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GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 [ Homo sapiens (human) ]

Gene ID: 2560, updated on 4-Jan-2025

Summary

Official Symbol
GABRB1provided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor subunit beta1provided by HGNC
Primary source
HGNC:HGNC:4081
See related
Ensembl:ENSG00000163288 MIM:137190; AllianceGenome:HGNC:4081
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DEE45; EIEE45
Summary
The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 8.6) and heart (RPKM 0.4) See more
Orthologs
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Genomic context

See GABRB1 in Genome Data Viewer
Location:
4p12
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (46993647..47426447)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (46998964..47393806)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (47033584..47428464)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit 7B2 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:46889421-46889608 Neighboring gene Sharpr-MPRA regulatory region 10756 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha4 Neighboring gene Sharpr-MPRA regulatory region 8016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21529 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:47379937-47380444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15398 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:47416165-47416745 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:47432124-47432333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15399 Neighboring gene uncharacterized LOC107986277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21530 Neighboring gene COMM domain containing 8

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 45
MedGen: C4310691 OMIM: 617153 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential  
enables GABA receptor binding  
enables GABA-A receptor activity  
enables GABA-A receptor activity PubMed 
enables GABA-A receptor activity  
enables GABA-gated chloride ion channel activity PubMed 
enables GABA-gated chloride ion channel activity PubMed 
contributes_to chloride channel activity  
enables ligand-gated monoatomic ion channel activity  
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential PubMed 
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential PubMed 
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential PubMed 
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential  
Process Evidence Code Pubs
involved_in cellular response to histamine  
involved_in central nervous system neuron development  
involved_in chloride transmembrane transport  
involved_in chloride transmembrane transport PubMed 
involved_in gamma-aminobutyric acid signaling pathway PubMed 
involved_in monoatomic ion transport  
involved_in ovulation cycle  
involved_in regulation of postsynaptic membrane potential  
involved_in regulation of presynaptic membrane potential  
involved_in response to progesterone  
involved_in response to toxic substance  
involved_in signal transduction PubMed 
Component Evidence Code Pubs
part_of GABA-A receptor complex  
part_of GABA-A receptor complex PubMed 
part_of GABA-A receptor complex  
located_in GABA-ergic synapse  
located_in Schaffer collateral - CA1 synapse  
part_of chloride channel complex  
located_in dendrite  
located_in nuclear envelope  
located_in plasma membrane PubMed 
located_in plasma membrane  
located_in plasma membrane  
located_in postsynaptic specialization membrane  
located_in presynaptic active zone membrane  

General protein information

Preferred Names
gamma-aminobutyric acid receptor subunit beta-1
Names
GABAAR subunit beta-1
gamma-aminobutyric acid (GABA) A receptor, beta 1
gamma-aminobutyric acid type A receptor beta1 subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051831.2 RefSeqGene

    Range
    42922..437802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000812.4NP_000803.2  gamma-aminobutyric acid receptor subunit beta-1 precursor

    See identical proteins and their annotated locations for NP_000803.2

    Status: REVIEWED

    Source sequence(s)
    AC097712, AC105394, AC107392
    Consensus CDS
    CCDS3474.1
    UniProtKB/Swiss-Prot
    B2R6U7, D6REL3, P18505, Q16166, Q8TBK3
    UniProtKB/TrEMBL
    B4DEL7, X5DNL6
    Related
    ENSP00000295454.3, ENST00000295454.8
    Conserved Domains (1) summary
    TIGR00860
    Location:9472
    LIC; Cation transporter family protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    46993647..47426447
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453977.2XP_024309745.1  gamma-aminobutyric acid receptor subunit beta-1 isoform X2

    UniProtKB/TrEMBL
    B4DEL7
    Conserved Domains (1) summary
    TIGR00860
    Location:6439
    LIC; Cation transporter family protein
  2. XM_024453976.2XP_024309744.1  gamma-aminobutyric acid receptor subunit beta-1 isoform X2

    UniProtKB/TrEMBL
    B4DEL7
    Conserved Domains (1) summary
    TIGR00860
    Location:6439
    LIC; Cation transporter family protein
  3. XM_017007986.3XP_016863475.1  gamma-aminobutyric acid receptor subunit beta-1 isoform X3

  4. XM_017007985.2XP_016863474.1  gamma-aminobutyric acid receptor subunit beta-1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    46998964..47393806
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349558.1XP_054205533.1  gamma-aminobutyric acid receptor subunit beta-1 isoform X1

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