Homo sapiens Gene: GNAT1
Summary
InnateDB Gene IDBG-36015.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GNAT1
Gene Name guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
Synonyms CSNBAD3; GBT1; GNATR;
Species Homo sapiens
Ensembl Gene ENSG00000114349
Encoded Proteins
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:50191612-50196516
Strand Forward strand
Band p21.31
Transcripts
ENST00000232461 ENSP00000232461
ENST00000433068 ENSP00000387555
ENST00000440836 ENSP00000403537
ENST00000467787
ENST00000481246
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000035 acyl binding
GO:0001664 G-protein coupled receptor binding
GO:0003924 GTPase activity
GO:0004871 signal transducer activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0019001 guanyl nucleotide binding
GO:0019003 GDP binding
GO:0019901 protein kinase binding
GO:0031683 G-protein beta/gamma-subunit complex binding
GO:0046872 metal ion binding
Biological Process
GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste
GO:0006184 GTP catabolic process
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007601 visual perception
GO:0007602 phototransduction
GO:0007603 phototransduction, visible light
GO:0008283 cell proliferation
GO:0009416 response to light stimulus
GO:0009642 response to light intensity
GO:0016056 rhodopsin mediated signaling pathway
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0042462 eye photoreceptor cell development
GO:0050908 detection of light stimulus involved in visual perception
GO:0050917 sensory perception of umami taste
GO:0051343 positive regulation of cyclic-nucleotide phosphodiesterase activity
GO:0051344 negative regulation of cyclic-nucleotide phosphodiesterase activity
GO:0060041 retina development in camera-type eye
GO:0071257 cellular response to electrical stimulus
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005834 heterotrimeric G-protein complex
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0032391 photoreceptor connecting cilium
GO:0042622 photoreceptor outer segment membrane
GO:0043025 neuronal cell body
GO:0097381 photoreceptor disc membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Activation of the phototransduction cascade pathway
Signaling by GPCR pathway
PLC beta mediated events pathway
Opioid Signalling pathway
Signal Transduction pathway
GPCR downstream signaling pathway
G alpha (i) signalling events pathway
G-protein activation pathway
G-protein mediated events pathway
Diseases associated with visual transduction pathway
Visual phototransduction pathway
The phototransduction cascade pathway
Inactivation, recovery and regulation of the phototransduction cascade pathway
Disease pathway
KEGG
Phototransduction pathway
INOH
PID BIOCARTA
Visual signal transduction [Biocarta view]
PID NCI
Visual signal transduction: Rods
Cross-References
SwissProt
TrEMBL C9JCV8
UniProt Splice Variant
Entrez Gene 2779
UniGene Hs.517978
RefSeq NM_144499 NM_000172
HUGO HGNC:4393
OMIM 139330
CCDS CCDS2812
HPRD 08850
IMGT
EMBL AC000063 AC002077
GenPept
RNA Seq Atlas 2779