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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 |
|---|---|---|
| Golgi apparatus | ||
| membrane raft | ||
| lysosomal lumen |
|
|
| extracellular exosome | ||
| lysosome |
| 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: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 |
|---|---|
| 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 |
|---|---|---|---|
| 113890081 | BOBOX07883 | ||
| 102529717 | VICPA03019 | ||
| 105855066 | MICMU00080 | ||
| 100944130 | OTOGA04276 | ||
| 101078772 | TAKRU05229 | ||
| 102003937 | CHILA13643 | ||
| 105707978 | AOTNA16310 | ||
| 110206304 | PHACI03017 | ||
| 101038156 | SAIBB27753 | ||
| 101970007 | ICTTR09053 |
