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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GABRA1 Gene

protein-coding   GIFtS: 67
GCID: GC05P161206

Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 11 2     GABA(A) Receptor1
GABA(A) Receptor Subunit Alpha-12 3     EJM2
ECA42 5     GABA(A) Receptor, Alpha 12
EJM52 5     Gamma-Aminobutyric Acid Receptor Subunit Alpha-12
Alpha 11     

External Ids:    HGNC: 40751   Entrez Gene: 25542   Ensembl: ENSG000000223557   OMIM: 1371605   UniProtKB: P148673   

Export aliases for GABRA1 gene to outside databases

Previous GC identifers: GC05P161391 GC05P161782 GC05P161209 GC05P161255 GC05P156366


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 epilepsy, childhood absence, susceptibility to, 4, and gabra1-related juvenile myoclonic epilepsy, and among its related super-pathways are Synaptic Neurotransmission: GABAergic Inhibition and Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell. GO annotations related to this gene include drug binding and extracellular ligand-gated ion channel activity. An important paralog of this gene is GABRG2.

UniProtKB/Swiss-Prot: GBRA1_HUMAN, P14867
Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by
binding to the GABA/benzodiazepine receptor and opening an integral chloride channel

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 (Gamma-aminobutyric acid A receptor, alpha 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_023133.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GABRA1 gene promoter:
         TBP   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GABRA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GABRA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GABRA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q34   Ensembl cytogenetic band:  5q34   HGNC cytogenetic band: 5q34

GABRA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRA1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P161206:  view genomic region     (about GC identifiers)

Start:
161,274,197 bp from pter      End:
161,326,975 bp from pter
Size:
52,779 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GBRA1_HUMAN, P14867 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit alpha-1 precursor  
Size: 456 amino acids; 51802 Da
Subunit: Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains:
alpha, beta, gamma, delta, and rho. Interacts with TRAK1 (By similarity)
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
membrane; Multi-pass membrane protein
Secondary accessions: D3DQK6 Q8N629

Explore the universe of human proteins at neXtProt for GABRA1: NX_P14867

Explore proteomics data for GABRA1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P14867

  • GABRA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GABRA1 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_000797.2  NP_001121115.1  NP_001121116.1  NP_001121117.1  NP_001121120.1  

    ENSEMBL proteins: 
     ENSP00000023897   ENSP00000393097   ENSP00000377517   ENSP00000415441   ENSP00000430895  
     ENSP00000430507   ENSP00000430435   ENSP00000408041   ENSP00000414232  
    Reactome Protein details: P14867
    Human Recombinant Protein Products for GABRA1: 
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    Novus Biologicals GABRA1 Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane ISS--
    GO:0016020membrane ----
    GO:0016021integral to membrane ----
    GO:0030054cell junction IEA--

    GABRA1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    GABRA: Ligand-gated ion channels / GABA(A) receptors
    GABR: GABA receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: α1 
    GABAA receptors

    5/7 InterPro protein domains (see all 7):
     IPR001390 GABAAa_rcpt
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel
     IPR005431 GABBAa1_rcpt

    Graphical View of Domain Structure for InterPro Entry P14867

    ProtoNet protein and cluster: P14867

    4 Blocks protein domains:
    IPB001390 Gamma-aminobutyric-acid A receptor alpha subunit signature
    IPB005431 Gamma-aminobutyric-acid A receptor alpha 1 subunit signature
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel


    UniProtKB/Swiss-Prot: GBRA1_HUMAN, P14867
    Similarity: 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


    GABRA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GBRA1_HUMAN, P14867
    Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by
    binding to the GABA/benzodiazepine receptor and opening an integral chloride channel

         Genatlas biochemistry entry for GABRA1:
    gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 1,subunit,component of a pentameric receptor mediating
    inhibitory neurotransmission

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004890GABA-A receptor activity IEA--
    GO:0005230extracellular ligand-gated ion channel activity IEA--
    GO:0005254chloride channel activity IEA--
    GO:0005515protein binding ----
    GO:0008144drug binding ISS--
         
    GABRA1 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 12 alleles(MGI details for Gabra1):
     behavior/neurological  growth/size  hearing/vestibular/ear  homeostasis/metabolism  mortality/aging 
     nervous system  no phenotypic analysis  normal  reproductive system 

    GABRA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GABRA1: Gabra1tm1.1Twr Gabra1tm1Twr Gabra1tm2.1Geh Gabra1tm1.1Geh

