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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 |
|---|---|---|
| protein depalmitoylation | ||
| protein depalmitoylation | ||
| endocytosis | ||
| receptor-mediated endocytosis | ||
| pinocytosis |
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 |
|---|---|---|
| extracellular region | ||
| extracellular region | ||
| extracellular region | ||
| nucleus | ||
| lysosome |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| palmitoyl-(protein) hydrolase activity | ||
| palmitoyl-(protein) hydrolase activity | ||
| palmitoyl-(protein) hydrolase activity | ||
| palmitoyl-(protein) hydrolase activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- palmitoyl protein
- Functional Category
-
- G: Carbohydrate transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| hydrolase activity |
| macromolecule depalmitoylation |
| nervous system development |
| palmitoyl hydrolase activity |
| palmitoyl-(protein) hydrolase activity |
| receptor-mediated endocytosis |
| InterPro |
|---|
| Alpha/Beta hydrolase fold |
| Palmitoyl protein thioesterase |
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:0110721 | neuronal ceroid lipofuscinosis 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000253 | Progressive microcephaly |
| HP:0000483 | Astigmatism |
| HP:0000529 | Progressive visual loss |
| HP:0000543 | Optic disc pallor |
| HP:0000545 | Myopia |
| HP:0000546 | Retinal degeneration |
| HP:0000550 | Undetectable electroretinogram |
| HP:0000572 | Visual loss |
| HP:0000580 | Pigmentary retinopathy |
| Disease ID | Disease Name |
|---|---|
| OMIM:256730 |
|
| ORPHA:168491 |
|
| ORPHA:79262 |
|
| ORPHA:79264 |
|
| ORPHA:79263 |
|
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 |
|---|---|---|---|
| 5538 | Xenbase:XB-GENE-923070 | ||
| 19063 | Xenbase:XB-GENE-923070 | MOUSE41762 | |
| 29411 | Xenbase:XB-GENE-923070 | RATNO34701 | |
| 31805 | Xenbase:XB-GENE-923070 | ||
| 191744 | Xenbase:XB-GENE-923070 | ||
| 281421 | BOVIN27228 | ||
| 406648 | DANRE16023 | ||
| 456789 | PANTR20750 | ||
| 475316 | CANLF03912 | ||
| 693377 | MACMU21827 |
