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:3534 | Lafora disease | |
DOID:3535 | Unverricht-Lundborg syndrome | |
DOID:4090 | agnosia | |
DOID:4428 | dyslexia | |
DOID:4766 | embryoma | |
DOID:4964 | neurotic disorder | |
DOID:529 | blepharospasm | |
DOID:5418 | schizoaffective disorder | |
DOID:5419 | schizophrenia | |
DOID:5823 | childhood lymphoma |
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 |
---|---|---|---|
113898510 | BOBOX27299 | ||
101064710 | TAKRU15327 | ||
102798438 | NEOBR12379 | ||
108240062 | KRYMA15426 | ||
105717564 | AOTNA05345 | ||
111235445 | SERDU01872 | ||
103134907 | POEFO00364 | ||
117016579 | RHIFE11332 | ||
100223137 | TAEGU20894 | ||
103240208 | CHLSB03629 |
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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