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

    Gene ID: 2558, updated on 14-Nov-2024

    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (26866719..26949208)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (24607751..24690792)
    RS_2024_09 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 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. Cloning and expression of a cDNA encoding the human GABA-A receptor alpha 5 subunit. Wingrove P, et al. Biochem Soc Trans, 1992 Feb. PMID 1321750
    3. Human gamma-aminobutyric acid-type A receptor alpha5 subunit gene (GABRA5): characterization and structural organization of the 5' flanking region. Kim Y, et al. Genomics, 1997 Jun 15. PMID 9205108
    4. A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications. Ritchie RJ, et al. Hum Mol Genet, 1998 Aug. PMID 9668167
    5. Association between GABA-A receptor alpha 5 subunit gene locus and schizophrenia of a later age of onset. Papadimitriou G, et al. Neuropsychobiology, 2001. PMID 11287792

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. An association study in the Taiwan Biobank elicits the GABAA receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci for sleep duration in the Taiwanese population.
      Title: An association study in the Taiwan Biobank elicits the GABAA receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci for sleep duration in the Taiwanese population.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. cryo-EM structure of the human alpha5beta3 GABAA receptor
      Title: Cryo-EM structure of the human α5β3 GABA(A) receptor.
    9. 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.
    10. 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).
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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-A receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables GABA-gated chloride ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GABA-gated chloride ion channel activity ISS
    Inferred from Sequence or Structural Similarity
    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 gamma-aminobutyric acid signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    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 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
    		  
    part_of GABA-A receptor complex ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    located_in neuronal cell body membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    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
    		  

    General protein information

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    Preferred Names
    gamma-aminobutyric acid receptor subunit alpha-5
    Names
    GABA(A) receptor subunit alpha-5
    GABAAR 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_2024_08

    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

    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

    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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