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

Gene ID: 2560, updated on 22-Sep-2022

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
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (46993647..47426447)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (46998964..47393806)
105.20220307 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 Sharpr-MPRA regulatory region 10756 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha4 Neighboring gene Sharpr-MPRA regulatory region 8016 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC107986277 Neighboring gene COMM domain containing 8

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
enables GABA receptor binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to GABA-A receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GABA-A receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables GABA-gated chloride ion channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables GABA-gated chloride ion channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables excitatory extracellular ligand-gated ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ligand-gated ion channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables ligand-gated ion channel activity involved in regulation of presynaptic membrane potential IDA
Inferred from Direct Assay
more info
PubMed 
enables ligand-gated ion channel activity involved in regulation of presynaptic membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables ligand-gated ion channel activity involved in regulation of presynaptic membrane potential NAS
Non-traceable Author Statement
more info
PubMed 
enables neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to histamine ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in central nervous system neuron development IEA
Inferred from Electronic Annotation
more info
 
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chloride transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
involved_in gamma-aminobutyric acid signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ovulation cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of presynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
involved_in response to progesterone IEA
Inferred from Electronic Annotation
more info
 
involved_in response to toxic substance IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of GABA-A receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of GABA-A receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in dendrite IEA
Inferred from Electronic Annotation
more info
 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nuclear envelope IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
located_in presynaptic active zone membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
gamma-aminobutyric acid receptor subunit beta-1
Names
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
    P18505, Q8TBK3
    UniProtKB/TrEMBL
    X5DNL6
    Related
    ENSP00000295454.3, ENST00000295454.8
    Conserved Domains (1) summary
    TIGR00860
    Location:9472
    LIC; Cation transporter family protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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 X1

    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 X1

    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 X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

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