GABBR1 Gene Summary [Human]
This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]
Details
| Type | Protein Coding |
| Official Symbol | GABBR1 |
| Official Name | gamma-aminobutyric acid type B receptor subunit 1 [Source:HGNC Symbol;Acc:HGNC:4070] |
| Ensembl ID | ENSG00000204681 |
| Bio databases IDs | |
| Aliases | gamma-aminobutyric acid type B receptor subunit 1, GABA-B receptor |
| Synonyms | bM573K1.1, GABA, GABA B1, GABA B1 A, GABABR1, GABBR1-3, GABR1, gamma-aminobutyric acid type B receptor subunit 1, GB1, GPRC3A, NEDLC, γ-aminobutyric acid type B receptor subunit 1 |
| 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 GABBR1 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 coupled receptor
- GABA-B receptor
- Periplasmic binding protein
- Receptor family ligand binding region
- intracellular loop
- coiled-coil domain
- 7 transmembrane sweet-taste receptor of 3 GCPR
- protein binding
- seven-transmembrane G protein-coupled receptor superfamily
- CCP
- neurotransmitter receptor
- retention sequence
- Type 1 periplasmic binding fold superfamily
- Sushi repeat (SCR repeat)
- cytosolic tail domain
- protein heterodimerization
- SUSHI repeat
Pathways
Biological processes and signaling networks where the GABBR1 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
- Alzheimer disease
- psoriasis
- neoplasia
- liver cancer
- epithelial cancer
- multiple sclerosis
- chronic obstructive pulmonary disease
- gynecological disorder
- hyperactive behavior
- alcoholism
role in cell
- expression in
- apoptosis
- activation in
- proliferation
- migration
- accumulation in
- survival
- number
- differentiation
- abnormal morphology
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
- nuclear fraction
- postsynaptic density (PSD) fractions
- Golgi-enriched fraction
- membrane fraction
- glutaminergic synapse
- Cytoplasm
- presynaptic regions
- cell surface
- Extracellular Space
- intracellular space
- perinuclear region
- intracellular membranes
- cellular membrane
- Endoplasmic Reticulum
- granules
- endoplasmic reticulum membrane
- presynaptic membrane
- postsynaptic membrane
- synaptic membrane
- granular components
- mitochondrial membrane
- dendritic spines
- synaptic vesicles
- axonal membrane
- neurites
- synaptosomes
- synapse
- perinuclear vesicles
- membrane processes
- perikaryon
- dendrites
- dendritic shafts
- cis Golgi cisternae
- endoplasmic reticulum-rich vesicle fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GABBR1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway
- regulation of postsynaptic membrane potential
- positive regulation of growth hormone secretion
- negative regulation of cell proliferation
- negative regulation of gamma-aminobutyric acid secretion
- negative regulation of synaptic transmission
- response to nicotine
- gamma-aminobutyric acid signaling pathway
- response to ethanol
- osteoblast differentiation
- synaptic transmission, GABAergic
- negative regulation of epinephrine secretion
- negative regulation of dopamine secretion
- positive regulation of glutamate secretion
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- G-protein coupled receptor heterodimeric complex
- synaptic vesicle
- neuronal cell body
- plasma membrane
- endoplasmic reticulum membrane
- extracellular space
- mitochondrial membrane
- postsynaptic membrane
- dendritic shaft
- dendritic spine
- axolemma
Molecular Function
What the gene product does at the molecular level
- protein binding
- G-protein coupled GABA receptor activity
- protein heterodimerization activity