UniProt | Protein Name |
---|---|
A0A0S2A4E4 |
|
P35573 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glycogen catabolic process | ||
response to glucocorticoid | ||
response to nutrient | ||
glycogen biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
isoamylase complex | ||
secretory granule lumen | ||
sarcoplasmic reticulum | ||
ficolin-1-rich granule lumen |
GO Term | Evidence Code | PMID |
---|---|---|
4-alpha-glucanotransferase activity | ||
beta-maltose 4-alpha-glucanotransferase activity | ||
glycogen debranching enzyme activity | ||
protein binding | ||
amylo-alpha-1,6-glucosidase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:11727 | facioscapulohumeral muscular dystrophy | |
DOID:11984 | hypertrophic cardiomyopathy | |
DOID:12932 | endomyocardial fibrosis | |
DOID:1324 | lung cancer | |
DOID:1520 | colon carcinoma | |
DOID:1525 | nodular nonsuppurative panniculitis | |
DOID:1526 | panniculitis | |
DOID:162 | cancer | |
DOID:1883 | hepatitis C | |
DOID:219 | colon cancer |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000219 | Thin upper lip vermilion |
HP:0000233 | Thin vermilion border |
HP:0000272 | Malar flattening |
HP:0000293 | Full cheeks |
HP:0000455 | Broad nasal tip |
HP:0000490 | Deeply set eye |
HP:0001256 | Intellectual disability, mild |
HP:0001324 | Muscle weakness |
HP:0001395 | Hepatic fibrosis |
Disease ID | Disease Name |
---|---|
OMIM:232400 |
|
ORPHA:366 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
108715682 | Xenbase:XB-GENE-17346695 | ||
780065 | Xenbase:XB-GENE-1001429 | ||
101952161 | CHRPI14064 | ||
109306970 | CROPO13740 | ||
113436114 | PSETE07265 | ||
103814871 | SERCA08186 | ||
100081547 | ORNAN20134 | ||
100393172 | CALJA41536 | ||
102141897 | MACFA21808 | ||
710910 | MACMU24389 |
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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