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Aliases for GABRA1 Gene

Aliases for GABRA1 Gene

  • Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 1 2 3
  • GABA(A) Receptor Subunit Alpha-1 3 4
  • ECA4 3 6
  • EJM5 3 6
  • Gamma-Aminobutyric Acid Receptor Subunit Alpha-1 3
  • GABA(A) Receptor, Alpha 1 3
  • GABA(A) Receptor 2
  • Alpha 1 2
  • EIEE19 3
  • EJM 3

External Ids for GABRA1 Gene

Summaries for GABRA1 Gene

Entrez Gene Summary for GABRA1 Gene

  • 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]

GeneCards Summary for GABRA1 Gene

GABRA1 (Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 1) is a Protein Coding gene. Diseases associated with GABRA1 include epileptic encephalopathy, early infantile, 19 and epilepsy, juvenile myoclonic 5. Among its related pathways are Akt Signaling and Apoptosis Pathway. GO annotations related to this gene include drug binding and extracellular ligand-gated ion channel activity. An important paralog of this gene is GABRA4.

UniProtKB/Swiss-Prot for GABRA1 Gene

  • Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel (By similarity).

Tocris Summary for GABRA1 Gene

  • GABAA receptors are members of the cys-loop family of ligand-gated ion channels, responsible for mediating the inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consisting of 5 subunits belonging to different families (alpha1-6, beta1-3, gamma1-3, delta, pi, epsilon, rho, theta). The most abundant GABAA receptor in the mammalian brain consist of two copies each of alpha1 and beta2 with a single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sites for benzodiazepines, barbiturates, neurosteroids and ethanol.

Gene Wiki entry for GABRA1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRA1 Gene

Genomics for GABRA1 Gene

Genomic Location for GABRA1 Gene

Start:
161,847,191 bp from pter
End:
161,899,969 bp from pter
Size:
52,779 bases
Orientation:
Plus strand

Genomic View for GABRA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GABRA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRA1 Gene

Regulatory Elements for GABRA1 Gene

Transcription factor binding sites by QIAGEN in the GABRA1 gene promoter:

Proteins for GABRA1 Gene

  • Protein details for GABRA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14867-GBRA1_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit alpha-1
    Protein Accession:
    P14867
    Secondary Accessions:
    • D3DQK6
    • Q8N629

    Protein attributes for GABRA1 Gene

    Size:
    456 amino acids
    Molecular mass:
    51802 Da
    Quaternary structure:
    • Interacts with TRAK1. Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Binds UBQLN1 (By similarity).

neXtProt entry for GABRA1 Gene

Proteomics data for GABRA1 Gene at MOPED

Post-translational modifications for GABRA1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn38 and Asn138

No data available for DME Specific Peptides for GABRA1 Gene

Domains for GABRA1 Gene

Gene Families for GABRA1 Gene

HGNC:
  • GABRA :Ligand-gated ion channels / GABA(A) receptors
  • GABR :GABA receptors
IUPHAR :

Suggested Antigen Peptide Sequences for GABRA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P14867

UniProtKB/Swiss-Prot:

GBRA1_HUMAN
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA1 sub-subfamily.:
    • P14867
genes like me logo Genes that share domains with GABRA1: view

Function for GABRA1 Gene

Molecular function for GABRA1 Gene

GENATLAS Biochemistry: gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 1,subunit,component of a pentameric receptor mediating inhibitory neurotransmission
UniProtKB/Swiss-Prot Function: Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel (By similarity).

Gene Ontology (GO) - Molecular Function for GABRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 GABA-A receptor activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA --
GO:0005515 protein binding --
GO:0008144 drug binding ISS --
genes like me logo Genes that share ontologies with GABRA1: view
genes like me logo Genes that share phenotypes with GABRA1: view

Animal Models for GABRA1 Gene

MGI Knock Outs for GABRA1:

miRNA for GABRA1 Gene

miRTarBase miRNAs that target GABRA1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for GABRA1 Gene

Localization for GABRA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRA1 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GABRA1 Gene COMPARTMENTS Subcellular localization image for GABRA1 gene
Compartment Confidence
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GABRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0016020 membrane --
GO:0016021 integral component of membrane --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRA1: view

Pathways for GABRA1 Gene

genes like me logo Genes that share pathways with GABRA1: view

Gene Ontology (GO) - Biological Process for GABRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 2465923
GO:0006811 ion transport --
GO:0007165 signal transduction --
GO:0007214 gamma-aminobutyric acid signaling pathway IEA --
GO:0007268 synaptic transmission TAS --
genes like me logo Genes that share ontologies with GABRA1: view

