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    GABRA1 gamma-aminobutyric acid type A receptor alpha1 subunit [ Homo sapiens (human) ]

    Gene ID: 2554, updated on 17-Jun-2019

    Summary

    Official Symbol
    GABRA1provided by HGNC
    Official Full Name
    gamma-aminobutyric acid type A receptor alpha1 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:4075
    See related
    Ensembl:ENSG00000022355 MIM:137160
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EJM; ECA4; EJM5; EIEE19
    Summary
    This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward brain (RPKM 37.3) See more
    Orthologs

    Genomic context

    See GABRA1 in Genome Data Viewer
    Location:
    5q34
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (161847191..161899971)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (161274197..161326965)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type A receptor alpha6 subunit Neighboring gene glutaredoxin pseudogene 3 Neighboring gene uncharacterized LOC105377696 Neighboring gene long intergenic non-protein coding RNA 1202 Neighboring gene gamma-aminobutyric acid type A receptor gamma2 subunit

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Epilepsy, juvenile myoclonic 5
    MedGen: C4013473 OMIM: 611136 GeneReviews: Not available
    not available
    Epileptic encephalopathy, early infantile, 19
    MedGen: C3810400 OMIM: 615744 GeneReviews: Not available
    not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2017-08-09)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated (2017-08-09)

    ClinGen Genome Curation PagePubMed

    Pathways from BioSystems

    • GABA A receptor activation, organism-specific biosystem (from REACTOME)
      GABA A receptor activation, organism-specific biosystemGABA B receptors are G protein coupled receptors that are activated by GABA binding to the B1 subunit and B2 subunit alters the activity of adenylate cyclase by interacting with the G alpha i/alpha 0...
    • GABA receptor activation, organism-specific biosystem (from REACTOME)
      GABA receptor activation, organism-specific biosystemGamma aminobutyric acid (GABA) receptors are the major inhibitory receptors in human synapses. They are of two types. GABA A receptors are fast-acting ligand gated chloride ion channels that mediate ...
    • GABAergic synapse, organism-specific biosystem (from KEGG)
      GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • GABAergic synapse, conserved biosystem (from KEGG)
      GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Ligand-gated ion channel transport, organism-specific biosystem (from REACTOME)
      Ligand-gated ion channel transport, organism-specific biosystemLigand-gated ion channels (LGICs) are a group of transmembrane ion channels that are opened or closed in response to the binding of a chemical messenger (Purves, 2001).
    • Morphine addiction, organism-specific biosystem (from KEGG)
      Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Morphine addiction, conserved biosystem (from KEGG)
      Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
      Neuroactive ligand-receptor interaction
    • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
      Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
    • Nicotine addiction, organism-specific biosystem (from KEGG)
      Nicotine addiction, organism-specific biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
    • Nicotine addiction, conserved biosystem (from KEGG)
      Nicotine addiction, conserved biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
    • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
      Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
      Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    • Taste transduction, organism-specific biosystem (from KEGG)
      Taste transduction, organism-specific biosystemFive basic tastes are recognized by humans and most other animals - bitter, sweet, sour, salty and umami. In vertebrates, taste stimuli are detected by taste receptor cells (TRCs). At least three dis...
    • Taste transduction, conserved biosystem (from KEGG)
      Taste transduction, conserved biosystemFive basic tastes are recognized by humans and most other animals - bitter, sweet, sour, salty and umami. In vertebrates, taste stimuli are detected by taste receptor cells (TRCs). At least three dis...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to GABA receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    contributes_to GABA-A receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    GABA-gated chloride ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    GABA-gated chloride ion channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to GABA-gated chloride ion channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to benzodiazepine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    drug binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    contributes_to extracellular ligand-gated ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    inhibitory extracellular ligand-gated ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to histamine IEA
    Inferred from Electronic Annotation
    more info
     
    chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chloride transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    gamma-aminobutyric acid signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    inhibitory synapse assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nervous system process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of postsynaptic membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    synaptic transmission, GABAergic IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    synaptic transmission, GABAergic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    GABA receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    GABA-A receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    GABA-A receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    gamma-aminobutyric acid receptor subunit alpha-1
    Names
    GABA(A) receptor subunit alpha-1
    GABA(A) receptor, alpha 1
    gamma-aminobutyric acid (GABA) A receptor, alpha 1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011548.1 RefSeqGene

      Range
      5001..57769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000806.5NP_000797.2  gamma-aminobutyric acid receptor subunit alpha-1 precursor

      See identical proteins and their annotated locations for NP_000797.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses the 5'-most alternate exon in the 5' UTR. Variants 1-7 encode the same protein.
      Source sequence(s)
      AC021079, AK289792, X14766
      Consensus CDS
      CCDS4357.1
      UniProtKB/Swiss-Prot
      P14867
      UniProtKB/TrEMBL
      A8K177
      Related
      ENSP00000023897.6, ENST00000023897.10
      Conserved Domains (1) summary
      cl27321
      Location:14442
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    2. NM_001127643.2NP_001121115.1  gamma-aminobutyric acid receptor subunit alpha-1 precursor

      See identical proteins and their annotated locations for NP_001121115.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same protein.
      Source sequence(s)
      AC021079, DA228536, DB487114, R60404, X13584, X14766
      Consensus CDS
      CCDS4357.1
      UniProtKB/Swiss-Prot
      P14867
      Related
      ENSP00000393097.2, ENST00000428797.7
      Conserved Domains (1) summary
      cl27321
      Location:14442
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    3. NM_001127644.2NP_001121116.1  gamma-aminobutyric acid receptor subunit alpha-1 precursor

      See identical proteins and their annotated locations for NP_001121116.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same protein.
      Source sequence(s)
      AC021079, DA075784, DA228536, R60404, X14766
      Consensus CDS
      CCDS4357.1
      UniProtKB/Swiss-Prot
      P14867
      Related
      ENSP00000377517.4, ENST00000393943.10
      Conserved Domains (1) summary
      cl27321
      Location:14442
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    4. NM_001127645.2NP_001121117.1  gamma-aminobutyric acid receptor subunit alpha-1 precursor

      See identical proteins and their annotated locations for NP_001121117.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same protein.
      Source sequence(s)
      AC021079, BC030696, DC307259
      Consensus CDS
      CCDS4357.1
      UniProtKB/Swiss-Prot
      P14867
      Related
      ENSP00000415441.2, ENST00000437025.6
      Conserved Domains (1) summary
      cl27321
      Location:14442
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    5. NM_001127648.2NP_001121120.1  gamma-aminobutyric acid receptor subunit alpha-1 precursor

      See identical proteins and their annotated locations for NP_001121120.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same protein.
      Source sequence(s)
      AC021079, DA232066, DC334834, X14766
      Consensus CDS
      CCDS4357.1
      UniProtKB/Swiss-Prot
      P14867
      Related
      ENSP00000490320.1, ENST00000636573.1
      Conserved Domains (1) summary
      cl27321
      Location:14442
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      161847191..161899971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001127646.1: Suppressed sequence

      Description
      NM_001127646.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript
    2. NM_001127647.1: Suppressed sequence

      Description
      NM_001127647.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
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