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GABRA1 
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    SwitchGear 3'UTR luciferase reporter plasmidGABRA1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRA1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GABRA1 About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1GABA A receptor activation
    GABA A receptor activation0.48
    Synaptic Neurotransmission: GABAergic Inhibition0.45
    Ligand-gated ion channel transport0.48
    GABA signaling in brain0.32
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    3Circadian entrainment
    GABAergic synapse0.53
    Retrograde endocannabinoid signaling0.51
    Morphine addiction0.53
    4Activation of GABAB receptors
    GABA receptor activation0.72
    5Akt Signaling
    Akt Signaling0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GABRA1
        GABA signaling in brain

    1 R&D Systems Pathway for GABRA1
        Synaptic Neurotransmission: GABAergic Inhibition

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GABRA1
        Sperm Motility
    Akt Signaling

    1 Tocris Bioscience Pathway for GABRA1
        Akt Pathway

    1 BioSystems Pathway for GABRA1
        SIDS Susceptibility Pathways

    5/8        Reactome Pathways for GABRA1 (see all 8)
        GABA A receptor activation
    Ligand-gated ion channel transport
    Transmission across Chemical Synapses
    Ion channel transport
    Neuronal System

    1 PharmGKB Pathway for GABRA1
        Benzodiazepine Pathway, Pharmacodynamics

    5         Kegg Pathways  (Kegg details for GABRA1):
        Neuroactive ligand-receptor interaction
    Retrograde endocannabinoid signaling
    GABAergic synapse
    Morphine addiction
    Nicotine addiction


    GABRA1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GABRA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/17 Interacting proteins for GABRA1 (P148673 ENSP000000238974) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP3CAQ082093, ENSP000003783234I2D: score=2 STRING: ENSP00000378323
    PRKCDQ056553, ENSP000003316024I2D: score=2 STRING: ENSP00000331602
    PRKCGP051293, ENSP000002634314I2D: score=2 STRING: ENSP00000263431
    DRD4P219173, ENSP000001761834I2D: score=1 STRING: ENSP00000176183
    PIK3R1P279863I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS2465923
    GO:0006811ion transport ----
    GO:0007214gamma-aminobutyric acid signaling pathway IEA--
    GO:0007268synaptic transmission TAS--
    GO:0034220ion transmembrane transport TAS--

    GABRA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GABRA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for GABRA1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (+)-BicucullinePotent GABAA antagonist[485-49-4]
    MuscimolPotent GABAA agonist[2763-96-4]
    (-)-Bicuculline methiodideWater-soluble GABAA antagonist[40709-69-1]
    (-)-Bicuculline methochlorideWater-soluble GABAA antagonist[53552-05-9]
    SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist [104104-50-9]

    5 HMDB Compounds for GABRA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Ethanol1-Hydroxyethane (see all 57)64-17-5--
    Gamma-Aminobutyric acid3-Carboxypropylamine (see all 27)56-12-2--
    TopiramateEpitomax (see all 5)97240-79-4--
    ZolpidemAmbien (see all 7)82626-48-0--

    10/67 DrugBank Compounds for GABRA1 (see all 67)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    PentobarbitalPentabarbital (see all 7)76-74-4targetpotentiator16866778 14579514 15240758 10209232 11264449 17139284 11752352 17016423 10487207 11744750 11605100
    Secobarbital(+/-)-Secobarbital (see all 6)76-73-3targetpotentiator2850060 3006661 14579514 10209232 11264449 17139284 11752352 17016423 10487207 2906155
    MethylphenobarbitalMephobarbital (see all 13)115-38-8targetpotentiator20692323 14579514 10209232 11264449 17139284 21194017 11752352 17016423 10487207
    ButalbitalAllylbarbital (see all 2)77-26-9targetpotentiator11279945 14579514 10209232 11264449 17139284 11752352 17016423 10487207
    Hexobarbital5-(1-cyclohexen-1-yl)-1,5-dimethylbarbituric acid (see all 4)56-29-1targetpotentiator14579514 10209232 11264449 17139284 11752352 17016423 10487207 10360871
    Thiamylal-- 77-27-0targetagonist11900777 14579514 10209232 18619475 11264449 17139284 10487207 17016423
    ButabarbitalButabarbital Sodium (see all 8)125-40-6targetpotentiator14579514 10209232 11264449 17139284 11752352 17016423 10487207
    Butethal5-Butyl-5-ethyl-2,4,6(1H,3H,5H)-pyrimidinetrione (see all 10)77-28-1targetpotentiator14579514 10209232 11264449 17139284 11752352 17016423 10487207
    Metharbital-- 50-11-3targetpotentiator14579514 10209232 11264449 17139284 11752352 17016423 10487207
    PhenobarbitalFenobarbital (see all 7)50-06-6targetpotentiator14579514 10209232 11264449 17139284 17016423 10487207 2871724

