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

Gene ID: 2558, updated on 23-Nov-2023

Summary

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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; AllianceGenome:HGNC:4079
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
DEE79; 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
mouse all
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Genomic context

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See GABRA5 in Genome Data Viewer
Location:
15q12
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (26866719..26949208)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (24607751..24690792)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (27111866..27194355)

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 NANOG hESC enhancer GRCh37_chr15:27010978-27011567 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:27011568-27012156 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:27012157-27012746 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:27034764-27035963 Neighboring gene ribosomal protein L9 pseudogene 26 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:27174238-27174786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:27189763-27190342 Neighboring gene TVP23B pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:27267034-27267535 Neighboring gene uncharacterized LOC124903449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:27284775-27285276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:27285277-27285776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:27297461-27297960 Neighboring gene gamma-aminobutyric acid type A receptor subunit gamma3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:27302839-27304038

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Effects of α5 GABA(A) receptor modulation on social interaction, memory, and neuroinflammation in a mouse model of Alzheimer's disease. Aranđelović J, et al. CNS Neurosci Ther, 2022 Nov. PMID 35822698, Free PMC Article
  2. Sex Differences in the Expression of the α5 Subunit of the GABA(A) Receptor in Alcoholics with and without Cirrhosis of the Liver. Janeczek P, et al. Alcohol Clin Exp Res, 2020 Feb. PMID 31840824, Free PMC Article
  3. RNAi screening of subtracted transcriptomes reveals tumor suppression by taurine-activated GABAA receptors involved in volume regulation. Wielders CLC, et al. PLoS One, 2018. PMID 29787571, Free PMC Article
  4. GABA(A) receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders. Yang S, et al. Sci Rep, 2017 Jun 12. PMID 28607477, Free PMC Article
  5. Using [(11)C]Ro15 4513 PET to characterise GABA-benzodiazepine receptors in opiate addiction: Similarities and differences with alcoholism. Lingford-Hughes A, et al. Neuroimage, 2016 May 15. PMID 26876472, Free PMC Article

See all (59) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel variants in GABAA receptor subunits: A possible association with benzodiazepine resistance in patients with drug-resistant epilepsy.
    Title: Novel variants in GABA(A) receptor subunits: A possible association with benzodiazepine resistance in patients with drug-resistant epilepsy.
  2. Effects of alpha5 GABAA receptor modulation on social interaction, memory, and neuroinflammation in a mouse model of Alzheimer's disease.
    Title: Effects of α5 GABA(A) receptor modulation on social interaction, memory, and neuroinflammation in a mouse model of Alzheimer's disease.
  3. GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands.
    Title: GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands.
  4. Sex Differences in the Expression of the alpha5 Subunit of the GABAA Receptor in Alcoholics with and without Cirrhosis of the Liver.
    Title: Sex Differences in the Expression of the α5 Subunit of the GABA(A) Receptor in Alcoholics with and without Cirrhosis of the Liver.
  5. study identified GABRA5 as a causative gene for early onset epileptic encephalopathy and expands the mutant GABRA1 phenotypic spectrum, supporting growing evidence that defects in GABAergic neurotransmission contribute to early onset epileptic encephalopathy phenotypes.
    Title: Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.
  6. both total GABAA and GABAA alpha5 receptor availability in two positron emission tomography imaging studies, are reported.
    Title: GABA(A) receptor availability is not altered in adults with autism spectrum disorder or in mouse models.
  7. cryo-EM structure of the human alpha5beta3 GABAA receptor
    Title: Cryo-EM structure of the human α5β3 GABA(A) receptor.
  8. The GABRA5 p.V294L variant produced receptors that were 10-times more sensitive to GABA but had reduced maximal GABA-evoked current due to increased receptor desensitization.
    Title: De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
  9. Meta-analysis showed that GABRA5 polymorphisms are not significantly associated with autism.
    Title: Meta-Analysis of the Association between GABA Receptor Polymorphisms and Autism Spectrum Disorder (ASD).
  10. GABAA receptor gene polymorphisms can predict symptom-based and developmental deficits in autistic spectrum disorders individuals.
    Title: GABA(A) receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders.
Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 79
MedGen: C5231410 OMIM: 618559 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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 PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC138184

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 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
  
enables GABA-gated chloride ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to benzodiazepine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IDA
Inferred from Direct Assay
more info
 PubMed 
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential NAS
Non-traceable Author Statement
more info
 PubMed 
enables signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in associative learning IEA
Inferred from Electronic Annotation
more info
  
involved_in behavioral fear response IEA
Inferred from Electronic Annotation
more info
  
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cochlea development IEA
Inferred from Electronic Annotation
more info
  
involved_in gamma-aminobutyric acid signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in inhibitory synapse assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in inner ear receptor cell development IEA
Inferred from Electronic Annotation
more info
  
involved_in innervation IEA
Inferred from Electronic Annotation
more info
  
involved_in nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of presynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in synaptic transmission, GABAergic IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
  
