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:0000007 | Autosomal recessive inheritance |
HP:0000790 | Hematuria |
HP:0000952 | Jaundice |
HP:0001081 | Cholelithiasis |
HP:0001324 | Muscle weakness |
HP:0001878 | Hemolytic anemia |
HP:0001903 | Anemia |
HP:0001923 | Reticulocytosis |
HP:0001997 | Gout |
HP:0002149 | Hyperuricemia |
Disease ID | Disease Name |
---|---|
OMIM:232800 |
|
ORPHA:371 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100960601 | OTOGA08858 | ||
102024135 | CHILA20470 | ||
105709464 | AOTNA26967 | ||
105721881 | AOTNA26967 | ||
110201468 | PHACI34881 | ||
101962757 | ICTTR08346 | ||
101609130 | JACJA20407 | ||
118309995 | SCOMX27690 | ||
102427855 | MYOLU06735 | ||
117028543 | RHIFE09445 |
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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