ZFIN ID: ZDB-GENE-061013-194
Gene Name: gamma-aminobutyric acid type A receptor subunit alpha1
Gene Symbol: gabra1    Nomenclature History

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Previous Name: zgc:153566 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 21 Mapping Details/Browsers
Description: Contributes to GABA-gated chloride ion channel activity. Involved in protein heterotrimerization. Predicted to localize to several cellular components, including GABA-A receptor complex; dendrite membrane; and postsynapse. Is expressed in nervous system. Used to study epilepsy with generalized tonic-clonic seizures. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 19 and idiopathic generalized epilepsy 13. Orthologous to human GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1).
Genome Resources: Alliance (1),  Gene:768183 (1),  Ensembl(GRCz11):ENSDARG00000068989 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la022038Tg Transgenic Insertion Unknown Unknown DNA
sa43718 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • udm103 Indel Unknown Unknown CRISPR
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-gabra1 1
    DISEASE ASSOCIATED WITH gabra1 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    early infantile epileptic encephalopathy 19 Alliance Epileptic encephalopathy, early infantile, 19 615744
    idiopathic generalized epilepsy 13 Alliance {Epilepsy, childhood absence, susceptibility to, 4} 611136
    {Epilepsy, juvenile myoclonic, susceptibility to, 5} 611136
    DISEASE ASSOCIATED WITH gabra1 VIA EXPERIMENTAL MODELS
    Human Disease Fish Conditions Citations
    epilepsy with generalized tonic-clonic seizures gabra1udm103/udm103 standard conditions Samarut et al., 2018
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process protein heterotrimerization (more)
    Cellular Component integral component of membrane (more)
    Molecular Function CONTRIBUTES_TO   GABA-gated chloride ion channel activity (more)
    GO Terms (all 31)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA gabra1-202 (1)    Ensembl 1077
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-gabra1 polyclonal IgG Goat IHC, WB Santa Cruz Biotechnology, Inc.
    2
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM gabra1 No data available
    MARKER RELATIONSHIPS
    gabra1 Contained in: [BAC] CH211-145N14 (1)
    gabra1 Encodes: [cDNA] MGC:153566 (1), MGC:191715 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001077326 (1) 2332 nt
    Genomic GenBank:CR847531 (1) 150363 nt
    Select Tool
    Polypeptide UniProtKB:Q08BJ3 (1) 459 aa
    Sequence Information (all 24)
    ORTHOLOGY for gabra1 ( Chr: 21 )
    CITATIONS (48)