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: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:0000007 | Autosomal recessive inheritance |
HP:0000572 | Visual loss |
HP:0000709 | Psychosis |
HP:0000712 | Emotional lability |
HP:0000716 | Depression |
HP:0000726 | Dementia |
HP:0000992 | Cutaneous photosensitivity |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001257 | Spasticity |
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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Last updated: August 19, 2024