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:0110140 | Bardet-Biedl syndrome 18 | |
DOID:0110141 | Bardet-Biedl syndrome 19 | |
DOID:0110213 | isolated cleft palate | |
DOID:0110594 | primary ciliary dyskinesia 1 | |
DOID:0110861 | autosomal recessive polycystic kidney disease | |
DOID:0110980 | Joubert syndrome 1 | |
DOID:10426 | Klippel-Feil syndrome | |
DOID:10487 | Hirschsprung's disease | |
DOID:1056 | oculocerebrorenal syndrome | |
DOID:1059 | intellectual disability |
HPO ID | HPO Term |
---|---|
HP:0001257 | Spasticity |
HP:0001263 | Global developmental delay |
HP:0001274 | Agenesis of corpus callosum |
HP:0001288 | Gait disturbance |
HP:0001290 | Generalized hypotonia |
HP:0001320 | Cerebellar vermis hypoplasia |
HP:0001337 | Tremor |
HP:0001347 | Hyperreflexia |
HP:0001357 | Plagiocephaly |
HP:0001394 | Cirrhosis |
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 |
---|---|---|---|
39404 | FB:FBgn0036273 | ||
102357566 | LATCH19413 | ||
606579 | ZFIN:ZDB-GENE-050809-23 | DANRE36968 | |
108255662 | ICTPU17312 | ||
113572910 | ELEEL12580 | ||
106580015 | SALSA72883 | ||
106585421 | SALSA89541 | ||
115164728 | SALTR60491 | ||
115199907 | SALTR21802 | ||
115548478 | GADMO56978 |
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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