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Aliases for GABRA1 Gene

Aliases for GABRA1 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Alpha1 Subunit 2 3
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 1 2 3 5
  • GABA(A) Receptor Subunit Alpha-1 3 4
  • GABA(A) Receptor, Alpha 1 3
  • GABA(A) Receptor 2
  • Alpha 1 2
  • EIEE19 3
  • ECA4 3
  • EJM5 3
  • EJM 3

External Ids for GABRA1 Gene

Previous GeneCards Identifiers for GABRA1 Gene

  • GC05P161391
  • GC05P161782
  • GC05P161209
  • GC05P161255
  • GC05P161206
  • GC05P156366

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 Type A Receptor Alpha1 Subunit) 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 Apoptosis Pathway and Transmission across Chemical Synapses. 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 and, along with GABAB receptors, are responsible for mediating the inhibitory effects of GABA. They are pentameric proteins, consisting of five subunits belonging to different families.

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

Regulatory Elements for GABRA1 Gene

Enhancers for GABRA1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GABRA1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for GABRA1 Gene

Chromosome:
5
Start:
161,847,191 bp from pter
End:
161,899,981 bp from pter
Size:
52,791 bases
Orientation:
Plus strand

Genomic View for GABRA1 Gene

Genes around GABRA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRA1 Gene

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

  • Glycosylation at Asn 38 and Asn 138
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GABRA1 Gene

Domains & Families for GABRA1 Gene

Gene Families for GABRA1 Gene

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 :
  • 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.
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.
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:0005254 chloride channel activity IEA --
genes like me logo Genes that share ontologies with GABRA1: view
genes like me logo Genes that share phenotypes with GABRA1: view

Human Phenotype Ontology for GABRA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GABRA1 Gene

MGI Knock Outs for GABRA1:

Animal Model Products

  • Taconic Biosciences Mouse Models for GABRA1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0034707 chloride channel complex IEA --
genes like me logo Genes that share ontologies with GABRA1: view

Pathways & Interactions for GABRA1 Gene

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

Pathways by source for GABRA1 Gene

Gene Ontology (GO) - Biological Process for GABRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0051932 synaptic transmission, GABAergic ISS --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with GABRA1: view

No data available for SIGNOR curated interactions for GABRA1 Gene

Drugs & Compounds for GABRA1 Gene

(121) Drugs for GABRA1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flumazenil Approved Pharma Antagonist, Allosteric regulator, antagonist, Target, Target, positive allosteric modulator Benzodiazepine antagonist 24
Etomidate Approved Pharma antagonist, Target, Target, agonist, positive allosteric modulator General anesthetic with GABA modulatory and GABA-mimetic actions 61
Zaleplon Approved, Illicit, Investigational Pharma Full agonist, Allosteric regulator, agonist, Target, potentiator 15
Zolpidem Approved Pharma Full agonist, Allosteric regulator, binder, Target, potentiator 98
Adinazolam Approved Pharma agonist, Target, potentiator 0

(14) Additional Compounds for GABRA1 Gene - From: IUPHAR, Tocris, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
gaba
56-12-2
5alpha-pregnan-3alpha-ol-20-one
Potentiation, Allosteric regulator
alpha3IA
Inverse agonist, Allosteric regulator
alpha5IA
Inverse agonist, Allosteric regulator
Ro154513
Inverse agonist, Allosteric regulator

(5) Tocris Compounds for GABRA1 Gene

Compound Action Cas Number
GABA Endogenous agonist 56-12-2
Isoguvacine hydrochloride Selective GABAA agonist 68547-97-7
Muscimol Potent GABAA agonist 2763-96-4
TACA GABAA agonist. Also GABA-T substrate and GABA uptake inhibitor 38090-53-8
ZAPA sulfate Agonist at 'low affinity' GABAA receptor. More potent than GABA/muscimol 371962-01-5

