GNAT1

GNAT1
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	3RBQ
Dynodwyr
Cyfenwau	GNAT1, CSNBAD3, GBT1, GNATR, CSNB1G, G protein subunit alpha transducin 1, HG1F
Dynodwyr allanol	OMIM: 139330 HomoloGene: 20084 GeneCards: GNAT1
Patrwm RNA pattern
	; ;
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• nucleotide binding; • GDP binding; • metal ion binding; • acyl binding; • guanyl nucleotide binding; • G protein-coupled receptor binding; • protein kinase binding; • signal transducer activity; • GTP binding; • G-protein beta/gamma-subunit complex binding; • GO:0006184 GTPase activity;
Cydrannau o'r gell	• cytoplasm; • cytosol; • Cellbilen; • photoreceptor connecting cilium; • soma; • apical plasma membrane; • photoreceptor disc membrane; • photoreceptor outer segment membrane; • photoreceptor outer segment; • heterotrimeric G-protein complex; • photoreceptor inner segment; • bilen; • cell projection;
Prosesau biolegol	• response to light stimulus; • response to stimulus; • regulation of rhodopsin mediated signaling pathway; • detection of chemical stimulus involved in sensory perception of bitter taste; • detection of light stimulus involved in visual perception; • retina development in camera-type eye; • eye photoreceptor cell development; • response to light intensity; • negative regulation of cyclic-nucleotide phosphodiesterase activity; • cell population proliferation; • positive regulation of cyclic-nucleotide phosphodiesterase activity; • phototransduction; • cellular response to electrical stimulus; • GO:0072468 signal transduction; • protein folding; • adenylate cyclase-modulating G protein-coupled receptor signaling pathway; • phototransduction, visible light; • rhodopsin mediated signaling pathway; • sensory perception of umami taste; • golwg; • G protein-coupled receptor signaling pathway;
	Sources:Amigo / QuickGO
Orthologau
	2779
	n/a
	ENSG00000114349
	n/a
	P11488
	n/a
	NM_000172; NM_144499
	n/a
	NP_000163; NP_653082
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn GNAT1 yw GNAT1 a elwir hefyd yn G protein subunit alpha transducin 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 3, band 3p21.31.^[2]

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn GNAT1.

GBT1
GNATR
CSNB1G
CSNBAD3

Llyfryddiaeth

"A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration. ". Br J Ophthalmol. 2016. PMID 26472407.
"GNAT1 associated with autosomal recessive congenital stationary night blindness. ". Invest Ophthalmol Vis Sci. 2012. PMID 22190596.
"[Expression, loss of heterozygosity, and methylation of GNAT1 gene in nasopharyngeal carcinoma]. ". Ai Zheng. 2007. PMID 17222360.
"Regional mapping of a human rod alpha-transducin (GNAT1) gene to chromosome 3p22. ". Genomics. 1993. PMID 8307584.
"Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye.". Nucleic Acids Res. 1989. PMID 2748346.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] GNAT1 - Cronfa NCBI

[1]

[2]