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Aliases for GABRA1 Gene

Aliases for GABRA1 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Alpha1 Subunit 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 1 2 3
  • GABA(A) Receptor Subunit Alpha-1 3 4
  • GABA(A) Receptor, Alpha 1 2 3
  • Gamma-Aminobutyric Acid Receptor Subunit Alpha-1 3
  • 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, Idiopathic Generalized 13. Among its related pathways are Akt Signaling and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Gene Ontology (GO) annotations related to this gene include drug binding and extracellular ligand-gated ion channel activity. An important paralog of this gene is GABRA2.

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

Additional gene information for GABRA1 Gene

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

Genomics for GABRA1 Gene

GeneHancer (GH) Regulatory Elements for GABRA1 Gene

Promoters and enhancers for GABRA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J161848 Promoter 0.6 EPDnew 650.7 +1.0 1038 0.1 EZH2 GABRA1 GC05P161873
GH05J161697 Enhancer 0.4 FANTOM5 5.6 -149.9 -149873 0.2 SIN3A GABRA6 GABRB2 GABRA1 GABRG2 ENSG00000253403 GLRXP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GABRA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GABRA1 gene promoter:
  • E47
  • TBP

Genomic Locations for GABRA1 Gene

Genomic Locations for GABRA1 Gene
chr5:161,847,063-161,899,981
(GRCh38/hg38)
Size:
52,919 bases
Orientation:
Plus strand
chr5:161,274,197-161,326,975
(GRCh37/hg19)
Size:
52,779 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:
    • Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Interacts with UBQLN1. Interacts with TRAK1. Interacts with KIF21B.

neXtProt entry for GABRA1 Gene

Post-translational modifications for GABRA1 Gene

  • Glycosylation at Asn138 and isoforms=38
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GABRA1 Gene

Domains & Families for GABRA1 Gene

Gene Families for GABRA1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

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

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).
GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 1,subunit,component of a pentameric receptor mediating inhibitory neurotransmission

Phenotypes From GWAS Catalog for GABRA1 Gene

Gene Ontology (GO) - Molecular Function for GABRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 contributes_to GABA-A receptor activity IBA,TAS --
GO:0005216 ion channel activity IEA --
GO:0005230 CONTRIBUTES_TO extracellular ligand-gated ion channel activity IBA,IEA --
GO:0005237 inhibitory extracellular ligand-gated ion channel activity IBA --
GO:0005254 chloride channel activity IBA,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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRA1

Clone Products

  • R&D Systems cDNA Clones for GABRA1 (GABA-A R alpha 1)

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. Cytoplasmic vesicle membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GABRA1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
golgi apparatus 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 IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GABRA1 Gene

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:0006821 chloride transport IEA --
GO:0007165 signal transduction IBA,IEA --
GO:0007214 gamma-aminobutyric acid signaling pathway IEA,TAS --
GO:0007268 chemical synaptic transmission IBA --
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

(213) 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 Partial agonist, Allosteric regulator, Antagonist, antagonist, Target, Target, positive allosteric modulator Benzodiazepine antagonist 27
Etomidate Approved Pharma antagonist, Target, Target, agonist, positive allosteric modulator General anesthetic with GABA modulatory and GABA-mimetic actions 68
Lorazepam Approved Pharma agonist, Target, positive allosteric modulator 130
Flunitrazepam Approved, Illicit Pharma Full agonist, Allosteric regulator, agonist, Target 2
Zaleplon Approved, Illicit, Investigational Pharma Full agonist, Allosteric regulator, agonist, Target, potentiator 19

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

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
Full agonist, Allosteric regulator, Inverse agonist

(4) Tocris Compounds for GABRA1 Gene

Compound Action Cas Number
Acamprosate calcium GABA agonist and glutamatergic modulator 77337-73-6
GABA Endogenous agonist 56-12-2
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