Compounds for GABRA1 Gene

(5) Tocris Compounds for GABRA1 Gene

Compound Action Cas Number
(-)-Bicuculline methiodide Water-soluble GABAA antagonist [40709-69-1]
(-)-Bicuculline methochloride Water-soluble GABAA antagonist [53552-05-9]
(+)-Bicuculline Potent GABAA antagonist [485-49-4]
Muscimol Potent GABAA agonist [2763-96-4]
SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist [104104-50-9]

(5) HMDB Compounds for GABRA1 Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6
Ethanol
  • 1-Hydroxyethane
64-17-5
Gamma-Aminobutyric acid
  • 3-Carboxypropylamine
56-12-2
Topiramate
  • Epitomax
97240-79-4
Zolpidem
  • Ambien
82626-48-0

(67) Drugbank Compounds for GABRA1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adinazolam
37115-32-5 target potentiator
Alprazolam
28981-97-7 target potentiator
Amobarbital
57-43-2 target potentiator
Amoxapine
14028-44-5 target antagonist
Aprobarbital
77-02-1 target potentiator

(39) IUPHAR Ligand for GABRA1 Gene

Ligand Type Action Affinity Pubmed IDs
Zn2+ Channel blocker None 6
piperidine-4-sulphonic acid Agonist Full agonist
5alpha-pregnan-3alpha-ol-20-one Allosteric regulator Potentiation
[3H]flunitrazepam None None
[35S]TBPS None None
TPA023 Allosteric regulator Antagonist
[3H]muscimol None None
isoguvacine Agonist Full agonist
isonipecotic acid Agonist Full agonist
[11C]flumazenil None None
alpha5IA Allosteric regulator Inverse agonist
DMCM Allosteric regulator Inverse agonist
zolpidem Allosteric regulator Full agonist
flunitrazepam Allosteric regulator Full agonist
[18F]fluoroethylflumazenil None None
bretazenil Allosteric regulator Full agonist
Ro4938581 Allosteric regulator Inverse agonist
THIP Agonist Agonist
Ro194603 Allosteric regulator Inverse agonist
alpha3IA Allosteric regulator Inverse agonist
tetrahydrodeoxycorticosterone Allosteric regulator Potentiation
gabazine Antagonist Antagonist
TBPS Channel blocker None
L838417 Allosteric regulator Partial agonist
muscimol Agonist Full agonist
ocinaplon Allosteric regulator Partial agonist
[3H]CGS8216 None None
indiplon Allosteric regulator Full agonist
zaleplon Allosteric regulator Full agonist
picrotoxin Channel blocker None
diazepam Allosteric regulator Full agonist
MRK016 Allosteric regulator Inverse agonist
flumazenil Allosteric regulator Partial agonist
ZK93426 Allosteric regulator Antagonist
[3H]gabazine None None
TP003 Allosteric regulator Antagonist
Ro154513 Allosteric regulator Full agonist
bicuculline Antagonist Antagonist
[3H]zolpidem None None

(1) Novoseek inferred chemical compound relationships for GABRA1 Gene

Compound -log(P) Hits PubMed IDs
gaba 63.4 9

(3) PharmGKB related drug/compound annotations for GABRA1 Gene

Drug/compound Annotation
carbamazepine CA
phenytoin CA
valproic acid CA
genes like me logo Genes that share compounds with GABRA1: view

Transcripts for GABRA1 Gene

Unigene Clusters for GABRA1 Gene

Gamma-aminobutyric acid (GABA) A receptor, alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GABRA1 Gene

No ASD Table

Relevant External Links for GABRA1 Gene

GeneLoc Exon Structure for
GABRA1
ECgene alternative splicing isoforms for
GABRA1

Expression for GABRA1 Gene

mRNA expression in normal human tissues for GABRA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRA1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (10.6), Brain - Anterior cingulate cortex (BA24) (8.3), Brain - Cerebellar Hemisphere (7.6), Brain - Cortex (6.6), and Brain - Cerebellum (5.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GABRA1 Gene

