InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PPT1

Summary

InnateDB Protein

IDBP-381186.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PPT1

Protein Name

palmitoyl-protein thioesterase 1

Synonyms

CLN1; INCL; PPT;

Species

Homo sapiens

Ensembl Protein

ENSP00000392293

InnateDB Gene

IDBG-96867 (PPT1)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Lysosome.

Disease Associations

Ceroid lipofuscinosis, neuronal, 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). {ECO:0000269PubMed:11506414, ECO:0000269PubMed:19201763, ECO:0000269PubMed:21990111, ECO:0000269PubMed:7637805, ECO:0000269PubMed:9425237, ECO:0000269PubMed:9664077}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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:0007042	lysosomal lumen acidification
GO:0007399	nervous system development
GO:0007420	brain development
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:0043066	negative regulation of apoptotic process
GO:0043524	negative regulation of neuron apoptotic 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:0005634	nucleus
GO:0005764	lysosome
GO:0005794	Golgi apparatus
GO:0005829	cytosol
GO:0008021	synaptic vesicle
GO:0016020	membrane
GO:0030424	axon
GO:0045121	membrane raft
GO:0070062	extracellular vesicular exosome