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    GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 [ Homo sapiens (human) ]

    Gene ID: 2554, updated on 28-Oct-2024

    Summary

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    Official Symbol
    GABRA1provided by HGNC
    Official Full Name
    gamma-aminobutyric acid type A receptor subunit alpha1provided by HGNC
    Primary source
    HGNC:HGNC:4075
    See related
    Ensembl:ENSG00000022355 MIM:137160; AllianceGenome:HGNC:4075
    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
    EJM; ECA4; EJM5; DEE19; EIEE19
    Summary
    This gene encodes a gamma-aminobutyric acid (GABA) receptor. 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. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward brain (RPKM 37.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See GABRA1 in Genome Data Viewer
    Location:
    5q34
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (161847191..161899971)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (162376027..162428794)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (161274197..161326977)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene GABRA6 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:161139938-161140544 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha6 Neighboring gene glutaredoxin pseudogene 3 Neighboring gene uncharacterized LOC105377696 Neighboring gene long intergenic non-protein coding RNA 1202 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:161463099-161463705 Neighboring gene gamma-aminobutyric acid type A receptor subunit gamma2

    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. The GABAA receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation. Gallagher MJ, et al. Proc Natl Acad Sci U S A, 2007 Aug 7. PMID 17670950, Free PMC Article
    2. Association study of GABA system genes polymorphisms with amphetamine-induced psychotic disorder in a Han Chinese population. Zhang K, et al. Neurosci Lett, 2016 May 27. PMID 27080428
    3. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Cossette P, et al. Nat Genet, 2002 Jun. PMID 11992121
    4. De novo GABRA1 mutations in Ohtahara and West syndromes. Kodera H, et al. Epilepsia, 2016 Apr. PMID 26918889
    5. Endoplasmic reticulum retention and associated degradation of a GABAA receptor epilepsy mutation that inserts an aspartate in the M3 transmembrane segment of the alpha1 subunit. Gallagher MJ, et al. J Biol Chem, 2005 Nov 11. PMID 16123039

    See all (156) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human.
      Title: Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human.
    2. Impact of GABAA receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study.
      Title: Impact of GABA(A) receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study.
    3. GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients.
      Title: GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients.
    4. In Silico Screening of Novel alpha1-GABAA Receptor PAMs towards Schizophrenia Based on Combined Modeling Studies of Imidazo [1,2-a]-Pyridines.
      Title: In Silico Screening of Novel α1-GABA(A) Receptor PAMs towards Schizophrenia Based on Combined Modeling Studies of Imidazo [1,2-a]-Pyridines.
    5. Inhibition of microRNA-129-2-3p protects against refractory temporal lobe epilepsy by regulating GABRA1.
      Title: Inhibition of microRNA-129-2-3p protects against refractory temporal lobe epilepsy by regulating GABRA1.
    6. Gene expression meta-analysis reveals the down-regulation of three GABA receptor subunits in the superior temporal gyrus of patients with schizophrenia.
      Title: Gene expression meta-analysis reveals the down-regulation of three GABA receptor subunits in the superior temporal gyrus of patients with schizophrenia.
    7. Photoaffinity labeling identifies an intersubunit steroid-binding site in heteromeric GABA type A (GABAA) receptors.
      Title: Photoaffinity labeling identifies an intersubunit steroid-binding site in heteromeric GABA type A (GABA(A)) receptors.
    8. Differential Coassembly of alpha1-GABAARs Associated with Epileptic Encephalopathy.
      Title: Differential Coassembly of α1-GABA(A)Rs Associated with Epileptic Encephalopathy.
    9. A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro.
      Title: A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro.
    10. Phenotypic variability of GABRA1-related epilepsy in monozygotic twins.
      Title: Phenotypic variability of GABRA1-related epilepsy in monozygotic twins.
    Submit: New GeneRIF Correction See all GeneRIFs (107)

    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, 19
    MedGen: C3810400 OMIM: 615744 GeneReviews: Not available
    		not available
    Epilepsy, idiopathic generalized, susceptibility to, 13
    MedGen: C4013473 OMIM: 611136 GeneReviews: Not available
    		not available

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2021-11-09)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-11-09)

