GNAT1
GNAT1 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]
Details
| Type | Protein Coding |
| Official Symbol | GNAT1 |
| Official Name | G protein subunit alpha transducin 1 [Source:HGNC Symbol;Acc:HGNC:4393] |
| Ensembl ID | ENSG00000114349 |
| Bio databases IDs | |
| Aliases | G protein subunit alpha transducin 1 |
| Synonyms | CSNB1G,CSNBAD3,G alpha t1,GBT1,GNATR,G protein subunit alpha transducin 1,G protein subunit α transducin 1,G α t1,HG1F,Ird1,Ird2,irdc,irdr,Rod Transducin,Rod Transducin alpha,Rod Transducin α,Tralpha,transducin |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G protein alpha subunit
- palmitoylation site
- protein kinase binding
- alpha helix
- GTPase
- enzyme
- protein binding
- taste receptor binding domain
- GTP binding
- acyl binding
- binding protein
- GDP binding
- G-protein alpha subunit
- P-loop containing Nucleoside Triphosphate Hydrolases
Pathways
Biological processes and signaling networks where the GNAT1 gene plays a role, providing insight into its function and relevance in health or disease.
- Apelin Endothelial Signaling Pathway
- Apelin Muscle Signaling Pathway
- Cardiac β-adrenergic Signaling
- CCR3 Signaling in Eosinophils
- CXCR4 Signaling
- Ephrin B Signaling
- Ephrin Receptor Signaling
- fMLP Signaling in Neutrophils
- G Beta Gamma Signaling
- G Protein Signaling Mediated by Tubby
- G-Protein Coupled Receptor Signaling
- GABA Receptor Signaling
- Gαi Signaling
- Gαq Signaling
- IL-1 Signaling
- IL-8 Signaling
- Phototransduction Pathway
- Relaxin Signaling
- RhoGDI Signaling
- Sperm Motility
- TEC Kinase Signaling
- Thrombin Signaling
- α-Adrenergic Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
- ARL5B
- HTT
- ADIPOR2
- PDE6G
- RGS9
- DNAJC6
- RPL4
- GDP
- CBL
- BCAR1
disease
- spinocerebellar ataxia type 7
- congenital stationary night blindness type 1G
- cancer
- retinal dystrophy
- autosomal dominant congenital stationary night blindness 3
- congenital stationary night blindness type 1C
- cannabis dependence
- retinitis pigmentosa
regulated by
- TNF
- EGF
- phytohemagglutinin
- GNAT1
- 11-cis-retinal
- AHI1
- HBEGF
- Scd1
- RABGEF1
- CRX
regulates
- Ca2+
- IKBKB
- GDP
- NFKB1
- PDE
- RHO
- TWIST1
- guanosine triphosphate
- GNGT1
- GNB1
role in cell
- differentiation
- quantity
- proliferation
- apoptosis
- response by
- development
- function
- degeneration
- elongation
- desensitization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cellular membrane
- cytosol
- connecting cilia
- apical membrane
- photoreceptor outer segments
- photoreceptor inner segments
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the GNAT1 gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- cell proliferation
- retinal rod cell differentiation
- detection of light stimulus involved in visual perception
- dopamine secretion
- sensory perception of umami taste
- signal transduction
- eye photoreceptor cell development
- detection of chemical stimulus involved in sensory perception of bitter taste
- adenylate cyclase-modulating G-protein coupled receptor signaling pathway
- response to organic cyclic compound
- visual perception
- response to light stimulus
- visual behavior
- regulation of rhodopsin mediated signaling pathway
- phototransduction, visible light
- negative regulation of cyclic-nucleotide phosphodiesterase activity
- retinal cone cell differentiation
- cellular response to electrical stimulus
- rhodopsin mediated signaling pathway
CELLULAR COMPONENT
Where in the cell the gene product is active
- photoreceptor connecting cilium
- heterotrimeric G-protein complex
- cytoplasm
- membrane
- cytosol
- neuronal cell body
- photoreceptor inner segment
- apical plasma membrane
- photoreceptor outer segment membrane
- plasma membrane
- photoreceptor outer segment
MOLECULAR FUNCTION
What the gene product does at the molecular level
- GTP binding
- protein kinase binding
- G-protein coupled receptor binding
- metal ion binding
- GTPase activity
- GDP binding
- G-protein beta/gamma-subunit complex binding
- acyl binding