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
|
https://www.w3.org/2000/01/rdf-schema#label |
NPRL3
|
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 |
7
|