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GABRA5 gamma-aminobutyric acid type A receptor alpha5 subunit [ Homo sapiens (human) ]

Gene ID: 2558, updated on 21-Apr-2019

Summary

Official Symbol
GABRA5provided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor alpha5 subunitprovided by HGNC
Primary source
HGNC:HGNC:4079
See related
Ensembl:ENSG00000186297 MIM:137142
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. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward brain (RPKM 10.5) See more
Orthologs

Genomic context

See GABRA5 in Genome Data Viewer
Location:
15q12
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (26866719..26949210)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (27111866..27194357)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type A receptor beta3 subunit Neighboring gene uncharacterized LOC112268151 Neighboring gene ribosomal protein L9 pseudogene 26 Neighboring gene TVP23B pseudogene 1 Neighboring gene gamma-aminobutyric acid type A receptor gamma3 subunit Neighboring gene uncharacterized LOC107984766

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat The gene expression of gamma-aminobutyric acid A receptor alpha 5 subunit is significantly upregulated in clade B Tat treated SK-N-MC neuroblastoma cells PubMed

Go to the HIV-1, Human Interaction Database

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...
  • 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

Clone Names

  • MGC138184

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GABA receptor binding IEA
Inferred from Electronic Annotation
more info
 
signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
associative learning IEA
Inferred from Electronic Annotation
more info
 
behavioral fear response IEA
Inferred from Electronic Annotation
more info
 
brain development IEA
Inferred from Electronic Annotation
more info
 
cochlea development IEA
Inferred from Electronic Annotation
more info
 
inner ear receptor cell development IEA
Inferred from Electronic Annotation
more info
 
innervation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
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
 
cytosol IDA
Inferred from Direct Assay
more info
 
integral component of postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
gamma-aminobutyric acid receptor subunit alpha-5
Names
GABA(A) receptor subunit alpha-5
gamma-aminobutyric acid (GABA) A receptor, alpha 5

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_032883.1 RefSeqGene

    Range
    5001..87492
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000810.4NP_000801.1  gamma-aminobutyric acid receptor subunit alpha-5 precursor

    See identical proteins and their annotated locations for NP_000801.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC011403, BC113422, L08485, R49008
    Consensus CDS
    CCDS45194.1
    UniProtKB/Swiss-Prot
    P31644
    Related
    ENSP00000335592.5, ENST00000335625.10
    Conserved Domains (1) summary
    cl27321
    Location:51448
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  2. NM_001165037.1NP_001158509.1  gamma-aminobutyric acid receptor subunit alpha-5 precursor

    See identical proteins and their annotated locations for NP_001158509.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC011403, BC111979, DB506215, R49008
    Consensus CDS
    CCDS45194.1
    UniProtKB/Swiss-Prot
    P31644
    Related
    ENSP00000382953.3, ENST00000400081.7
    Conserved Domains (1) summary
    cl27321
    Location:51448
    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.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    26866719..26949210
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720459.2XP_006720522.1  gamma-aminobutyric acid receptor subunit alpha-5 isoform X1

    See identical proteins and their annotated locations for XP_006720522.1

    UniProtKB/Swiss-Prot
    P31644
    Conserved Domains (1) summary
    cl27321
    Location:51448
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  2. XM_017022055.1XP_016877544.1  gamma-aminobutyric acid receptor subunit alpha-5 isoform X2

  3. XM_017022056.1XP_016877545.1  gamma-aminobutyric acid receptor subunit alpha-5 isoform X2

  4. XM_005268258.2XP_005268315.1  gamma-aminobutyric acid receptor subunit alpha-5 isoform X1

    See identical proteins and their annotated locations for XP_005268315.1

    UniProtKB/Swiss-Prot
    P31644
    Conserved Domains (1) summary
    cl27321
    Location:51448
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
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