GNAT1 (G protein subunit alpha transducin 1)

2006-10-01  

Identity

HGNC
GNAT1
LOCATION
3p21.31
LOCUSID
2779
ALIAS
CSNB1G,CSNBAD3,GBT1,GNATR

Other Information

Locus ID:

NCBI: 2779
MIM: 139330
HGNC: 4393
Ensembl: ENSG00000114349

Variants:

dbSNP: 2779
ClinVar: 2779
TCGA: ENSG00000114349
COSMIC: GNAT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114349ENST00000232461P11488
ENSG00000114349ENST00000232461A0A024R2Z1
ENSG00000114349ENST00000433068P11488
ENSG00000114349ENST00000433068A0A024R2Z1
ENSG00000114349ENST00000440836C9JCV8

Expression (GTEx)

0
1
2
3
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
PhototransductionKEGGko04744
PhototransductionKEGGhsa04744
Metabolism of proteinsREACTOMER-HSA-392499
Protein foldingREACTOMER-HSA-391251
Chaperonin-mediated protein foldingREACTOMER-HSA-390466
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (i) signalling eventsREACTOMER-HSA-418594
Opioid SignallingREACTOMER-HSA-111885
G-protein activationREACTOMER-HSA-202040
G-protein mediated eventsREACTOMER-HSA-112040
PLC beta mediated eventsREACTOMER-HSA-112043
Visual phototransductionREACTOMER-HSA-2187338
The phototransduction cascadeREACTOMER-HSA-2514856
Activation of the phototransduction cascadeREACTOMER-HSA-2485179
Inactivation, recovery and regulation of the phototransduction cascadeREACTOMER-HSA-2514859
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta foldingREACTOMER-HSA-6814122

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
retina
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
221905962012GNAT1 associated with autosomal recessive congenital stationary night blindness.24
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
264724072016A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.10
232924522013Screening of candidate tumor-suppressor genes in 3p21.3 and investigation of the methylation of gene promoters in oral squamous cell carcinoma.7
172223602007[Expression, loss of heterozygosity, and methylation of GNAT1 gene in nasopharyngeal carcinoma].2
300513032018Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association.0
315835012020Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.0
316967582019Novel homozygous in-frame deletion of <i>GNAT1</i> gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.0

Citation

Dessen P

GNAT1 (G protein subunit alpha transducin 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43281/gnat1