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 |
---|---|---|
protein binding | ||
protein dimerization activity |
|
|
glycogen binding |
|
DO ID | Disease Name | Source |
---|---|---|
DOID:0110731 | neuronal ceroid lipofuscinosis 3 | |
DOID:0110732 | neuronal ceroid lipofuscinosis 11 | |
DOID:0110733 | neuronal ceroid lipofuscinosis 9 | |
DOID:0111040 | glycogen storage disease IXd | |
DOID:0111041 | glycogen storage disease IXb | |
DOID:0111042 | glycogen storage disease IXa | |
DOID:0111043 | glycogen storage disease IXc | |
DOID:0111444 | progressive myoclonus epilepsy 4 | |
DOID:0111452 | progressive myoclonus epilepsy 1A | |
DOID:10588 | adrenoleukodystrophy |
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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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024