Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
C16orf35
Nitrogen permease regulator 3-like protein |
| gptkbp:associatedWith |
epilepsy
focal cortical dysplasia |
| gptkbp:encodes |
Nitrogen permease regulator-like 3 protein
|
| gptkbp:Entrez_Gene_ID |
ENSG00000103241
55824 |
| gptkbp:expressedIn |
various tissues including brain and muscle
|
| gptkbp:fullName |
NPR3-like, GATOR1 complex subunit
|
| gptkbp:function |
negative regulator of mTORC1 activity
|
| gptkbp:HGNC_ID |
gptkb:HGNC:23312
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_16
16p13.3 |
| gptkbp:mutationAssociatedWith |
familial focal epilepsy
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Nprl3
|
| gptkbp:partOf |
GATOR1 complex
|
| gptkbp:regulates |
mTORC1 signaling pathway
|
| gptkbp:UniProtID |
Q8WTW4
|
| gptkbp:bfsParent |
gptkb:chromosome_16p13.3
gptkb:16p13.13 |
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
NPRL3
|