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Gamma-aminobutyric acid receptor subunit alpha-1

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From Wikipedia, the free encyclopedia

Protein-coding gene in humans

GABRA1

Identifiers

Aliases

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;OMA:GABRA1 - orthologs

Gene location (Human)

Chr.	Chromosome 5 (human)^[1]

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

Gene location (Mouse)

Chr.	Chromosome 11 (mouse)^[2]

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

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

lateral nuclear group of thalamus

endothelial cell

middle temporal gyrus

Brodmann area 23

superior frontal gyrus

primary visual cortex

postcentral gyrus

frontal pole

external globus pallidus

prefrontal cortex

Top expressed in

lobe of cerebellum

cerebellar vermis

deep cerebellar nuclei

globus pallidus

lateral septal nucleus

lateral hypothalamus

ventral tegmental area

medial geniculate nucleus

dorsal tegmental nucleus

medial dorsal nucleus

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 aprotein that in humans is encoded by theGABRA1gene.^[5]

GABA is the majorinhibitory neurotransmitter in themammalian 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 thez-drug class ofnonbenzodiazepine hypnotic agents and is responsible for their hypnotic andhallucinogenic effects.

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000022355 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000010803 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Johnson KJ, Sander T, Hicks AA, van Marle A, Janz D, Mullan MJ, Riley BP, Darlison MG (Dec 1992). "Confirmation of the localization of the human GABAA receptor alpha 1-subunit gene (GABRA1) to distal 5q by linkage analysis".Genomics.14 (3):745–748.doi:10.1016/S0888-7543(05)80178-8.PMID 1330891.
^"Entrez Gene: GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1".

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.Bibcode:1989FEBSL.244..361S.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.doi:10.1016/S0022-3565(24)37581-0.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 theUnited States National Library of Medicine, which is in thepublic 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