UniProt | Protein Name |
---|---|
Q9BT40 |
|
GO Term | Evidence Code | PMID |
---|---|---|
negative regulation of protein kinase activity | ||
negative regulation of peptidyl-serine phosphorylation | ||
actin cytoskeleton organization |
|
|
regulation of glycogen biosynthetic process | ||
G protein-coupled receptor signaling pathway |
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity | ||
inositol trisphosphate phosphatase activity | ||
phosphatidylinositol trisphosphate phosphatase activity | ||
inositol bisphosphate phosphatase activity | ||
phosphatidylinositol phosphate 5-phosphatase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:0110241 | cataract 41 | |
DOID:0110242 | cataract 13 with adult i phenotype | |
DOID:0110243 | cataract 46 juvenile-onset | |
DOID:0110245 | cataract 38 | |
DOID:0110246 | cataract 26 multiple types | |
DOID:0110248 | cataract 30 | |
DOID:0110249 | cataract 11 multiple types | |
DOID:0110250 | cataract 16 multiple types | |
DOID:0110251 | cataract 15 multiple types | |
DOID:0110252 | cataract 37 |
HPO ID | HPO Term |
---|---|
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
HP:0001257 | Spasticity |
HP:0001260 | Dysarthria |
HP:0001263 | Global developmental delay |
HP:0001265 | Hyporeflexia |
HP:0001270 | Motor delay |
HP:0001276 | Hypertonia |
Disease ID | Disease Name |
---|---|
OMIM:617404 |
|
ORPHA:559 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
106580790 | SALSA76764 | ||
115163103 | SALTR98687 | ||
115206054 | SALTR110509 | ||
100708563 | ORENI16445 | ||
115570188 | SPAAU18571 | ||
443677 | Xenbase:XB-GENE-996351 | ||
100127685 | Xenbase:XB-GENE-996350 | ||
101948693 | CHRPI08720 | ||
109317274 | CROPO22363 | ||
103820107 | SERCA16126 |
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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