Gabra1
Gene Detail

Symbol Name ID

Gabra1 gamma-aminobutyric acid (GABA) A receptor, subunit alpha 1 MGI:95613

Synonyms

GABAA alpha 1, 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 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, EJM, EJM5
Human Chr (Location)		5q34; chr5:161274197-161326965 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human GABRA1

Alleles and phenotypes

All alleles(15) : Targeted(15)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (27 annotations)

Process	chloride transport, gamma-aminobutyric acid signaling pathway, ...
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 (54)    Images (29)
Theiler Stages: 19, 22, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	77
Western blot	1
RT-PCR	9

cDNA source data(13)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(16) cDNA(14) Primer pair(1) Other(1)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000005445 (Evidence)
Ensembl Gene Model	ENSMUSG00000010803 (Evidence)
Entrez Gene	14394 (Evidence)
DFCI	TC1579083, TC1670034
DoTS	DT.110510038, DT.40139829
NIA Mouse Gene Index	U032672
Consensus CDS Project	CCDS24553.1
International Mouse Knockout Project Status	Gabra1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000005445	VEGA Gene Model | MGI Sequence Detail	51992	C57BL/6J
transcript	OTTMUST00000012129	VEGA | MGI Sequence Detail	4688	Not Applicable
polypeptide	OTTMUSP00000005606	VEGA | MGI Sequence Detail	455	Not Applicable

All sequences(41) RefSeq(2) UniProt(5)

Polymorphisms

RFLP(6) : SNPs(161 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:191676 Manceau V, et al., The protein kinase KIS impacts gene expression during development and fear conditioning in adult mice. PLoS One. 2012;7(8):e43946
All references(134)

Other accession IDs

MGD-MRK-9922, MGD-MRK-9927