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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
palmitoyl-protein thioesterase 1
Summary
- Gene Symbol
-
- PPT1
- Aliases
-
- CLN1
- INCL
- ceroid-lipofuscinosis, neuronal 1, infantile
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Disease variant
- Disulfide bond
- Glycoprotein
- Hydrolase
- Lysosome
- Neuronal ceroid lipofuscinosis
- Reference proteome
- Secreted
- Signal
- Vision
- Proteins
| UniProt | Protein Name |
|---|---|
| P50897 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| grooming behavior | ||
| visual perception | ||
| positive regulation of receptor-mediated endocytosis | ||
| pinocytosis | ||
| associative learning |
GO Hierarchy
biological process
metabolic process [inference]
nitrogen compound metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
cellular nitrogen compound biosynthetic process [inference]
organonitrogen compound metabolic process [inference]
biosynthetic process [inference]
cellular metabolic process [inference]
cellular aromatic compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
aromatic compound biosynthetic process [inference]
phosphorus metabolic process [inference]
phosphate-containing compound metabolic process [inference]
organophosphate metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
cellular nitrogen compound biosynthetic process [inference]
cellular biosynthetic process [inference]
heterocycle metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
heterocycle biosynthetic process [inference]
primary metabolic process [inference]
small molecule metabolic process [inference]
organic substance metabolic process [inference]
organophosphate metabolic process [inference]
organic cyclic compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
purine-containing compound metabolic process [inference]
organonitrogen compound metabolic process [inference]
organic substance biosynthetic process [inference]
cellular process [inference]
cellular metabolic process [inference]
cellular aromatic compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
aromatic compound biosynthetic process [inference]
phosphorus metabolic process [inference]
phosphate-containing compound metabolic process [inference]
organophosphate metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
cellular nitrogen compound biosynthetic process [inference]
cellular biosynthetic process [inference]
heterocycle metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
heterocycle biosynthetic process [inference]
homeostatic process [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of immune system process [inference]
regulation of signaling [inference]
regulation of localization [inference]
regulation of response to stimulus [inference]
regulation of cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleus | ||
| intracellular membrane-bounded organelle | ||
| cytosol | ||
| extracellular region | ||
| synaptic vesicle |
| GO Term | Evidence Code | PMID |
|---|---|---|
| lysophosphatidic acid binding | ||
| sulfatide binding | ||
| palmitoyl-(protein) hydrolase activity | ||
| protein binding | ||
| long-chain acyl-CoA hydrolase activity |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050635 | alternating hemiplegia of childhood | |
| DOID:0050817 | Stargardt disease | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0060823 | syndromic X-linked intellectual disability 94 | |
| DOID:0080348 | Alzheimer's disease 1 | |
| DOID:0090103 | Huntington's disease-like 1 | |
| DOID:0090104 | Huntington's disease-like 2 | |
| DOID:0110035 | Alzheimer's disease 2 | |
| DOID:0110037 | Alzheimer's disease 5 | |
| DOID:0110038 | Alzheimer's disease 6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002197 | Generalized-onset seizure |
| HP:0002275 | Poor motor coordination |
| HP:0002312 | Clumsiness |
| HP:0002317 | Unsteady gait |
| HP:0002333 | Motor deterioration |
| HP:0002353 | EEG abnormality |
| HP:0002360 | Sleep abnormality |
| HP:0002361 | Psychomotor deterioration |
| Disease ID | Disease Name |
|---|---|
| ORPHA:168491 |
|
| OMIM:256730 |
|
| ORPHA:79263 |
|
| ORPHA:79264 |
|
| ORPHA:79262 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP002384
- Gene Name
- palmitoyl-protein thioesterase 1
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 29411 | RGD:61994 | RATNO34701 | |
| 100720295 | CAVPO23603 | ||
| 101560928 | OCTDE19791 | ||
| 101718692 | HETGA26200 | ||
| 101868444 | MELUD20068 | ||
| 100032080 | MONDO22911 | ||
| 102450927 | PELSI01471 | ||
| 100563048 | ANOCA13148 | ||
| 103682394 | URSMA32745 | ||
| 114044932 | VOMUR17720 |
