor metabolic process
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005764 lysosome
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0008021 synaptic vesicle
GO:0016020 membrane
GO:0030424 axon
GO:0030425 dendrite
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0045121 membrane raft
GO:0045202 synapse
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Fatty acid elongation pathway
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.3873
RefSeq NM_000310 NM_001142604
HUGO
OMIM
CCDS CCDS44119 CCDS447
HPRD 07203
IMGT
EMBL
GenPept
RNA Seq Atlas