NPRL3 (NPR3 like, GATOR1 complex subunit)

2014-11-01  

Identity

HGNC
NPRL3
LOCATION
16p13.3
LOCUSID
8131
ALIAS
C16orf35,CGTHBA,FFEVF3,HS-40,MARE,NPR3,RMD11
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8131
MIM: 600928
HGNC: 14124
Ensembl: ENSG00000103148

Variants:

dbSNP: 8131
ClinVar: 8131
TCGA: ENSG00000103148
COSMIC: NPRL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103148ENST00000399953B7Z6Q0
ENSG00000103148ENST00000419636B1B1F5
ENSG00000103148ENST00000422814F8WDA5
ENSG00000103148ENST00000456528F8WEK7
ENSG00000103148ENST00000457916F8WBJ1
ENSG00000103148ENST00000468260A0A087WTD0
ENSG00000103148ENST00000483663F8WCB2
ENSG00000103148ENST00000611875Q12980
ENSG00000103148ENST00000620134Q12980
ENSG00000103148ENST00000621703A0A087WTE2
ENSG00000103148ENST00000622194A0A087WTP7

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
mTOR signaling pathwayKEGGko04150
mTOR signaling pathwayKEGGhsa04150

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
215555182011The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.60
265058882016Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.27
262850512016Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.26
271730162016Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.21
225387052012Nprl3 is required for normal development of the cardiovascular system.16
300937112019The landscape of epilepsy-related GATOR1 variants.11
196660062009The evolutionary conserved gene C16orf35 encodes a nucleo-cytoplasmic protein that interacts with p73.4
311114642019Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci.0

Citation

Dessen P

NPRL3 (NPR3 like, GATOR1 complex subunit)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70949/nprl3