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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000806 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001127643 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001127644 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 3, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001127645 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 4, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001127648 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 7, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

*Business Day

Related Services

Gene Symbol GABRA1
Entrez Gene ID 2554
Full Name gamma-aminobutyric acid (GABA) A receptor, alpha 1
Synonyms ECA4, EIEE19, EJM, EJM5
General protein information
Preferred Names
gamma-aminobutyric acid receptor subunit alpha-1
Names
gamma-aminobutyric acid receptor subunit alpha-1
GABA(A) receptor, alpha 1
GABA(A) receptor subunit alpha-1
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, Jul 2008].
Disorder

MIM: 137160

{Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3);

mRNA Protein Product Sequence Price Select
NM_000806, 189083722 NP_000797, 38327554 gamma-aminobutyric acid receptor subunit alpha-1 precursor ORF Sequence $360.00
NM_001127643, 189083723 NP_001121115, 189083724 gamma-aminobutyric acid receptor subunit alpha-1 precursor ORF Sequence $360.00
NM_001127644, 189083725 NP_001121116, 189083726 gamma-aminobutyric acid receptor subunit alpha-1 precursor ORF Sequence $360.00
NM_001127645, 189083727 NP_001121117, 189083728 gamma-aminobutyric acid receptor subunit alpha-1 precursor ORF Sequence $360.00
NM_001127648, 189083733 NP_001121120, 189083734 gamma-aminobutyric acid receptor subunit alpha-1 precursor ORF Sequence $360.00
KEGG
hsa04080Neuroactive ligand-receptor interaction
hsa04727GABAergic synapse
hsa04723Retrograde endocannabinoid signaling
hsa05033Nicotine addiction
hsa05032Morphine addiction
WikiPathways
WP706SIDS Susceptibility Pathways
Reactome
REACT_15370Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell
REACT_15518Transmembrane transport of small molecules
REACT_13477Transmission across Chemical Synapses
REACT_13685Neuronal System
REACT_24987GABA A receptor activation
REACT_25199GABA receptor activation
REACT_25300Ion channel transport
REACT_25387Ligand-gated ion channel transport
Homo sapiens (human)GABRA1NP_000797.2
Pan troglodytes (chimpanzee)GABRA1XP_001144644.2
Macaca mulatta (Rhesus monkey)GABRA1XP_002804660.1
Canis lupus familiaris (dog)LOC489143XP_546261.2
Bos taurus (cattle)GABRA1NP_001178048.1
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
Xenopus (Silurana) tropicalis (western clawed frog)gabra1XP_002941682.2
Process
IDNameEvidence
GO:0006810transportTAS
GO:0007214gamma-aminobutyric acid signaling pathwayIEA
GO:0007268synaptic transmissionTAS
GO:0034220ion transmembrane transportTAS
GO:0051932synaptic transmission, GABAergicISS
GO:0055085transmembrane transportTAS
GO:1902476chloride transmembrane transportIEA
Component
IDNameEvidence
GO:0005886plasma membraneTAS
GO:0005887integral component of plasma membraneISS
GO:0030054cell junctionIEA
GO:0034707chloride channel complexIEA
GO:0045211postsynaptic membraneIEA
Function
IDNameEvidence
GO:0004890GABA-A receptor activityIEA
GO:0005230extracellular ligand-gated ion channel activityIEA
GO:0005254chloride channel activityIEA
GO:0008144drug bindingISS
GO:0016917GABA receptor activityISS
GeneCards GABRA1
UniProt P14867, A8K177
Vega OTTHUMG00000163586
MIM 137160
Ensembl ENSG00000022355
HGNC 4075
HPRD 00662

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the GABRA1 gene?

The GABRA1 gene provides instructions for making one piece, the alpha-1 (α1) subunit, of the GABAA receptor protein. GABAA receptors are made up of different combinations of five protein subunits, each produced from a different gene. (Nineteen different genes provide instructions for GABAA receptor subunits.) These subunits form a hole (pore) in the cell membrane through which negatively charged chlorine atoms (chloride ions) can flow.

A chemical that transmits signals in the brain (a neurotransmitter) called gamma-amino butyric acid (GABA) attaches to GABAA receptors. Once GABA attaches, the pore formed by the subunits opens, and chloride ions flow across the cell membrane. After infancy, chloride ions flow into the cell through the open pore, which creates an environment in the cell that blocks (inhibits) signaling between neurons. The primary role of GABA in children and adults is to prevent the brain from being overloaded with too many signals. In contrast, in newborns and infants, chloride ions flow out of the cell when the pore is opened, creating an environment that allows signaling between neurons.

Interactant

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