    ClinGen Genome Curation Page

    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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to GABA receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables GABA-A receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  
    contributes_to GABA-gated chloride ion channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GABA-gated chloride ion channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 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 chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chloride transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in gamma-aminobutyric acid signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in gamma-aminobutyric acid signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in inhibitory synapse assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in inhibitory synapse assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of postsynaptic membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in synaptic transmission, GABAergic IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in synaptic transmission, GABAergic IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in synaptic transmission, GABAergic ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in synaptic transmission, GABAergic NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of GABA receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of GABA-A receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of GABA-A receptor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of GABA-A receptor complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in dendrite membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in dendritic spine IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    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-1
    Names
    GABA(A) receptor subunit alpha-1
    GABA(A) receptor, alpha 1
    GABAAR subunit alpha-1
    gamma-aminobutyric acid (GABA) A receptor, alpha 1
    gamma-aminobutyric acid type A receptor alpha1 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_011548.1 RefSeqGene

      Range
      5930..57781
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000806.5 → NP_000797.2  gamma-aminobutyric acid receptor subunit alpha-1 precursor

      See identical proteins and their annotated locations for NP_000797.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses the 5'-most alternate exon in the 5' UTR. Variants 1-7 encode the same protein.
      Source sequence(s)
      AC021079, AK289792, X14766
      Consensus CDS
      CCDS4357.1
      UniProtKB/Swiss-Prot
      D3DQK6, P14867, Q8N629
      UniProtKB/TrEMBL
      A8K177
      Related
      ENSP00000023897.6, ENST00000023897.10
      Conserved Domains (2) summary
      TIGR00860
      Location:14 → 442
      LIC; Cation transporter family protein
      cd19034
      Location:56 → 249
      LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)

    2. NM_001127643.2 → NP_001121115.1  gamma-aminobutyric acid receptor subunit alpha-1 precursor

      See identical proteins and their annotated locations for NP_001121115.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same protein.
      Source sequence(s)
      AC021079, DA228536, DB487114, R60404, X13584, X14766
      Consensus CDS
      CCDS4357.1
      UniProtKB/Swiss-Prot
      D3DQK6, P14867, Q8N629
      UniProtKB/TrEMBL
      A8K177
      Related
      ENSP00000393097.2, ENST00000428797.7
      Conserved Domains (2) summary
      TIGR00860
      Location:14 → 442
      LIC; Cation transporter family protein
      cd19034
      Location:56 → 249
      LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)

    3. NM_001127644.2 → NP_001121116.1  gamma-aminobutyric acid receptor subunit alpha-1 precursor

      See identical proteins and their annotated locations for NP_001121116.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same protein.
      Source sequence(s)
      AC021079, DA075784, DA228536, R60404, X14766
      Consensus CDS
      CCDS4357.1
      UniProtKB/Swiss-Prot
      D3DQK6, P14867, Q8N629
      UniProtKB/TrEMBL
      A8K177
      Related
      ENSP00000377517.4, ENST00000393943.10
      Conserved Domains (2) summary
      TIGR00860
      Location:14 → 442
      LIC; Cation transporter family protein
      cd19034
      Location:56 → 249
      LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)

    4. NM_001127645.2 → NP_001121117.1  gamma-aminobutyric acid receptor subunit alpha-1 precursor

      See identical proteins and their annotated locations for NP_001121117.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same protein.
      Source sequence(s)
      AC021079, BC030696, DC307259
      Consensus CDS
      CCDS4357.1
      UniProtKB/Swiss-Prot
      D3DQK6, P14867, Q8N629
      UniProtKB/TrEMBL
      A8K177
      Related
      ENSP00000415441.2, ENST00000437025.6
      Conserved Domains (2) summary
      TIGR00860
      Location:14 → 442
      LIC; Cation transporter family protein
      cd19034
      Location:56 → 249
      LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)

    5. NM_001127648.2 → NP_001121120.1  gamma-aminobutyric acid receptor subunit alpha-1 precursor

      See identical proteins and their annotated locations for NP_001121120.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same protein.
      Source sequence(s)
      AC021079, DA232066, DC334834, X14766
      Consensus CDS
      CCDS4357.1
      UniProtKB/Swiss-Prot
      D3DQK6, P14867, Q8N629
      UniProtKB/TrEMBL
      A8K177
      Related
      ENSP00000490320.1, ENST00000636573.1
      Conserved Domains (2) summary
      TIGR00860
      Location:14 → 442
      LIC; Cation transporter family protein
      cd19034
      Location:56 → 249
      LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      161847191..161899971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      162376027..162428794
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001127646.1: Suppressed sequence

      Description
      NM_001127646.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript

    2. NM_001127647.1: Suppressed sequence

      Description
      NM_001127647.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P14867.3 GenPept UniProtKB/Swiss-Prot:P14867

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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