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Gabra1
Gene Detail
 Symbol
Name
ID
Gabra1
gamma-aminobutyric acid (GABA) A receptor, subunit alpha 1
MGI:95613
Synonyms GABAA alpha 1, GABAAR alpha1, Gabra-1
Feature Type protein coding gene
Genetic Map
Chromosome 11
24.97 cM
Detailed Genetic Map ± 1 cM


Mapping data(30)
Sequence Map
Chr11:42130939-42182930 bp, - strand
From VEGA annotation of GRCm38

  51992 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:629  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Gabra1

Human
homologs
Human Homolog GABRA1, gamma-aminobutyric acid (GABA) A receptor, alpha 1
NCBI Gene ID 2554
neXtProt AC  NX_P14867
Human Synonyms  ECA4, EIEE19, EJM, EJM5
Human Chr (Location)  5q34; chr5:161847191-161899959 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human GABRA1
Mutations,
alleles, and
phenotypes
All mutations/alleles(17) : Targeted(17)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for knockout alleles or ones with various nucleotide substitutions exhibit altered life span, abnormal response to benzodiazepines and imidazopyridines, abnormal behaviors and abnormal synaptic transmission.
 
Human Diseases Modeled Using Mouse Gabra1 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Gabra1 interacts with 390 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (26 annotations)
Process cellular response to histamine, chloride transport, ...
Component cell junction, chloride channel complex, ...
Function chloride channel activity, drug binding, ...
External Resources: FuncBase
Expression
Literature Summary: (12 records)
Data Summary: Results (87)    Tissues (55)    Images (29)
Theiler Stages: 19, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
RNA in situ 77
Western blot 1
RT-PCR 9
cDNA source data(13)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(16) cDNA(14) Primer pair(1) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000005445 (Evidence)
Ensembl Gene ModelENSMUSG00000010803 (Evidence)
Entrez Gene14394 (Evidence)
DFCITC1579083, TC1670034
DoTSDT.110510038, DT.40139829
NIA Mouse Gene IndexU032672
Consensus CDS ProjectCCDS24553.1
International Mouse Knockout Project StatusGabra1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005445 VEGA Gene Model | MGI Sequence Detail 51992 C57BL/6J ±  kb
transcript OTTMUST00000012129 VEGA | MGI Sequence Detail 4688 Not Applicable 
polypeptide OTTMUSP00000005606 VEGA | MGI Sequence Detail 455 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(6) UniProt(5)
Polymorphisms RFLP(6) : SNPs within 2kb(354 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006028 Gamma-aminobutyric acid A receptor
InterPro IPR005431 Gamma-aminobutyric-acid A receptor, alpha 1 subunit
InterPro IPR001390 Gamma-aminobutyric-acid A receptor, alpha subunit
InterPro IPR006201 Neurotransmitter-gated ion-channel
InterPro IPR018000 Neurotransmitter-gated ion-channel, conserved site
InterPro IPR006202 Neurotransmitter-gated ion-channel ligand-binding
InterPro IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
Protein Ontology PR:000007766 gamma-aminobutyric acid receptor subunit alpha-1
References (Earliest) J:23686 Buckle VJ, et al., Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease. Neuron. 1989 Nov;3(5):647-54
(Latest) J:211088 Pribiag H, et al., Dystroglycan mediates homeostatic synaptic plasticity at GABAergic synapses. Proc Natl Acad Sci U S A. 2014 May 6;111(18):6810-5
All references(142)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-9922, MGD-MRK-9927

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory