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

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects.
Title: Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects.
MiRNA-384-5p Targets GABRB1 to Regulate Ketamine-Induced Neurotoxicity in Neurons.
Title: MiRNA-384-5p Targets GABRB1 to Regulate Ketamine-Induced Neurotoxicity in Neurons.
No allelic association was detected in this study between tested SNPs and risk for developing alcohol dependence in a British and Irish population; however, modest genotypic associations were found with several intronic GABRbeta1 SNPs that may directly influence alcohol dependence risk or may be in linkage disequilibrium with causal risk variants in nearby genes, including other GABA receptor subunits
Title: Genetic variation in GABRβ1 and the risk for developing alcohol dependence.
Results from genome-wide DNA methylation, functional network analysis and pyrosequencing, show selective CpG sites (NOS1AP, BID, and GABRB1) differentially methylated in smokers and chronic obstructive pulmonary disease patients compared to nonsmokers.
Title: DNA methylation profiling in peripheral lung tissues of smokers and patients with COPD.
PCDHB14- and GABRB1-like nervous system developmental genes are altered during early neuronal differentiation of NCCIT cells treated with ethanol
Title: PCDHB14- and GABRB1-like nervous system developmental genes are altered during early neuronal differentiation of NCCIT cells treated with ethanol.
This study showed that in male group the expression of GABRB1 was generally lower in schizophrenia cases compared to the control, but was higher in female group.
Title: Sex differences in GABAergic gene expression occur in the anterior cingulate cortex in schizophrenia.
Both mRNA and protein of GABAB receptor subunits, GABAB1 and GABAB2, were co-expressed in cultured human RPE cells; GABAB receptors regulate the [Ca2+]i via a pertussis toxin-sensitive Gi/o-protein pathway and a phospholipase C pathway
Title: GABAB1 and GABAB2 receptor subunits co-expressed in cultured human RPE cells regulate intracellular Ca2+ via Gi/o-protein and phospholipase C pathways.
study provides the first evidence for the involvement of the GABRB1 gene in the thalamus structure and their interactive effects on intelligence
Title: The GABRB1 gene is associated with thalamus volume and modulates the association between thalamus volume and intelligence.
This study demonstrates altered patterns of N-glycosylation of GABRB1 in the temporal lobe in schizophrenia.
Title: N-Glycosylation of GABAA receptor subunits is altered in Schizophrenia.
GABRB1 protein levels were significantly decreased in schizophrenia, major depressive disorder, and bipolar disorder patients' lateral cerebellum compared to controls.
Title: Expression of GABAA α2-, β1- and ε-receptors are altered significantly in the lateral cerebellum of subjects with schizophrenia, major depression and bipolar disorder.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-33334 (e-PCR)
- UniSTS:171032

WI-19172 (e-PCR)
- UniSTS:12599

SHGC-59554 (e-PCR)
- UniSTS:8763

D4S2534E (e-PCR)
- UniSTS:22849

SHGC4-68 (e-PCR)
- UniSTS:91472

SHGC4-879 (e-PCR)
- UniSTS:52826

D4S2781 (e-PCR)
- UniSTS:79717

G63030 (e-PCR)
- UniSTS:140155

SHGC-111368 (e-PCR)
- UniSTS:168333

G63235 (e-PCR)
- UniSTS:140206

D4S2867 (e-PCR)
- UniSTS:58562

SHGC-67259 (e-PCR)
- UniSTS:25043

G33951 (e-PCR)
- UniSTS:4326

M59215 (e-PCR)
- UniSTS:35052

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
enables GABA-A receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables GABA-A receptor activity	IDA Inferred from Direct Assay 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
enables ligand-gated monoatomic ion channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA Inferred from Direct Assay more info	PubMed
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS Non-traceable Author Statement more info	PubMed
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info

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 chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in gamma-aminobutyric acid signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in ovulation cycle	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info
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	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of GABA-A receptor complex	IBA Inferred from Biological aspect of Ancestor more info
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 dendrite	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope	IEA Inferred from Electronic Annotation more info
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

General protein information

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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

NG_051831.2 RefSeqGene

Range

42922..437802

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000812.4 → NP_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:9 → 472

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

46993647..47426447

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B4DEL7

Conserved Domains (1) summary

TIGR00860
Location:6 → 439

LIC; Cation transporter family protein
XM_024453976.2 → XP_024309744.1 gamma-aminobutyric acid receptor subunit beta-1 isoform X2

UniProtKB/TrEMBL

B4DEL7

Conserved Domains (1) summary

TIGR00860
Location:6 → 439

LIC; Cation transporter family protein
XM_017007986.3 → XP_016863475.1 gamma-aminobutyric acid receptor subunit beta-1 isoform X3
XM_017007985.2 → XP_016863474.1 gamma-aminobutyric acid receptor subunit beta-1 isoform X1