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GABRA1
Enables diazepam binding activity. Contributes to GABA receptor activity. Involved in GABAergic synaptic transmission and cellular response to histamine. Located in membrane. Is integral component of plasma membrane. Part of GABA receptor complex. Is active in GABA-ergic synapse. Is integral component of postsynaptic specialization membrane. Biomarker of hepatic encephalopathy. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 19 and idiopathic generalized epilepsy 13. Orthologous to human GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1).
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Transporters
Predicted location
Intracellular, Membrane (different isoforms)
Single cell type specificity
Group enriched (Excitatory neurons, Inhibitory neurons, Bipolar cells)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Not detected
Interaction
Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains (PubMed:29950725, PubMed:30266951). Interacts with UBQLN1 (By similarity). Interacts with TRAK1 (By similarity). Interacts with KIF21B (By similarity). Identified in a complex of 720 kDa composed of LHFPL4, NLGN2, GABRA1, GABRB2, GABRG2 and GABRB3 (By similarity). Interacts with LHFPL4 (PubMed:28978485, PubMed:29742426). Interacts with NLGN2 (By similarity). Interacts with SHISA7; interaction leads regulation of GABA(A) receptor trafficking, channel deactivation kinetics and pharmacology (By similarity).
Molecular function
Chloride channel, Ion channel, Ligand-gated ion channel, Receptor
More Types Infomation
- Human Anti-GABRA1 Recombinant Antibody (clone 1F4) (FAMAB-1351CQ)
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- Species Reactivity: Human
- Type: Human IgG1
- Application: FSEC
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- Derivation: Phage display library
- Species Reactivity: Human
- Type: Rabbit IgG
- Application: WB, IHC-P
- Rabbit Anti-GABRA1 Recombinant Antibody (VS-0223-WK23) (VS-0223-WK23)
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- Derivation: Rabbit
- Species Reactivity: Rat, Mouse
- Type: Rabbit IgG
- Application: WB, ICC, IHC, IHC-P
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For Research Use Only. Not For Clinical Use.