UniProt | Protein Name |
---|---|
P50897 |
|
GO Term | Evidence Code | PMID |
---|---|---|
neurotransmitter secretion | ||
negative regulation of apoptotic process | ||
brain development | ||
positive regulation of pinocytosis | ||
nervous system development |
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 |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110722 | neuronal ceroid lipofuscinosis 7 | |
DOID:0110723 | neuronal ceroid lipofuscinosis 8 | |
DOID:0110724 | neuronal ceroid lipofuscinosis 8 northern epilepsy variant | |
DOID:0110725 | neuronal ceroid lipofuscinosis 10 | |
DOID:0110726 | neuronal ceroid lipofuscinosis 2 | |
DOID:0110727 | neuronal ceroid lipofuscinosis 13 | |
DOID:0110728 | neuronal ceroid lipofuscinosis 5 | |
DOID:0110729 | neuronal ceroid lipofuscinosis 6A | |
DOID:0110730 | neuronal ceroid lipofuscinosis 6B | |
DOID:0110731 | neuronal ceroid lipofuscinosis 3 |
HPO ID | HPO Term |
---|---|
HP:0007183 | Focal T2 hyperintense basal ganglia lesion |
HP:0007256 | Abnormal pyramidal sign |
HP:0007359 | Focal-onset seizure |
HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
HP:0007371 | Corpus callosum atrophy |
HP:0007663 | Reduced visual acuity |
HP:0007987 | Progressive visual field defects |
HP:0008770 | Obsessive-compulsive trait |
HP:0010536 | Central sleep apnea |
HP:0010819 | Atonic seizure |
Disease ID | Disease Name |
---|---|
ORPHA:168491 |
|
OMIM:256730 |
|
ORPHA:79263 |
|
ORPHA:79264 |
|
ORPHA:79262 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
109318370 | CROPO24259 | ||
113437572 | PSETE08731 | ||
100077897 | ORNAN08375 | ||
100403808 | CALJA40070 | ||
105594706 | CERAT05857 | ||
102126191 | MACFA22722 | ||
693377 | MACMU21827 | ||
105494797 | MACNE01988 | ||
101002867 | PAPAN19350 | ||
101154001 | GORGO18218 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024