UniProt | Protein Name |
---|---|
P46976 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glycosyltransferase activity | ||
glycogenin glucosyltransferase activity | ||
protein homodimerization activity | ||
manganese ion binding | ||
UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0014667 | disease of metabolism | |
DOID:0050579 | glycogen storage disease XV | |
DOID:0050700 | cardiomyopathy | |
DOID:0060674 | catecholaminergic polymorphic ventricular tachycardia | |
DOID:0060675 | catecholaminergic polymorphic ventricular tachycardia 1 | |
DOID:0060676 | catecholaminergic polymorphic ventricular tachycardia 2 | |
DOID:0060677 | catecholaminergic polymorphic ventricular tachycardia 3 | |
DOID:0060678 | catecholaminergic polymorphic ventricular tachycardia 4 | |
DOID:0060679 | catecholaminergic polymorphic ventricular tachycardia 5 | |
DOID:0111040 | glycogen storage disease IXd |
HPO ID | HPO Term |
---|---|
HP:0009027 | Foot dorsiflexor weakness |
HP:0010546 | Muscle fibrillation |
HP:0010872 | T-wave inversion |
HP:0011462 | Young adult onset |
HP:0011463 | Childhood onset |
HP:0011675 | Arrhythmia |
HP:0011712 | Right bundle branch block |
HP:0011727 | Peroneal muscle weakness |
HP:0012251 | ST segment elevation |
HP:0012270 | Decreased muscle glycogen content |
Disease ID | Disease Name |
---|---|
ORPHA:263297 |
|
OMIM:613507 |
|
OMIM:616199 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
105587508 | CERAT33227 | ||
101926679 | MACFA26252 | ||
712495 | MACMU28967 | ||
105470044 | MACNE09132 | ||
101130219 | GORGO28711 | ||
460765 | PANTR32405 | ||
100434629 | PONAB26693 | ||
611614 | CANLF09171 | ||
123802372 | URSAM11610 | ||
101694122 | MUSPF12122 |
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