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 |
---|---|---|
myosin phosphatase activity |
|
|
protein tyrosine/serine/threonine phosphatase activity |
|
|
protein tyrosine phosphatase activity |
|
|
carbohydrate binding |
|
|
carbohydrate phosphatase activity |
|
DO ID | Disease Name | Source |
---|---|---|
DOID:0110721 | neuronal ceroid lipofuscinosis 1 | |
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 |
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 |
---|---|---|---|
103191235 | CALMI45213 | ||
100535304 | ZFIN:ZDB-GENE-100922-143 | DANRE24905 | |
103043247 | ASTMX01950 | ||
108275481 | ICTPU07342 | ||
113570324 | ELEEL04801 | ||
105029902 | ESOLU53564 | ||
106608000 | SALSA131453 | ||
115179967 | SALTR25985 | ||
115534459 | GADMO32158 | ||
101165611 | ORYLA11562 |
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Last updated: August 19, 2024