GNAT1
entrez
2779
canonical
uniprot
P11488
canonical
ensembl
ENSG00000114349
resolver
ensp
ENSP00000232461
resolver
ensp
ENSP00000387555
resolver
enst
ENST00000232461
resolver
enst
ENST00000433068
resolver
genesymbol
GNAT1
resolver
genesymbol_syn
GNATR
resolver
hgnc
HGNC:4393
resolver
uniprot
Q4VBN2
resolver
uniprot_entry
GNAT1_HUMAN
resolver
uniprot_sec
Q4VBN2
resolver
amino_acid_sequence
MGAGASAEEKHSRELEKKLKEDAEKDARTVKLLLLGAGESGKSTIVKQMKIIHQDGYSLEECLEFIAIIYGNTLQSILAIVRAMTTLNIQYGDSARQDDARKLMHMADTIEEGTMPKEMSDIIQRLWKDSGIQACFERASEYQLNDSAGYYLSDLERLVTPGYVPTEQDVLRSRVKTTGIIETQFSFKDLNFRMFDVGGQRSERKKWIHCFEGVTCIIFIAALSAYDMVLVEDDEVNRMHESLHLFNSICNHRYFATTSIVLFLNKKDVFFEKIKKAHLSICFPDYDGPNTYEDAGNYIKVQFLELNMRRDVKEIYSHMTCATDTQNVKFVFDAVTDIIIKENLKDCGLF
uniprot
proteins
disease_involvement
DISEASE: Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3) [MIM:610444]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO:0000269|PubMed:17584859, ECO:0000269|PubMed:8673138}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Night blindness, congenital stationary, 1G (CSNB1G) [MIM:616389]: An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. {ECO:0000269|PubMed:22190596}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.-
uniprot
proteins
function
FUNCTION: Alpha subunit of the heterotrimeric guanine nucleotide-binding protein (G protein) that transduces signals from the G protein-coupled photoreceptor rhodopsin (RHO). Essential for normal RHO-mediated light perception in retinal rod photoreceptors (PubMed:22190596). Functions as a GTPase, cycling between an active GTP-bound state and an inactive GDP-bound state. Under dim light conditions, photoactivated RHO promotes GDP release and GTP binding. In its active state, GNAT1 stimulates downstream effectors, including rod cGMP-phosphodiesterase (PDE6) complex, to mediate the phototransduction cascade (By similarity). Activation of the PDE6 complex occurs through binding and repositioning of the inhibitory PDE6 gamma subunits (PDE6G), thereby promoting catalytic activity (By similarity). {ECO:0000250|UniProtKB:P04695, ECO:0000269|PubMed:22190596}.
uniprot
proteins
mass_dalton
40041
uniprot
proteins
mutagenesis
MUTAGEN 2; /note="G->A: Abolishes myristoylation, interaction with UNC119 and localization."; /evidence="ECO:0000269|PubMed:21642972
uniprot
proteins
protein_family
G(i/o/t/z) subfamily
uniprot
proteins
protein_family
G-alpha family
uniprot
proteins
pubmed
11032890
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1614872
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17584859
uniprot
proteins
pubmed
21642972
uniprot
proteins
pubmed
22190596
uniprot
proteins
pubmed
2534964
uniprot
proteins
pubmed
2748346
uniprot
proteins
pubmed
8673138
uniprot
proteins
sequence_length
350
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Photoreceptor outer segment membrane {ECO:0000250|UniProtKB:P04695}; Peripheral membrane protein {ECO:0000250|UniProtKB:P04695}. Membrane {ECO:0000250|UniProtKB:P04695}; Peripheral membrane protein {ECO:0000250|UniProtKB:P04695}. Photoreceptor inner segment {ECO:0000250|UniProtKB:P20612}. Note=Localizes mainly in the outer segment in the dark-adapted state, whereas is translocated to the inner part of the photoreceptors in the light-adapted state. During dark-adapted conditions, in the presence of UNC119 mislocalizes from the outer segment to the inner part of rod photoreceptors which leads to decreased photoreceptor damage caused by light. {ECO:0000250|UniProtKB:P20612}.
uniprot
proteins