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 |
---|---|---|
plasma membrane |
|
|
nucleoplasm |
|
|
perikaryon |
|
GO Term | Evidence Code | PMID |
---|---|---|
protein binding | ||
protein dimerization activity |
|
|
glycogen binding |
|
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: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 |
---|---|---|---|
122220465 | PANLE16311 | ||
118905237 | BALMU27021 | ||
100659008 | LOXAF20497 | ||
526888 | BOVIN35929 | ||
105993631 | DIPOR13175 | ||
13853 | MGI:1341085 | MOUSE01898 | |
114005 | RGD:71047 | RATNO17040 | |
100731363 | CAVPO19127 | ||
101563212 | OCTDE05991 | ||
107086044 | CYPVA08819 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024