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Gene: GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1) Homo sapiens
Symbol: GABRB1
Name: gamma-aminobutyric acid type A receptor subunit beta1
CRRD ID: 731063
Description: Exhibits GABA-gated chloride ion channel activity. Predicted to contribute to GABA-A receptor activity and chloride channel activity. Involved in chloride transmembrane transport and gamma-aminobutyric acid signaling pathway. Localizes to GABA-A receptor complex and plasma membrane. Implicated in autistic disorder and early infantile epileptic encephalopathy 45. Biomarker of autistic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: EIEE45; GABA(A) receptor subunit beta-1; GABA(A) receptor, beta 1; gamma-aminobutyric acid (GABA) A receptor, beta 1; gamma-aminobutyric acid A receptor beta 1; gamma-aminobutyric acid receptor subunit beta-1; gamma-aminobutyric acid type A receptor beta1 subunit
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl446,993,723 - 47,426,447 (+)EnsemblGRCh38hg38GRCh38
GRCh38446,993,560 - 47,438,409 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37447,033,295 - 47,432,801 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36446,728,336 - 47,123,202 (+)NCBINCBI36hg18NCBI36
Build 34446,874,506 - 47,269,373NCBI
Celera447,482,542 - 47,877,035 (+)NCBI
Cytogenetic Map4p12NCBI
HuRef446,352,751 - 46,747,922 (+)NCBIHuRef
CHM1_1447,032,490 - 47,427,496 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

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


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on GABRB1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 731063
Created: 2003-12-10
Species: Homo sapiens
Last Modified: 2020-09-16
Status: ACTIVE


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