GABRA1

Identifiers

GABRA1, ECA4, EIEE19, EJM, EJM5, gamma-aminobutyric acid type A receptor alpha1 subunit, gamma-aminobutyric acid type A receptor subunit alpha1, DEE19

External IDs

OMIM: 137160 MGI: 95613 HomoloGene: 629 GeneCards: GABRA1

Gene location (Human)

Chr.	Chromosome 5 (human)^[1]

Band	5q34	Start	161,847,063 bp^[1]
Band	5q34	End	161,899,981 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 11 (mouse)^[2]

Band	11 A5\|11 24.97 cM	Start	42,021,766 bp^[2]
Band	11 A5\|11 24.97 cM	End	42,073,757 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

endothelial cell

middle temporal gyrus

Brodmann area 23

superior frontal gyrus

postcentral gyrus

frontal pole

external globus pallidus

prefrontal cortex

dorsolateral prefrontal cortex

cerebellar vermis

Top expressed in

cerebellar vermis

globus pallidus

lateral hypothalamus

ventral tegmental area

medial geniculate nucleus

dorsal tegmental nucleus

medial dorsal nucleus

lateral geniculate nucleus

ventromedial nucleus

substantia nigra

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	ion channel activity GABA receptor activity chloride channel activity extracellular ligand-gated ion channel activity GABA-gated chloride ion channel activity GABA-A receptor activity transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential transmembrane signaling receptor activity inhibitory extracellular ligand-gated ion channel activity benzodiazepine receptor activity
Cellular component	integral component of membrane postsynaptic membrane membrane plasma membrane integral component of plasma membrane synapse chloride channel complex cell junction GABA receptor complex cytoplasmic vesicle membrane cytoplasmic vesicle GABA-A receptor complex GABA-ergic synapse integral component of postsynaptic specialization membrane dendrite membrane neuron projection postsynapse
Biological process	gamma-aminobutyric acid signaling pathway synaptic transmission, GABAergic ion transport chloride transport cellular response to histamine chloride transmembrane transport regulation of postsynaptic membrane potential ion transmembrane transport signal transduction chemical synaptic transmission regulation of membrane potential nervous system process inhibitory synapse assembly
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


2554


14394

Ensembl


ENSG00000022355


ENSMUSG00000010803

UniProt


P14867


P62812

RefSeq (mRNA)

NM_001127648 NM_000806 NM_001127643 NM_001127644 NM_001127645
NM_001127646 NM_001127647


NM_010250 NM_001359035

RefSeq (protein)


NP_000797 NP_001121115 NP_001121116 NP_001121117 NP_001121120


NP_034380 NP_001345964

Location (UCSC)

Chr 5: 161.85 – 161.9 Mb

Chr 11: 42.02 – 42.07 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Gamma-aminobutyric acid receptor subunit alpha-1 is a protein that in humans is encoded by the GABRA1 gene.^[5]

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. At least 16 distinct subunits of GABA-A receptors have been identified.^[6]

The GABRA1 receptor is the specific target of the z-drug class of nonbenzodiazepine hypnotic agents and is responsible for their hypnotic and hallucinogenic effects.

