Gabrb1 gamma-aminobutyric acid type A receptor subunit beta 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gabrb1provided by MGI
Official Full Name: gamma-aminobutyric acid type A receptor subunit beta 1provided by MGI
Primary source: MGI:MGI:95619
See related: Ensembl:ENSMUSG00000029212 AllianceGenome:MGI:95619
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gabrb-1; B230208N19Rik
Summary: Predicted to enable GABA receptor binding activity; GABA-gated chloride ion channel activity; and transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential. Predicted to contribute to GABA-A receptor activity and chloride channel activity. Predicted to be involved in several processes, including cellular response to histamine; chloride transmembrane transport; and gamma-aminobutyric acid signaling pathway. Predicted to act upstream of or within chloride transport. Predicted to be located in several cellular components, including dendrite; nuclear envelope; and plasma membrane. Predicted to be part of GABA-A receptor complex. Predicted to be active in neuron projection and synapse. Predicted to be integral component of plasma membrane. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in autistic disorder and developmental and epileptic encephalopathy 45. Orthologous to human GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cortex adult (RPKM 5.1), frontal lobe adult (RPKM 4.7) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 C3.2; 5 38.18 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (71815264..72306915)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (71657921..72149572)

Chromosome 5 - NC_000071.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GABAA receptor beta1 -subunit knock-out mice show increased delta power in NREM sleep and decreased theta power in REM sleep.
Title: GABA(A) receptor β(1) -subunit knock-out mice show increased delta power in NREM sleep and decreased theta power in REM sleep.
In inhibitory transmission onto hippocampal CA1 pyramidal cells, deletion of all beta subunits 1, 2, and 3 completely eliminated inhibitory responses. In addition, only knockout of beta3, alone or in combination with another beta subunit, impaired inhibitory synaptic transmission. expression of beta3 alone on the background of the beta1-3 subunit knockout was sufficient to restore synaptic and extrasynaptic inhibitory ...
Title: The GABA(A) Receptor β Subunit Is Required for Inhibitory Transmission.
Results indicate that GABAB1a and GABAB1b isoforms differentially regulate behavioural responses to cocaine, with deletion of GABAB1a enhancing cocaine-induced locomotor activity and deletion of GABAB1b protecting from cocaine-induced sensitisation
Title: Differential roles of GABAB1 subunit isoforms on locomotor responses to acute and repeated administration of cocaine.
Study of GABAB1 KO mice provides genetic evidence for a specific involvement of GABAB receptors in the regulation of the behavioral and biochemical effects induced by nicotine withdrawal in mice
Title: Lack of GABAB receptors modifies behavioural and biochemical alterations induced by precipitated nicotine withdrawal.
Heritable preference for ethanol results from a dominant mutation L285R; P228H also causes high ethanol consumption
Title: Mutations in the Gabrb1 gene promote alcohol consumption through increased tonic inhibition.
we conclude that is a greater contribution of beta(1) -subunit-containing GABA(A) receptors following oxygen and glucose deprivation in cerebellar Purkinje cells
Title: Alterations in Purkinje cell GABAA receptor pharmacology following oxygen and glucose deprivation and cerebral ischemia reveal novel contribution of β1 -subunit-containing receptors.
GABA(B)R1 positively regulates chondrogenesis through a mechanism relevant to the acceleration of nuclear translocation of ATF4 for Ihh expression in chondrocytes
Title: Positive regulation by γ-aminobutyric acid B receptor subunit-1 of chondrogenesis through acceleration of nuclear translocation of activating transcription factor-4.
This study demonistrated that Gabeb1 gene expression in mouse dorsal raphe nucleus
Title: Patterned expression of ion channel genes in mouse dorsal raphe nucleus determined with the Allen Mouse Brain Atlas.
The endogenous sleep pathway in the hypothalamus operates through the beta1- containing GABAAR whereas inhibition of neuronal firing (anaesthesia) by low propofol doses relies on beta3- containing GABAAR.
Title: GABAA receptors involved in sleep and anaesthesia: β1- versus β3-containing assemblies.
beta1-containing GABA(A)Rs are expressed in the hypothalamus
Title: Fragrant dioxane derivatives identify beta1-subunit-containing GABAA receptors.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1) 1 citation
Targeted (3) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MHAa52c10.seq (e-PCR)
- UniSTS:125186