SOURCE GeneReport for Unigene cluster for GABRA1 Gene Hs.175934

genes like me logo Genes that share expressions with GABRA1: view

No data available for mRNA Expression by UniProt/SwissProt for GABRA1 Gene

Orthologs for GABRA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GABRA1 35
  • 99.42 (n)
  • 100 (a)
GABRA1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GABRA1 35
  • 93.64 (n)
  • 99.12 (a)
GABRA1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRA1 36
  • 99 (a)
OneToOne
LOC489143 35
  • 94.15 (n)
  • 98.9 (a)
mouse
(Mus musculus)
Mammalia Gabra1 35
  • 91.65 (n)
  • 98.68 (a)
Gabra1 16
Gabra1 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GABRA1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 97 (a)
OneToMany
-- 36
  • 98 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gabra1 35
  • 90.7 (n)
  • 98.68 (a)
chicken
(Gallus gallus)
Aves GABRA1 35
  • 84.18 (n)
  • 96.04 (a)
GABRA1 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRA1 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabra1 35
  • 75.35 (n)
  • 84.11 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2338 35
zebrafish
(Danio rerio)
Actinopterygii gabra1 35
  • 77.65 (n)
  • 88.56 (a)
gabra1 36
  • 85 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8916 37
  • 43 (a)
Grd 37
  • 48 (a)
Species with no ortholog for GABRA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GABRA1 Gene

ENSEMBL:
Gene Tree for GABRA1 (if available)
TreeFam:
Gene Tree for GABRA1 (if available)

Paralogs for GABRA1 Gene

Paralogs for GABRA1 Gene

genes like me logo Genes that share paralogs with GABRA1: view

Variants for GABRA1 Gene

Sequence variations from dbSNP and Humsavar for GABRA1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs748376 -- 161,893,230(-) AAAAG(A/T)TAAGA intron-variant
rs966137 -- 161,888,090(+) TTGTC(A/C)CATCT intron-variant
rs980790 -- 161,891,117(+) GTGAC(A/G)CTGCA intron-variant
rs980791 -- 161,891,430(+) GCAGA(A/G)CTACT intron-variant
rs998754 -- 161,898,928(-) TTACA(G/T)AGTAT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GABRA1 Gene

Variant ID Type Subtype PubMed ID
nsv883074 CNV Loss 21882294
esv34078 CNV Loss 18971310
esv2533707 CNV Deletion 19546169

Relevant External Links for GABRA1 Gene

HapMap Linkage Disequilibrium report
GABRA1
Human Gene Mutation Database (HGMD)
GABRA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRA1 Gene

Disorders for GABRA1 Gene

(1) OMIM Diseases for GABRA1 Gene (137160)

UniProtKB/Swiss-Prot

GBRA1_HUMAN
  • Epilepsy, childhood absence 4 (ECA4) [MIM:611136]: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. {ECO:0000269 PubMed:16718694}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Epilepsy, idiopathic generalized 13 (EIG13) [MIM:611136]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. {ECO:0000269 PubMed:21714819}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Juvenile myoclonic epilepsy 5 (EJM5) [MIM:611136]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. {ECO:0000269 PubMed:11992121}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Epileptic encephalopathy, early infantile, 19 (EIEE19) [MIM:615744]: A severe neurologic disorder characterized by onset of seizures in the first months of life and usually associated with EEG abnormalities. Affected infants have convulsive seizures (hemiclonic or generalized) that are often prolonged and triggered by fever. Other seizure types include focal, myoclonic, absence seizures, and drop attacks. Development is normal in the first year of life with later slowing and intellectual disability. {ECO:0000269 PubMed:24623842}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) Novoseek inferred disease relationships for GABRA1 Gene

Disease -log(P) Hits PubMed IDs
myoclonic epilepsy juvenile 88.7 5
childhood absence epilepsy 84.9 3
epilepsy 54.2 3
mood disorders 40.1 5
bipolar disorder 29 2

Relevant External Links for GABRA1

Genetic Association Database (GAD)
GABRA1
Human Genome Epidemiology (HuGE) Navigator
GABRA1
genes like me logo Genes that share disorders with GABRA1: view

Publications for GABRA1 Gene

  1. Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India. (PMID: 14631097) Kapoor A. … Anand A. (J. Genet. 2003) 3 23 48
  2. Possible association between a haplotype of the GABA-A receptor alpha 1 subunit gene (GABRA1) and mood disorders. (PMID: 14706423) Horiuchi Y. … Arinami T. (Biol. Psychiatry 2004) 3 23 48
  3. Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. (PMID: 16172613) Petryshen T.L. … Sklar P. (Mol. Psychiatry 2005) 3 23 48
  4. Allelic variants of the gamma-aminobutyric acid-A receptor alpha1-subunit gene (GABRA1) are not associated with idiopathic gonadotropin-dependent precocious puberty in girls with and without electroencephalographic abnormalities. (PMID: 16569738) Brito V.N. … Latronico A.C. (J. Clin. Endocrinol. Metab. 2006) 3 23 48
  5. Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. (PMID: 16839746) Ma S. … Hedera P. (Epilepsy Res. 2006) 3 23 48

Products for GABRA1 Gene

Sources for GABRA1 Gene

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