UniProt | Protein Name |
---|---|
A0A2R8Y891 |
|
A0A024R0Y5 |
|
P08237 |
|
GO Term | Evidence Code | PMID |
---|---|---|
muscle cell cellular homeostasis | ||
positive regulation of transcription by RNA polymerase II | ||
glycolysis from storage polysaccharide through glucose-1-phosphate | ||
glycogen catabolic process | ||
fructose 6-phosphate metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
fructose-6-phosphate binding | ||
6-phosphofructokinase activity | ||
kinase binding | ||
AMP binding | ||
monosaccharide binding |
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:0090031 | D-bifunctional protein deficiency | |
DOID:0090129 | carnitine palmitoyltransferase I deficiency | |
DOID:0111040 | glycogen storage disease IXd | |
DOID:0111041 | glycogen storage disease IXb | |
DOID:0111042 | glycogen storage disease IXa | |
DOID:0111043 | glycogen storage disease IXc | |
DOID:10211 | cholelithiasis | |
DOID:11151 | cholecystolithiasis | |
DOID:11721 | glycogen storage disease VII |
HPO ID | HPO Term |
---|---|
HP:0002486 | Myotonia |
HP:0003202 | Skeletal muscle atrophy |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0003326 | Myalgia |
HP:0003388 | Easy fatigability |
HP:0003546 | Exercise intolerance |
HP:0003557 | Increased variability in muscle fiber diameter |
HP:0003573 | Increased total bilirubin |
HP:0003621 | Juvenile onset |
HP:0003710 | Exercise-induced muscle cramps |
Disease ID | Disease Name |
---|---|
OMIM:232800 |
|
ORPHA:371 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
122224477 | PANLE17423 | ||
118901792 | BALMU03493 | ||
100676111 | LOXAF19259 | ||
100034116 | HORSE36717 | ||
733601 | PIGXX26581 | ||
506544 | BOVIN29322 | ||
102186091 | CAPHI24568 | ||
443489 | SHEEP14391 | ||
100345647 | RABIT17709 | ||
105987540 | DIPOR13251 |
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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