UniProt | Protein Name |
---|---|
Q9NRR6 |
|
GO Term | Evidence Code | PMID |
---|---|---|
biological_process | ||
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | ||
phosphatidylinositol-3-phosphate biosynthetic process | ||
phosphatidylinositol biosynthetic process |
|
|
negative regulation of translation |
GO Term | Evidence Code | PMID |
---|---|---|
Golgi apparatus | ||
Golgi cisterna membrane | ||
Golgi membrane | ||
ruffle |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0070115 | Meckel syndrome 1 | |
DOID:0080212 | polycystic kidney disease 4 | |
DOID:0090053 | episodic kinesigenic dyskinesia 1 | |
DOID:0110123 | Bardet-Biedl syndrome 1 | |
DOID:0110124 | Bardet-Biedl syndrome 2 | |
DOID:0110125 | Bardet-Biedl syndrome 3 | |
DOID:0110126 | Bardet-Biedl syndrome 4 | |
DOID:0110127 | Bardet-Biedl syndrome 5 | |
DOID:0110128 | Bardet-Biedl syndrome 6 | |
DOID:0110129 | Bardet-Biedl syndrome 7 |
HPO ID | HPO Term |
---|---|
HP:0000003 | Multicystic kidney dysplasia |
HP:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000054 | Micropenis |
HP:0000077 | Abnormality of the kidney |
HP:0000083 | Renal insufficiency |
HP:0000107 | Renal cyst |
HP:0000112 | Nephropathy |
HP:0000158 | Macroglossia |
HP:0000175 | Cleft palate |
Disease ID | Disease Name |
---|---|
ORPHA:75858 |
|
ORPHA:475 |
|
OMIM:213300 |
|
ORPHA:220493 |
|
OMIM:610156 |
|
ORPHA:1454 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
118313688 | SCOMX33339 | ||
117031766 | RHIFE22142 | ||
100218296 | TAEGU06803 | ||
101814688 | FICAL06189 | ||
103239625 | CHLSB02884 | ||
104669671 | RHIRO02026 | ||
114588931 | PODMU25694 | ||
107552629 | SINGR74247 | ||
107587653 | SINGR23674 | ||
106845556 | EQUAS29286 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024