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:0000007 | Autosomal recessive inheritance |
HP:0000819 | Diabetes mellitus |
HP:0000821 | Hypothyroidism |
HP:0001324 | Muscle weakness |
HP:0001638 | Cardiomyopathy |
HP:0001663 | Ventricular fibrillation |
HP:0001714 | Ventricular hypertrophy |
HP:0001962 | Palpitations |
HP:0002321 | Vertigo |
HP:0002355 | Difficulty walking |
Disease ID | Disease Name |
---|---|
ORPHA:263297 |
|
OMIM:613507 |
|
OMIM:616199 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
180119 | WB:WBGene00012020 | ||
37419 | FB:FBgn0265191 | ||
103184449 | CALMI29934 | ||
102348178 | LATCH05099 | ||
406831 | ZFIN:ZDB-GENE-040426-2910 | DANRE28991 | |
415152 | ZFIN:ZDB-GENE-040625-30 | DANRE25551 | |
100528900 | ICTPU14692 | ||
113576495 | ELEEL18562 | ||
113584768 | ELEEL34157 | ||
106579759 | SALSA94531 |
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
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024