(100) ApexBio Compounds for GABRA1 Gene

Compound Action Cas Number
(-)-Bicuculline methiodide 40709-69-1
(-)-Bicuculline methobromide 73604-30-5
(-)-Bicuculline methochloride 53552-05-9
(+)-Bicuculline GABAA receptor antagonist,competitve and classical 485-49-4
(±)-Nipecotic acid 60252-41-7
(R)-baclofen 69308-37-8
(S)-SNAP 5114 GABA uptake inhibitor 157604-55-2
17-PA 694438-95-4
2-Hydroxysaclofen 117354-64-0
3-Methyl-GABA 71424-95-8
AA 29504 GABAA receptor modulator 945828-50-2
Allopregnanolone GABA-A receptor activator, selective 516-54-1
Alphaxalone 23930-19-0
AWD 131-138 GABAA receptor agonist 188116-07-6
Baicalin 21967-41-9
Bemegride 64-65-3
Bretazenil 84379-13-5
CGP 46381 123691-14-5
CGP 52432 139667-74-6
CGP 54626 hydrochloride 149184-21-4
CGP 7930 57717-80-3
CGS 20625 111205-55-1
Chlormethiazole hydrochloride 6001-74-7
CI 966 hydrochloride 110283-66-4
CL 218872 66548-69-4
Dihydroergotoxine mesylate 8067-24-1
DMCM hydrochloride 1215833-62-7
DPNI-caged-GABA activates GABAA receptor 927866-58-8
DS2 374084-31-8
Etifoxine GABAA receptor potentiator 21715-46-8
Etifoxine hydrochloride GABAA receptor potentiator 56776-32-0
Etomidate General anesthetic with GABA modulatory and GABA-mimetic actions 33125-97-2
Etomidate hydrochloride 53188-20-8
FG 7142 78538-74-6
FGIN-1-27 142720-24-9
FGIN-1-43 145040-29-5
Flumazenil Benzodiazepine antagonist 78755-81-4
Flunitrazepam 1622-62-4
Furosemide GABAA receptors antagonist 54-31-9
Gabapentin GABA enhancer 60142-96-3
Ganaxolone 38398-32-2
GBLD 345 benzodiazepine receptor agonist, potent 122479-08-7
Ginkgolide A 15291-75-5
GS 39783 39069-52-8
Guvacine hydrochloride 6027-91-4
Hispidulin 1447-88-7
Indiplon 325715-02-4
Isoguvacine hydrochloride 68547-97-7
L-655,708 130477-52-0
L-838,417 286456-42-6
Lorazepam 846-49-1
Loreclezole hydrochloride 117857-45-1
MK 0343 233275-76-8
MRK 016 783331-24-8
Muscimol GABAA receptor agonist, potent 2763-96-4
N-ArachidonylGABA 128201-89-8
NCS-382 520505-01-5
Nefiracetam 77191-36-7
Niflumic acid Ca2+-activated Cl- channel blocker 4394-00-7
NNC 05-2090 hydrochloride 184845-18-9
NNC 711 145645-62-1
Ocinaplon 96604-21-6
Org 20599 156685-94-8
Pentobarbital sodium salt 57-33-0
Pentylenetetrazole 54-95-5
Phaclofen 114012-12-3
Phenobarbital sodium salt 57-30-7
PHP 501 trifluoroacetate 1236105-75-1
PK 11195 85532-75-8
Pregnanolone 128-20-1
rac BHFF 123557-91-5
Retigabine dihydrochloride Antiepileptic compound 150812-13-8
Ro 15-4513 91917-65-6
Ro 19-4603 99632-94-7
RuBi GABA trimethylphosphine
RuBi-GABA 1028141-88-9
Rufinamide 106308-44-5
Saclofen 125464-42-8
SB 205384 positive GABAA receptor modulator 160296-13-9
SCS 3232-36-8
SKF 89976A hydrochloride 85375-15-1
SKF 97541 127729-35-5
SR 95531 hydrobromide 104104-50-9
TACA 38090-53-8
TB 21007 207306-50-1
TCS 1105 185391-33-7
TCS 1205 355022-97-8
THIP hydrochloride 85118-33-8
TP 003 628690-75-5
TPMPA 182485-36-5
Tracazolate hydrochloride 1135210-68-2
trans-4-Hydroxycrotonic acid 24587-49-3
U 89843A 157013-85-9
U 90042 134516-99-7
U 93631 152273-12-6
Valerenic acid 3569-10-6
ZAPA sulfate 371962-01-5
ZK 93423 hydrochloride GABAA receptor agonist 1216574-52-5
ZK 93426 hydrochloride 1216792-30-1
β-CCB 84454-35-3
genes like me logo Genes that share compounds with GABRA1: view

