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GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_000806 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA. Full Length $1531.60
ORF Sequence $397.59
NM_001127644 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 3, mRNA. Full Length $1544.20
ORF Sequence $397.59
NM_001127645 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 4, mRNA. Full Length $1400.00
ORF Sequence $397.59
NM_001127647 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 6, mRNA. Full Length $1478.05
ORF Sequence $397.59
NM_001127648 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 7, mRNA. Full Length $1407.70
ORF Sequence $397.59
NM_001127643 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 2, mRNA. Full Length $1492.05
ORF Sequence $397.59
NM_001127646 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 5, mRNA. Full Length $1423.45
ORF Sequence $397.59


Gene Symbol GABRA1
Entrez Gene ID 2554
Full Name gamma-aminobutyric acid (GABA) A receptor, alpha 1
Synonyms ECA4, EJM, EJM5
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

5

5q34
Summary 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].
Disorder

MIM: 137160

{Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3);
mRNA NM_000806, 189083722
Protein NP_000797, 38327554
Product gamma-aminobutyric acid receptor subunit alpha-1 precursor
RefSeq Status REVIEWED
mRNA NM_001127644, 189083725
Protein NP_001121116, 189083726
Product gamma-aminobutyric acid receptor subunit alpha-1 precursor
RefSeq Status REVIEWED
mRNA NM_001127645, 189083727
Protein NP_001121117, 189083728
Product gamma-aminobutyric acid receptor subunit alpha-1 precursor
RefSeq Status REVIEWED
mRNA NM_001127647, 189083731
Protein NP_001121119, 189083732
Product gamma-aminobutyric acid receptor subunit alpha-1 precursor
RefSeq Status REVIEWED
mRNA NM_001127648, 189083733
Protein NP_001121120, 189083734
Product gamma-aminobutyric acid receptor subunit alpha-1 precursor
RefSeq Status REVIEWED
mRNA NM_001127643, 189083723
Protein NP_001121115, 189083724
Product gamma-aminobutyric acid receptor subunit alpha-1 precursor
RefSeq Status REVIEWED
mRNA NM_001127646, 189083729
Protein NP_001121118, 189083730
Product gamma-aminobutyric acid receptor subunit alpha-1 precursor
RefSeq Status REVIEWED
KEGG
hsa04080Neuroactive ligand-receptor interaction
Reactome
REACT_13477Transmission across Chemical Synapses
REACT_25387Ligand-gated ion channel transport
REACT_25199GABA receptor activation
REACT_25300Ion channel transport
REACT_24987GABA A receptor activation
REACT_15370Neuroransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell
REACT_13685Synaptic Transmission
REACT_15518Transmembrane transport of small molecules
Homo sapiens (human)GABRA1NP_001121120.1
Pan troglodytes (chimpanzee)GABRA1XP_518079.1
Canis lupus familiaris (dog)GABRA1XP_546261.2
Bos taurus (cattle)GABRA1NP_776965.1
Bos taurus (cattle)GABRA1XP_001249341.1
Mus musculus (house mouse)Gabra1NP_034380.1
Rattus norvegicus (Norway rat)Gabra1NP_899155.1
Gallus gallus (chicken)GABRA1NP_989649.1
Danio rerio (zebrafish)gabra1NP_001070794.1
Process
IDNameEvidence
GO:0006810transportTAS
GO:0007214gamma-aminobutyric acid signaling pathwayIEA
GO:0007268synaptic transmissionTAS
GO:0034220ion transmembrane transportTAS
GO:0055085transmembrane transportTAS
Component
IDNameEvidence
GO:0005886plasma membraneTAS
GO:0005887integral to plasma membraneIEA
GO:0030054cell junctionIEA
GO:0034707chloride channel complexIEA
GO:0045202synapseIEA
GO:0045211postsynaptic membraneIEA
Function
IDNameEvidence
GO:0004872receptor activityIEA
GO:0004890GABA-A receptor activityIEA
GO:0005216ion channel activityIEA
GO:0005230extracellular ligand-gated ion channel activityIEA
GO:0005254chloride channel activityIEA
GO:0008144drug bindingIEA
GeneCards GABRA1
UniProt P14867, A8K177
MIM 137160
Ensembl ENSG00000022355
HGNC 4075
HPRD 00662

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