(11) ApexBio Compounds for GABRA1 Gene

Compound Action Cas Number
(+)-Bicuculline GABAA receptor antagonist,competitve and classical 485-49-4
(R)-baclofen 69308-37-8
Baicalin 21967-41-9
Bemegride 64-65-3
Etomidate General anesthetic with GABA modulatory and GABA-mimetic actions 33125-97-2
Flumazenil Benzodiazepine antagonist 78755-81-4
Gabapentin GABA enhancer 60142-96-3
Ginkgolide A 15291-75-5
Nefiracetam 77191-36-7
Niflumic acid Ca2+-activated Cl- channel blocker 4394-00-7
Rufinamide 106308-44-5
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) (x10.6), Brain - Anterior cingulate cortex (BA24) (x8.3), Brain - Cerebellar Hemisphere (x7.6), Brain - Cortex (x6.6), and Brain - Cerebellum (x5.5).

Protein differential expression in normal tissues from HIPED for GABRA1 Gene

This gene is overexpressed in Frontal cortex (50.7), Retina (11.2), and Fetal Brain (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GABRA1: view

Protein tissue co-expression partners for GABRA1 Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia GABRA1 35
  • 93.64 (n)
  • 99.12 (a)
GABRA1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC489143 35
  • 94.15 (n)
  • 98.9 (a)
GABRA1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabra1 35
  • 91.65 (n)
  • 98.68 (a)
Gabra1 16
Gabra1 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GABRA1 35
  • 99.42 (n)
  • 100 (a)
GABRA1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabra1 35
  • 90.7 (n)
  • 98.68 (a)
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
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)
zebrafish
(Danio rerio)
Actinopterygii gabra1 35
  • 77.65 (n)
  • 88.56 (a)
gabra1 36
  • 85 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2338 35
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
VAR_013642 Juvenile myoclonic epilepsy 5 (EJM5)
VAR_071809 Epileptic encephalopathy, early infantile, 19 (EIEE19)
VAR_071810 Epilepsy, idiopathic generalized 13 (EIG13)
VAR_071811 Epileptic encephalopathy, early infantile, 19 (EIEE19)
VAR_071812 Epileptic encephalopathy, early infantile, 19 (EIEE19)

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

Variation tolerance for GABRA1 Gene

Residual Variation Intolerance Score: 19.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GABRA1 Gene

Human Gene Mutation Database (HGMD)
GABRA1

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

Disorders for GABRA1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for GABRA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 19
  • eiee19
epilepsy, juvenile myoclonic 5
  • epilepsy, childhood absence 4
epilepsy, generalized, with febrile seizures plus, type 5
  • epilepsy, idiopathic generalized, 10
dravet syndrome
  • dravet syndrome, modifier of
gabra1-related juvenile myoclonic epilepsy
- elite association - COSMIC cancer census association via MalaCards

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.
  • 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.
  • 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.

Relevant External Links for GABRA1

Genetic Association Database (GAD)
GABRA1
Human Genome Epidemiology (HuGE) Navigator
GABRA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABRA1
genes like me logo Genes that share disorders with GABRA1: view

No data available for Genatlas for GABRA1 Gene

Publications for GABRA1 Gene

  1. 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 67
  2. Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex. (PMID: 20692323) Roden W.H. … Jansen L.A. (Neurosci. Lett. 2010) 3 25 26
  3. GABA(A) receptors as molecular targets of general anesthetics: identification of binding sites provides clues to allosteric modulation. (PMID: 21194017) Olsen R.W. … Li G.D. (Can J Anaesth 2011) 25 26
  4. Inhibition of recombinant L-type voltage-gated calcium channels by positive allosteric modulators of GABAA receptors. (PMID: 21262851) Earl D.E. … Tietz E.I. (J. Pharmacol. Exp. Ther. 2011) 25 26
  5. Searching for perfect sleep: the continuing evolution of GABAA receptor modulators as hypnotics. (PMID: 19942638) Nutt D.J. … Stahl S.M. (J. Psychopharmacol. (Oxford) 2010) 25 26

Products for GABRA1 Gene

Sources for GABRA1 Gene

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