Drug Products

Transcripts for GABRA1 Gene

mRNA/cDNA for GABRA1 Gene

Unigene Clusters for GABRA1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRA1

Clone Products

  • R&D Systems cDNA Clones for GABRA1 (GABA-A R alpha 1)

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for GABRA1 Gene



Protein tissue co-expression partners for GABRA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GABRA1 Gene:

GABRA1

SOURCE GeneReport for Unigene cluster for GABRA1 Gene:

Hs.175934

Evidence on tissue expression from TISSUES for GABRA1 Gene

  • Nervous system(5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRA1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns 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 34 33
  • 99.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GABRA1 34
  • 99 (a)
OneToOne
LOC489143 33
  • 94.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 98 (a)
OneToMany
-- 34
  • 97 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia GABRA1 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GABRA1 34 33
  • 93.64 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gabra1 16 34 33
  • 91.65 (n)
rat
(Rattus norvegicus)
Mammalia Gabra1 33
  • 90.7 (n)
chicken
(Gallus gallus)
Aves GABRA1 34 33
  • 84.18 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRA1 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabra1 33
  • 75.35 (n)
zebrafish
(Danio rerio)
Actinopterygii gabra1 34 33
  • 77.65 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2338 33
fruit fly
(Drosophila melanogaster)
Insecta Grd 35
  • 48 (a)
CG8916 35
  • 43 (a)
Species where no ortholog for GABRA1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GABRA1: view image

Paralogs for GABRA1 Gene

Paralogs for GABRA1 Gene

(22) SIMAP similar genes for GABRA1 Gene using alignment to 4 proteins:

  • GBRA1_HUMAN
  • E5RHL6_HUMAN
  • E5RJS3_HUMAN
  • E5RK60_HUMAN
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 Variation AA Info Type
rs10059108 uncertain-significance, Juvenile myoclonic epilepsy 161,899,243(+) T/G 3_prime_UTR_variant
rs1006797468 likely-benign, Epilepsy, childhood absence 4, Epilepsy, juvenile myoclonic 5, Idiopathic generalized epilepsy 161,854,233(+) A/G coding_sequence_variant, synonymous_variant
rs1018564579 uncertain-significance, Juvenile myoclonic epilepsy 161,897,635(+) C/T 3_prime_UTR_variant
rs1041807218 uncertain-significance, Juvenile myoclonic epilepsy 161,899,023(+) T/G 3_prime_UTR_variant
rs1048584148 uncertain-significance, Juvenile myoclonic epilepsy 161,899,756(+) C/T 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
esv2533707 CNV deletion 19546169
esv34078 CNV loss 18971310
nsv600184 CNV loss 21841781

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)

Additional Variant Information for GABRA1 Gene

Human Gene Mutation Database (HGMD)
GABRA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRA1

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

Disorders for GABRA1 Gene

MalaCards: The human disease database

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

- 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.
  • 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, ECO:0000269 PubMed:27864847}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GABRA1

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

No data available for Genatlas for GABRA1 Gene

Publications for GABRA1 Gene

  1. Association analysis of GABA receptor subunit genes on 5q33 with heroin dependence in a Chinese male population. (PMID: 17440936) Loh EW … Stadlin A (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 22 44 58
  2. 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 VN … Latronico AC (The Journal of clinical endocrinology and metabolism 2006) 3 22 44 58
  3. Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. (PMID: 16839746) Ma S … Hedera P (Epilepsy research 2006) 3 22 44 58
  4. Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. (PMID: 16172613) Petryshen TL … Sklar P (Molecular psychiatry 2005) 3 22 44 58
  5. Possible association between a haplotype of the GABA-A receptor alpha 1 subunit gene (GABRA1) and mood disorders. (PMID: 14706423) Horiuchi Y … Arinami T (Biological psychiatry 2004) 3 22 44 58

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