This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq].
Function:
Receptor for GABA. The activity of this receptor is mediated by G-proteins that inhibit adenylyl cyclase activity, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipids hydrolysis. Plays a critical role in the fine-tuning of inhibitory synaptic transmission. Pre-synaptic GABA-B-R inhibit neurotransmitter release by down-regulating high-voltage activated calcium channels, whereas postsynaptic GABA-B-R decrease neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials. Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception. Activated by (-)-baclofen, cgp27492 and blocked by phaclofen.
Subcellular Location:
Secreted and Cell membrane.
Tissue Specificity:
Highly expressed in brain and weakly in heart, small intestine and uterus. Isoform 1A is mostly expressed in granular cell and molecular layer. Isoform 1B is mostly expressed in Purkinje cells. Isoform 1E is predominantly expressed in peripheral tissues as kidney, lung, trachea, colon, small intestine, stomach, bone marrow, thymus and mammary gland.
Similarity:
Belongs to the G-protein coupled receptor 3 family. GABA-B receptor subfamily.
Contains 2 Sushi (CCP/SCR) domains.
SWISS:
P14867
Gene ID:
2554
Database links:
Entrez Gene: 2554 Human
Entrez Gene: 14394 Mouse
Entrez Gene: 29705 Rat
Omim: 137160 Human
SwissProt: P19150 Chicken
SwissProt: P08219 Cow
SwissProt: P14867 Human
SwissProt: P62812 Mouse
SwissProt: P62813 Rat
Unigene: 175934 Human
Unigene: 439668 Mouse
Unigene: 28463 Rat
GABA是中枢神经系统主要的抑制性神经递质，而GABA-ARα1是GABA的受体之一,在脑内分布最普遍,α1亚单位与其功能密切相关。通过位于脑内的GABA受体发挥抑制性作用GABA及GABA-ARα1在癫痫、颅脑损伤、神经毒剂中毒等疾病、损伤和中毒模型中的表达、结合都有改变。
| Picture |
Sample: Brain (Mouse) Lysate at 40 ug
Primary: Anti-GABA A Receptor (SL1232R) at 1/300 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/10000 dilution
Predicted band size: 52 kD
Observed band size: 52 kD
Sample:
Cerebrum (Mouse) Lysate at 40 ug
Cerebellum (Rat) Lysate at 40 ug
Primary: Anti-GABRA1/GABA A Receptor alpha 1 (SL1232R) at 1/1000 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 52 kD
Observed band size: 52 kD
Paraformaldehyde-fixed, paraffin embedded (rat brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (GABRA1 GABA A Receptor alpha 1) Polyclonal Antibody, Unconjugated (SL1232R) at 1:200 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
Paraformaldehyde-fixed, paraffin embedded (mouse brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (GABRA1 GABA A Receptor alpha 1) Polyclonal Antibody, Unconjugated (SL1232R) at 1:200 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
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