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GABRA3 gamma-aminobutyric acid type A receptor alpha3 subunit [ Homo sapiens (human) ]

Gene ID: 2556, updated on 12-Nov-2017
Official Symbol
GABRA3provided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor alpha3 subunitprovided by HGNC
Primary source
HGNC:HGNC:4077
See related
Ensembl:ENSG00000011677 MIM:305660; Vega:OTTHUMG00000024183
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
Summary
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. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 11.7) and placenta (RPKM 1.8) See more
Orthologs
Location:
Xq28
Exon count:
10
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (152166234..152451359, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (151334706..151619831, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373369 Neighboring gene MAGEA10-MAGEA5 readthrough Neighboring gene MAGE family member A5 Neighboring gene MAGE family member A10 Neighboring gene RNA, U6 small nuclear 764, pseudogene Neighboring gene microRNA 105-1 Neighboring gene microRNA 105-2 Neighboring gene microRNA 767 Neighboring gene keratin 8 pseudogene 8 Neighboring gene uncharacterized LOC105373370 Neighboring gene gamma-aminobutyric acid type A receptor theta subunit

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
  • 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,...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC33793

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to GABA-A receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
benzodiazepine receptor activity TAS
Traceable Author Statement
more info
PubMed 
chloride channel activity IEA
Inferred from Electronic Annotation
more info
 
extracellular ligand-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
gamma-aminobutyric acid signaling pathway IEA
Inferred from Electronic Annotation
more info
 
transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
gamma-aminobutyric acid receptor subunit alpha-3
Names
GABA(A) receptor subunit alpha-3
GABA(A) receptor, alpha 3
gamma-aminobutyric acid (GABA) A receptor, alpha 3
gamma-animobutyric acid (GABA) A receptor, alpha 3

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_007102.1 RefSeqGene

    Range
    5000..289197
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000808.3NP_000799.1  gamma-aminobutyric acid receptor subunit alpha-3 precursor

    See identical proteins and their annotated locations for NP_000799.1

    Status: REVIEWED

    Source sequence(s)
    AC116666, BC028629, DA402645, S62908
    Consensus CDS
    CCDS14706.1
    UniProtKB/Swiss-Prot
    P34903
    Related
    ENSP00000359337.4, OTTHUMP00000025897, ENST00000370314.8, OTTHUMT00000060921
    Conserved Domains (3) summary
    TIGR00860
    Location:69478
    LIC; Cation transporter family protein
    pfam02931
    Location:68275
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:282475
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

    Range
    152166234..152451359 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724811.2XP_006724874.1  gamma-aminobutyric acid receptor subunit alpha-3 isoform X1

    Conserved Domains (2) summary
    pfam02931
    Location:68275
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:282310
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    151210380..151494516 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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