UniProt | Protein Name |
---|---|
O95278 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glycogen biosynthetic process |
|
|
positive regulation of macroautophagy | ||
mitochondrion organization |
|
|
negative regulation of gene expression |
|
|
regulation of protein import into nucleus |
|
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 |
---|---|---|---|
100409236 | CALJA31805 | ||
105588793 | CERAT02590 | ||
699361 | MACMU34093 | ||
105488972 | MACNE10403 | ||
101007529 | PAPAN34746 | ||
748434 | PANTR39244 | ||
100450107 | PONAB31718 | ||
112919497 | VULVU11734 | ||
123797413 | URSAM23179 | ||
101096812 | FELCA10734 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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