GNGT1 Gene Summary [Human]
This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | GNGT1 |
| Official Name | G protein subunit gamma transducin 1 [Source:HGNC Symbol;Acc:HGNC:4411] |
| Ensembl ID | ENSG00000127928 |
| Bio databases IDs | |
| Aliases | G protein subunit gamma transducin 1 |
| Synonyms | GNG1, G protein subunit gamma transducin 1, G protein subunit γ transducin 1, G protein γ 1, guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1, guanine nucleotide binding protein (G protein), γ transducing activity polypeptide 1, G(y)1, HG3G1, LOC683332, Rod transducin gamma subunit, Rod transducin γ subunit |
| Species | Human, Homo sapiens |
| Orthologies |
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 in human GNGT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GGL
- GTPase
- enzyme
- protein binding
- GGL domain
Pathways
Biological processes and signaling networks where the GNGT1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Huntington disease
- peripheral neuropathy
- post-traumatic stress disorder
- spinocerebellar ataxia type 7
- small cell lung cancer
- idiopathic scoliosis
- coronary artery disease
- colon adenocarcinoma
- colon epithelial cancer
role in cell
- cell death
- apoptosis
- degeneration
- development
- electrophysiology
- response by
- processing in
- overload in
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
- Nucleus
- photoreceptor outer segments
- photoreceptor inner segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GNGT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- G-protein coupled receptor signaling pathway
- cardiac muscle cell apoptotic process
- signal transduction
- eye photoreceptor cell development
- protein localization
- cellular response to hypoxia
- phototransduction
Cellular Component
Where in the cell the gene product is active
- heterotrimeric G-protein complex
- photoreceptor inner segment
Molecular Function
What the gene product does at the molecular level
- protein binding
- G-protein beta-subunit binding
- GTPase activity