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in dendrite membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in neuronal cell body membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
is_active_in postsynapse IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
  
located_in presynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of transmembrane transporter complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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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)

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NEW Try the new Transcript table

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_000810.4 → NP_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
    A8K338, P31644, Q14DC2, Q53XL6, Q9NYT3, Q9NYT4, Q9NYT5
    UniProtKB/TrEMBL
    B4DFX3
    Related
    ENSP00000335592.5, ENST00000335625.10
    Conserved Domains (2) summary
    cd19038
    Location:58 → 256
    LGIC_ECD_GABAAR_A5; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-5 (GABAAR-A5 or GABRA5)
    cd19052
    Location:259 → 445
    LGIC_TM_GABAAR_alpha; transmembrane domain of alpha subunits of type-A gamma-aminobutyric acid receptor (GABAAR)

  2. NM_001165037.2 → NP_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)
    AC135999, BC011403, BC111979, DB506215, R49008
    Consensus CDS
    CCDS45194.1
    UniProtKB/Swiss-Prot
    A8K338, P31644, Q14DC2, Q53XL6, Q9NYT3, Q9NYT4, Q9NYT5
    UniProtKB/TrEMBL
    B4DFX3
    Related
    ENSP00000382953.3, ENST00000400081.7
    Conserved Domains (2) summary
    cd19038
    Location:58 → 256
    LGIC_ECD_GABAAR_A5; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-5 (GABAAR-A5 or GABRA5)
    cd19052
    Location:259 → 445
    LGIC_TM_GABAAR_alpha; transmembrane domain of alpha subunits of type-A gamma-aminobutyric acid receptor (GABAAR)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    26866719..26949208
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022055.2 → XP_016877544.1  gamma-aminobutyric acid receptor subunit alpha-5 isoform X2

  2. XM_047432338.1 → XP_047288294.1  gamma-aminobutyric acid receptor subunit alpha-5 isoform X2

  3. XM_006720459.3 → XP_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
    A8K338, P31644, Q14DC2, Q53XL6, Q9NYT3, Q9NYT4, Q9NYT5
    UniProtKB/TrEMBL
    B4DFX3
    Conserved Domains (2) summary
    cd19038
    Location:58 → 256
    LGIC_ECD_GABAAR_A5; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-5 (GABAAR-A5 or GABRA5)
    cd19052
    Location:259 → 445
    LGIC_TM_GABAAR_alpha; transmembrane domain of alpha subunits of type-A gamma-aminobutyric acid receptor (GABAAR)

  4. XM_017022056.2 → XP_016877545.1  gamma-aminobutyric acid receptor subunit alpha-5 isoform X2

  5. XM_005268258.3 → XP_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
    A8K338, P31644, Q14DC2, Q53XL6, Q9NYT3, Q9NYT4, Q9NYT5
    UniProtKB/TrEMBL
    B4DFX3
    Conserved Domains (2) summary
    cd19038
    Location:58 → 256
    LGIC_ECD_GABAAR_A5; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-5 (GABAAR-A5 or GABRA5)
    cd19052
    Location:259 → 445
    LGIC_TM_GABAAR_alpha; transmembrane domain of alpha subunits of type-A gamma-aminobutyric acid receptor (GABAAR)

  6. XM_047432339.1 → XP_047288295.1  gamma-aminobutyric acid receptor subunit alpha-5 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    24607751..24690792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377665.1 → XP_054233640.1  gamma-aminobutyric acid receptor subunit alpha-5 isoform X2

  2. XM_054377664.1 → XP_054233639.1  gamma-aminobutyric acid receptor subunit alpha-5 isoform X2

  3. XM_054377662.1 → XP_054233637.1  gamma-aminobutyric acid receptor subunit alpha-5 isoform X1

    UniProtKB/Swiss-Prot
    A8K338, P31644, Q14DC2, Q53XL6, Q9NYT3, Q9NYT4, Q9NYT5
    UniProtKB/TrEMBL
    B4DFX3

  4. XM_054377667.1 → XP_054233642.1  gamma-aminobutyric acid receptor subunit alpha-5 isoform X2

  5. XM_054377663.1 → XP_054233638.1  gamma-aminobutyric acid receptor subunit alpha-5 isoform X1

    UniProtKB/Swiss-Prot
    A8K338, P31644, Q14DC2, Q53XL6, Q9NYT3, Q9NYT4, Q9NYT5
    UniProtKB/TrEMBL
    B4DFX3

  6. XM_054377666.1 → XP_054233641.1  gamma-aminobutyric acid receptor subunit alpha-5 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P31644.1 GenPept UniProtKB/Swiss-Prot:P31644

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