Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) Homo sapiens
Analyze
Symbol: GABRA1
Name: gamma-aminobutyric acid type A receptor subunit alpha1
Description: Exhibits GABA-gated chloride ion channel activity. Predicted to contribute to GABA-A receptor activity and benzodiazepine receptor activity. Involved in chloride transmembrane transport and inhibitory synapse assembly. Localizes to GABA-A receptor complex. Implicated in early infantile epileptic encephalopathy 19 and idiopathic generalized epilepsy 13.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ECA4; EIEE19; EJM; EJM5; GABA(A) receptor subunit alpha-1; GABA(A) receptor, alpha 1; gamma-aminobutyric acid (GABA) A receptor, alpha 1; gamma-aminobutyric acid receptor subunit alpha-1; gamma-aminobutyric acid type A receptor alpha1 subunit
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl5161,847,063 - 161,899,981 (+)EnsemblGRCh38hg38GRCh38
GRCh385161,847,191 - 161,899,971 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh375161,274,197 - 161,326,965 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365161,206,983 - 161,258,992 (+)NCBINCBI36hg18NCBI36
Build 345161,206,982 - 161,258,990NCBI
Celera5157,305,487 - 157,357,959 (+)NCBI
Cytogenetic Map5q34NCBI
HuRef5156,366,532 - 156,419,379 (+)NCBIHuRef
CHM1_15160,706,630 - 160,759,375 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on GABRA1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 730902
Created: 2003-12-10
Species: Homo sapiens
Last Modified: 2020-05-26
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.