RH126116 (e-PCR)
- UniSTS:162828

U14418 (e-PCR)
- UniSTS:185621

Gabrb1 (e-PCR), detects polymorphism
- UniSTS:506915

Gabrb1 (e-PCR), detects polymorphism
- UniSTS:143152

RH109435 (e-PCR)
- UniSTS:116813

Gabrb1 (e-PCR), detects polymorphism
- UniSTS:525651

D5Buc46 (e-PCR), detects polymorphism
- UniSTS:166274

D5Buc28 (e-PCR), detects polymorphism
- UniSTS:142519

D5Buc32 (e-PCR), detects polymorphism
- UniSTS:142523

D5Buc33 (e-PCR), detects polymorphism
- UniSTS:142524

D5Buc34 (e-PCR), detects polymorphism
- UniSTS:142526

D5Buc35 (e-PCR), detects polymorphism
- UniSTS:142527

D5Buc37 (e-PCR), detects polymorphism
- UniSTS:142529

D5Buc38 (e-PCR), detects polymorphism
- UniSTS:142530

D5Mit355 (e-PCR), detects polymorphism
- UniSTS:130507

AW061132 (e-PCR)
- UniSTS:179172

U14418 (e-PCR)
- UniSTS:125681

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential	EXP Inferred from Experiment more info	PubMed
enables G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential	IDA Inferred from Direct Assay more info	PubMed
enables G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
enables GABA receptor binding	ISO Inferred from Sequence Orthology more info
enables GABA-A receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables GABA-A receptor activity	ISO Inferred from Sequence Orthology more info
enables GABA-gated chloride ion channel activity	ISO Inferred from Sequence Orthology more info
contributes_to chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular ligand-gated monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables ligand-gated monoatomic ion channel activity	ISO Inferred from Sequence Orthology more info
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	ISO Inferred from Sequence Orthology more info
enables monoatomic anion channel activity	ISO Inferred from Sequence Orthology more info
enables monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables neurotransmitter receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane signaling receptor activity	IEA Inferred from Electronic Annotation more info
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cellular response to histamine	ISO Inferred from Sequence Orthology more info
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within chloride transport	IEA Inferred from Electronic Annotation more info
involved_in gamma-aminobutyric acid signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to toxic substance	ISO Inferred from Sequence Orthology more info

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	ISO Inferred from Sequence Orthology more info
is_active_in GABA-ergic synapse	EXP Inferred from Experiment more info	PubMed
is_active_in GABA-ergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in GABA-ergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in GABA-ergic synapse	ISO Inferred from Sequence Orthology more info
is_active_in Schaffer collateral - CA1 synapse	EXP Inferred from Experiment more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IMP Inferred from Mutant Phenotype more info	PubMed
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic specialization membrane	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic active zone membrane	ISO Inferred from Sequence Orthology more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
part_of transmembrane transporter complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: gamma-aminobutyric acid receptor subunit beta-1

Names: GABA(A) receptor subunit beta-1; gamma-aminobutyric acid (GABA) A receptor, subunit beta 1

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.

mRNA and Protein(s)

NM_001370968.1 → NP_001357897.1 gamma-aminobutyric acid receptor subunit beta-1 isoform 2

Status: VALIDATED

Source sequence(s)

AC101688, AC114826, AC122915, AC163437

Conserved Domains (1) summary

TIGR00860
Location:6 → 439

LIC; Cation transporter family protein
NM_008069.5 → NP_032095.1 gamma-aminobutyric acid receptor subunit beta-1 isoform 1 precursor

See identical proteins and their annotated locations for NP_032095.1

Status: VALIDATED

Source sequence(s)

AC101688, AC114826, AC122915

Consensus CDS

CCDS19329.1

UniProtKB/Swiss-Prot

P50571

UniProtKB/TrEMBL

Q53WT3

Related

ENSMUSP00000031122.8, ENSMUST00000031122.9

Conserved Domains (1) summary

TIGR00860
Location:9 → 472

LIC; Cation transporter family protein