UniProt | Protein Name |
---|---|
O95278 |
|
GO Term | Evidence Code | PMID |
---|---|---|
negative regulation of TOR signaling | ||
negative regulation of peptidyl-serine phosphorylation |
|
|
regulation of protein localization to plasma membrane |
|
|
proteasome-mediated ubiquitin-dependent protein catabolic process |
|
|
calcium ion transport |
|
GO Term | Evidence Code | PMID |
---|---|---|
phosphatase activity |
|
|
glycogen (starch) synthase activity |
|
|
starch binding |
|
|
protein serine/threonine phosphatase activity |
|
|
protein homodimerization activity |
|
DO ID | Disease Name | Source |
---|---|---|
DOID:0050776 | non-syndromic X-linked intellectual disability | |
DOID:0050841 | focal hand dystonia | |
DOID:0060058 | lymphoma | |
DOID:0060135 | apraxia | |
DOID:0060162 | dentatorubral-pallidoluysian atrophy | |
DOID:0060171 | obsolete Dravet syndrome | |
DOID:0060215 | Balo concentric sclerosis | |
DOID:0060281 | photosensitive epilepsy | |
DOID:0080422 | Dravet syndrome | |
DOID:0110720 | neuronal ceroid lipofuscinosis 4 |
HPO ID | HPO Term |
---|---|
HP:0002123 | Generalized myoclonic seizure |
HP:0002133 | Status epilepticus |
HP:0002186 | Apraxia |
HP:0002315 | Headache |
HP:0002344 | Progressive neurologic deterioration |
HP:0002360 | Sleep abnormality |
HP:0002367 | Visual hallucination |
HP:0002384 | Focal impaired awareness seizure |
HP:0002521 | Hypsarrhythmia |
HP:0002540 | Inability to walk |
Disease ID | Disease Name |
---|---|
ORPHA:501 |
|
OMIM:254780 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
109080985 | CYPCA115813 | ||
116440858 | CORMO18012 | ||
115613561 | STRHB13439 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024