    10/39 IUPHAR Ligands for GABRA1 (α1) (see all 39)    About this table 
    LigandTypeActionAffinityPubmed IDs
    piperidine-4-sulphonic acid
    AgonistFull agonist--
    5α-pregnan-3α-ol-20-one
    Allosteric regulatorPotentiation--
    [3H]flunitrazepam
    NoneNone--
    [35S]TBPS
    NoneNone--
    TPA023
    Allosteric regulatorAntagonist--
    [3H]muscimol
    NoneNone--
    isoguvacine
    AgonistFull agonist--
    Zn2+
    Allosteric regulatorInhibition--
    isonipecotic acid
    AgonistAgonist--
    [11C]flumazenil
    NoneNone--

    1 Novoseek inferred chemical compound relationship for GABRA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaba 63.4 11 14706423 (2), 16569738 (1), 19294962 (1), 9861645 (1) (see all 8)

    Search CenterWatch for drugs/clinical trials and news about GABRA1 / GBRA1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GABRA1 gene (7 alternative transcripts): 
    NM_000806.5  NM_001127643.1  NM_001127644.1  NM_001127645.1  NM_001127648.1  NM_001127646.1  NM_001127647.1  

    Unigene Cluster for GABRA1:

    Gamma-aminobutyric acid (GABA) A receptor, alpha 1
    Hs.175934  [show with all ESTs]
    Unigene Representative Sequence: NM_001127644
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000023897 ENST00000428797(uc010jiw.3 uc010jix.3 uc010jiy.3)
    ENST00000393943 ENST00000437025(uc003lyx.4) ENST00000521339 ENST00000522651
    ENST00000519621 ENST00000519542 ENST00000420560(uc010jiz.3 uc010jjb.3)
    ENST00000444819(uc010jja.3)
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    Additional mRNA sequence: 

    AK223447.1 AK289792.1 AK295160.1 BC030696.1 X13584.1 X14766.1 

    8 DOTS entries:

    DT.110046  DT.305404  DT.120805196  DT.40190690  DT.40288455  DT.95080053  DT.95178057  DT.120805171 

    24/43 AceView cDNA sequences (see all 43):

    F07280 BM687883 NM_000806 F03552 Z44933 Z40095 BC030696 BM927274 
    Z40687 AV722228 AL119816 BX508303 BP359883 BP350040 BV203238 AA325450 
    X14766 AW005315 BP348789 CK002884 BP346633 BP361506 AV708951 CB155732 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GABRA1 expression in normal human tissues (normalized intensities)      GABRA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTGCTTTA
    GABRA1 Expression
    About this image


    GABRA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Neural Tube (Nervous System)
             Rhombencephalon
     
     Dermis (Integumentary System)
             Guard Dermal Papilla Cells Dermal Papilla
     
     Brain (Nervous System)

    See GABRA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GABRA1

    SOURCE GeneReport for Unigene cluster: Hs.175934
        SABiosciences Expression via Pathway-Focused PCR Arrays including GABRA1: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GABRA1 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabra11 , 5 gamma-aminobutyric acid (GABA) A receptor, subunit more1, 5 91.65(n)1
    98.68(a)1
      11 (24.97 cM)5
    143941  NM_010250.41  NP_034380.11 
     421309395 
    chicken
    (Gallus gallus)
    Aves GABRA11 gamma-aminobutyric acid (GABA) A receptor, alpha 1 84.18(n)
    96.04(a)
      374214  NM_204318.2  NP_989649.1 
    lizard
    (Anolis carolinensis)
    Reptilia GABRA16
    Uncharacterized protein
    92(a)
    1 ↔ 1
    1(106836985-106877561)
    zebrafish
    (Danio rerio)
    Actinopterygii gabra11 gamma-aminobutyric acid (GABA) A receptor, alpha 1 77.65(n)
    88.33(a)
      768183  NM_001077326.1  NP_001070794.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GABRA1 gene
    GABRG22  GABRE2  GABRA22  GABRA62  GABRA42  GABRG12  GABRA52  GABRG32  
    GABRA32  
    18/22 SIMAP similar genes for GABRA1 using alignment to 4 protein entries:     GBRA1_HUMAN (see all proteins) (see all similar genes):
    GABRA2    GABRA3    GABRA5    GABRA4    GABRA6    GABRG3
    GABRE    GABRG1    GABRG2    GLRA4    GABRP    GLRA1
    GABRB1    GLRA2    GLRA3    GABRR2    DKFZp781L0846    GABRB3