References

Schofield PR, Pritchett DB, Sontheimer H, et al. (1989). "Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits". FEBS Lett. 244 (2): 361–364. doi:10.1016/0014-5793(89)80563-0. PMID 2465923. S2CID 84068989.
Garrett KM, Duman RS, Saito N, et al. (1988). "Isolation of a cDNA clone for the alpha subunit of the human GABA-A receptor". Biochem. Biophys. Res. Commun. 156 (2): 1039–1045. doi:10.1016/S0006-291X(88)80949-5. PMID 2847710.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Kang I, Lindquist DG, Kinane TB, et al. (1994). "Isolation and characterization of the promoter of the human GABAA receptor alpha 1 subunit gene". J. Neurochem. 62 (4): 1643–1646. doi:10.1046/j.1471-4159.1994.62041643.x. PMID 8133292. S2CID 84579971.
Tögel M, Mossier B, Fuchs K, Sieghart W (1994). "gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties". J. Biol. Chem. 269 (17): 12993–12998. doi:10.1016/S0021-9258(18)99974-6. PMID 8175718.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Huang RQ, Dillon GH (1998). "Maintenance of recombinant type A gamma-aminobutyric acid receptor function: role of protein tyrosine phosphorylation and calcineurin". J. Pharmacol. Exp. Ther. 286 (1): 243–255. PMID 9655866.
Serretti A, Macciardi F, Cusin C, et al. (1999). "No interaction of GABA(A) alpha-1 subunit and dopamine receptor D4 exon 3 genes in symptomatology of major psychoses". Am. J. Med. Genet. 88 (1): 44–49. doi:10.1002/(SICI)1096-8628(19990205)88:1<44::AID-AJMG8>3.0.CO;2-Y. PMID 10050966.
Bonnert TP, McKernan RM, Farrar S, et al. (1999). "theta, a novel gamma-aminobutyric acid type A receptor subunit". Proc. Natl. Acad. Sci. U.S.A. 96 (17): 9891–9896. Bibcode:1999PNAS...96.9891B. doi:10.1073/pnas.96.17.9891. PMC 22306. PMID 10449790.
Serretti A, Lilli R, Lorenzi C, et al. (1999). "Dopamine receptor D2 and D4 genes, GABA(A) alpha-1 subunit genes and response to lithium prophylaxis in mood disorders". Psychiatry Research. 87 (1): 7–19. doi:10.1016/S0165-1781(99)00056-6. PMID 10512150. S2CID 26980087.
Cossette P, Liu L, Brisebois K, et al. (2002). "Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy". Nat. Genet. 31 (2): 184–189. doi:10.1038/ng885. PMID 11992121. S2CID 11974933.
Kumar S, Sieghart W, Morrow AL (2002). "Association of protein kinase C with GABA(A) receptors containing alpha1 and alpha4 subunits in the cerebral cortex: selective effects of chronic ethanol consumption". J. Neurochem. 82 (1): 110–117. doi:10.1046/j.1471-4159.2002.00943.x. PMID 12091471. S2CID 82745932.
Trudell J (2002). "Unique assignment of inter-subunit association in GABA(A) alpha 1 beta 3 gamma 2 receptors determined by molecular modeling". Biochim. Biophys. Acta. 1565 (1): 91–96. doi:10.1016/S0005-2736(02)00512-6. PMID 12225856.
Sarto I, Wabnegger L, Dögl E, Sieghart W (2002). "Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly". Neuropharmacology. 43 (4): 482–491. doi:10.1016/S0028-3908(02)00160-0. PMID 12367595. S2CID 140209788.
Jenkins A, Andreasen A, Trudell JR, Harrison NL (2002). "Tryptophan scanning mutagenesis in TM4 of the GABA(A) receptor alpha1 subunit: implications for modulation by inhaled anesthetics and ion channel structure". Neuropharmacology. 43 (4): 669–678. doi:10.1016/S0028-3908(02)00175-2. PMID 12367612. S2CID 41156918.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Kash TL, Jenkins A, Kelley JC, et al. (2003). "Coupling of agonist binding to channel gating in the GABA(A) receptor". Nature. 421 (6920): 272–275. Bibcode:2003Natur.421..272K. doi:10.1038/nature01280. PMID 12529644. S2CID 4429883.
Lin SK, Chen CK, Ball D, et al. (2004). "Gender-specific contribution of the GABA(A) subunit genes on 5q33 in methamphetamine use disorder". Pharmacogenomics J. 3 (6): 349–355. doi:10.1038/sj.tpj.6500203. PMID 14569258. S2CID 177019.
Mercik K, Pytel M, Mozrzymas JW (2004). "Recombinant alpha 1 beta 2 gamma 2 GABA(A) receptors expressed in HEK293 and in QT6 cells show different kinetics". Neurosci. Lett. 352 (3): 195–198. doi:10.1016/j.neulet.2003.08.060. PMID 14625018. S2CID 53298392.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Ion channel, cell surface receptor: ligand-gated ion channels

Cys-loop receptors

5-HT/serotonin	5-HT₃ A B C D E
GABA	GABA_A α₁ α₂ α₃ α₄ α₅ α₆ β₁ β₂ β₃ γ₁ γ₂ γ₃ δ ε π θ GABA_A-ρ ρ₁ ρ₂ ρ₃
Glycine	α₁ α₂ α₃ α₄ β
Nicotinic acetylcholine	monomers: α1 α2 α3 α4 α5 α6 α7 α9 α10 β1 β2 β3 β4 δ ε pentamers: (α3)₂(β4)₃ (α4)₂(β2)₃ (α7)₅ (α1)₂(β4)₃ - Ganglion type (α1)₂β1δε - Muscle type
Zinc	Zinc-activated

Ionotropic glutamates

Ligand-gated only	AMPA (1 2 3 4) Kainate 1 2 3 4 5
Voltage- and ligand-gated	NMDA 1 2A 2B 2C 2D 3A 3B L1A L1B
‘Orphan’	GluD δ₁ δ₂