Format

Send to:

Choose Destination

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

Gene ID: 2558, updated on 24-May-2020

Summary

Official Symbol
GABRA5provided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor subunit alpha5provided 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
Also known as
EIEE79
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
109.20200228 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (26867062..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 subunit beta3 Neighboring gene uncharacterized LOC112268151 Neighboring gene ribosomal protein L9 pseudogene 26 Neighboring gene TVP23B pseudogene 1 Neighboring gene gamma-aminobutyric acid type A receptor subunit gamma3 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 Functions

What'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

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
 
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 
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 
contributes_to chloride 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 
neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signaling receptor activity TAS
Traceable Author Statement
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 
transporter 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
 
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 
cochlea development IEA
Inferred from Electronic Annotation
more info
 
gamma-aminobutyric acid signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inner ear receptor cell development IEA
Inferred from Electronic Annotation
more info
 
innervation IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
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 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
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 
Component Evidence Code Pubs
GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GABA-ergic synapse 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
 
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 postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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-5
Names
GABA(A) receptor subunit alpha-5
gamma-aminobutyric acid (GABA) A receptor, alpha 5
gamma-aminobutyric acid type A receptor alpha5 subunit

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
    5344..87490
    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 Updated 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_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    26867062..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
Support Center