    GABRA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1246 SNPs in GABRA1 are shown (see all 1246)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0136424
    Juvenile myoclonic epilepsy 5 (EJM5)4--see VAR_0136422 A D mis40--------
    rs719681321,2
    C--156390361(+) TGCTC-/TGTGTGTGT
    GTGTGTGTGTG
    TGTGT
    5 -- int10--------
    rs718272931,2
    C--156395596(+) ATTCA-/ATTATAT 5 -- int10--------
    rs613137081,2
    C--161284994(+) AAAAA-/AGGAAA 5 -- int10--------
    rs105876601,2
    C--161291851(+) ataaa-/ATAAA 
            
    tataa
    5 -- int11Minor allele frequency- ATAAA:0.00NA 2
    rs665568411,2
    C--161297953(-) CCAGT-/CACACAC 5 -- int11Minor allele frequency- CA:0.00NA 2
    rs113523671,2
    C--161313355(+) TATGG-/TTTTTT 5 -- int1 trp31Minor allele frequency- T:0.00CSA 2
    rs30781091,2
    C--161319679(+) ACAAA-/CAAA  
            
    AACAA
    5 -- int10--------
    rs1500575301,2
    --161500754(+) TTGGAG/TTTGCA 1 -- us2k10--------
    rs358356161,2
    C,F--161500765(+) TTTTAG/ATGTGG 1 -- us2k13Minor allele frequency- A:0.06NA WA 122

    HapMap Linkage Disequilibrium report for GABRA1 (161274197 - 161326975 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GABRA1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2533707CNV Deletion19546169
    esv34078CNV Loss18971310
    nsv883074CNV Loss21882294


    Human Gene Mutation Database (HGMD): GABRA1
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for GABRA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 137160   
    OMIM disorders: 611136  
    UniProtKB/Swiss-Prot: GBRA1_HUMAN, P14867
  • 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. 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. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry

  • 20/29 diseases for GABRA1 (see all 29):    About MalaCards
    epilepsy, childhood absence, susceptibility to, 4    gabra1-related juvenile myoclonic epilepsy    juvenile myoclonic epilepsy    childhood absence epilepsy
    epilepsy, childhood absence, susceptibility to, 2    early myoclonic encephalopathy    juvenile absence epilepsy    heroin dependence
    idiopathic generalized epilepsy    mood disorder    fragile x syndrome    essential tremor
    tremor    precocious puberty    schizoaffective disorder    bipolar disorder
    alcohol dependence    anorexia nervosa    angelman syndrome    temporal lobe epilepsy

    3 diseases from the University of Copenhagen DISEASES database for GABRA1:
    Juvenile absence epilepsy     Idiopathic generalized epilepsy     Early myoclonic encephalopathy

    GABRA1 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for GABRA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myoclonic epilepsy juvenile 88.7 5 14631097 (1), 20308251 (1), 16839746 (1), 17008177 (1) (see all 5)
    childhood absence epilepsy 84.9 5 20308251 (1), 17008177 (1), 8739126 (1)
    epilepsy 54.2 3 20308251 (1), 17008177 (1), 18180303 (1)
    mood disorders 40.1 5 14706423 (3), 9861645 (1), 12946574 (1)
    bipolar disorder 29 2 14706423 (2)

    Genetic Association Database (GAD): GABRA1
    Human Genome Epidemiology (HuGE) Navigator: GABRA1 (32 documents)

    Export disorders for GABRA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GABRA1 gene, integrated from 9 sources (see all 201):
    (articles sorted by number of sources associating them with GABRA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 16569738)1, 4, 9 Brito V.N....Latronico A.C. (2006)
    2. Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. (PubMed id 16172613)1, 4, 9 Petryshen T.L....Sklar P. (2005)
    3. Possible association between a haplotype of the GABA-A receptor alpha 1 subunit gene (GABRA1) and mood disorders. (PubMed id 14706423)1, 4, 9 Horiuchi Y....Arinami T. (2004)
    4. Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. (PubMed id 16839746)1, 4, 9 Ma S....Hedera P. (2006)
    5. Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India. (PubMed id 14631097)1, 4, 9 Kapoor A....Anand A. (2003)
    6. Association analysis of GABA receptor subunit genes on 5q33 with heroin dependence in a Chinese male population. (PubMed id 17440936)1, 4, 9 Loh E.W....Stadlin A. (2007)
    7. Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder. (PubMed id 20583128)1, 4 Green E.K....Craddock N. (2010)
    8. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (2010)
    9. Association of alpha subunit of GABAA receptor subtyp e gene polymorphisms with epilepsy susceptibility and drug resistance in north Indian population. (PubMed id 20356767)1, 4 Kumari R....Mittal B. (2010)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2554 HGNC: 4075 AceView: GABRA1 Ensembl:ENSG00000022355 euGenes: HUgn2554
    ECgene: GABRA1 Kegg: 2554 H-InvDB: GABRA1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GABRA1 Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt056.shtml

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GABRA1 gene:
    Search GeneIP for patents involving GABRA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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