Gabrg1 gamma-aminobutyric acid type A receptor subunit gamma 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gabrg1provided by MGI
Official Full Name: gamma-aminobutyric acid type A receptor subunit gamma 1provided by MGI
Primary source: MGI:MGI:103156
See related: Ensembl:ENSMUSG00000001260 AllianceGenome:MGI:103156
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: GabaA; GabaA/BZ
Summary: Predicted to enable GABA receptor binding activity and extracellular ligand-gated ion channel activity. Predicted to contribute to GABA-A receptor activity; benzodiazepine receptor activity; and chloride channel activity. Acts upstream of or within chemical synaptic transmission. Predicted to be located in plasma membrane. Predicted to be part of GABA-A receptor complex. Predicted to be active in dendrite membrane and postsynapse. Predicted to be integral component of plasma membrane. Is expressed in central nervous system and eye. Used to study trigeminal neuralgia. Orthologous to human GABRG1 (gamma-aminobutyric acid type A receptor subunit gamma1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in CNS E18 (RPKM 1.7), frontal lobe adult (RPKM 1.3) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 C3.1; 5 37.43 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (70906512..70999960, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (70751047..70842617, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Structural basis of GABARAP-mediated GABAA receptor trafficking and functions on GABAergic synaptic transmission.
Title: Structural basis of GABARAP-mediated GABA(A) receptor trafficking and functions on GABAergic synaptic transmission.
Our data indicate that the GABAA Receptors activation within colon mucosa disrupts the intestinal barrier and increases the intestinal permeability which facilitates inflammatory reaction in colon.
Title: Activation of GABA(A) Receptors in Colon Epithelium Exacerbates Acute Colitis.
it is concluded that the anxiolytic-like activities of rubimetide and typical agonist peptides of the FPR2 were mediated successively by the PGD2-DP1 receptor, adenosine-A2A receptor, and GABA-GABAA receptor systems downstream of the FPR2.
Title: Rubimetide, humanin, and MMK1 exert anxiolytic-like activities via the formyl peptide receptor 2 in mice followed by the successive activation of DP1, A2A, and GABAA receptors.
A single nucleotide polymorphism (SNP) at the nucleotide position 462 (C/G) in the b1 sequence of the GABAA reseptor was found. This SNP was observed in 5 mice from the sensitive strain and in 36 mice from the resistant strain. The Fischer exact test was used to compare two strains of mice for SNP in the cDNA sequence of the b1 subunit
Title: A single nucleotide polymorphism in GABAA receptor isoforms is potentially responsible for isoflurane sensitivity in mice.
This study demonstrated that chronic GABAAalpha1 deficiency remodels cortical synapses and suggest that neuroplasticity within the healthy oPFC gates the influence of reward-related contextual stimuli.
Title: GABAAα1-mediated plasticity in the orbitofrontal cortex regulates context-dependent action selection.
Hypnotic activity of melatonin may be mediated through picrotoxin site on GABAA receptor.
Title: [The role of melatonin receptor and GABAA receptor in the sleeping time prolonged by melatonin in mice].
deficits in GABAergic inhibition cause behavioral and endocrine abnormalities and selective antidepressant drug responsiveness indicative of anxious-depressive disorders such as melancholic depression.
Title: gamma-Aminobutyric acid-type A receptor deficits cause hypothalamic-pituitary-adrenal axis hyperactivity and antidepressant drug sensitivity reminiscent of melancholic forms of depression.
A mutated axJ gene locus, encoding the ubiquitin-specific protease 14 (Usp14), negatively influences GABAA receptor turnover.
Title: The ataxia (axJ) mutation causes abnormal GABAA receptor turnover in mice.
Prostaglandin E2 attenuates preoptic expression of GABAA receptors via EP3 receptors
Title: Prostaglandin E2 attenuates preoptic expression of GABAA receptors via EP3 receptors.

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Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gabrg1 (e-PCR), detects polymorphism
- UniSTS:143153

Gabrg1 (e-PCR), detects polymorphism
- UniSTS:143154

Gabrg1 (e-PCR), detects polymorphism
- UniSTS:525654

D5Buc9 (e-PCR), detects polymorphism
- UniSTS:142534

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GABA receptor binding	ISO Inferred from Sequence Orthology more info
contributes_to 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	IBA Inferred from Biological aspect of Ancestor more info
contributes_to benzodiazepine receptor activity	IBA Inferred from Biological aspect of Ancestor 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 monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables transmembrane signaling receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chloride transport	IEA Inferred from Electronic Annotation more info
involved_in chloride transport	IEA Inferred from Electronic Annotation more info
involved_in gamma-aminobutyric acid signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in inhibitory synapse assembly	IBA Inferred from Biological aspect of Ancestor 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
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic membrane potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic transmission, GABAergic	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of GABA-A receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
is_active_in dendrite membrane	IBA Inferred from Biological aspect of Ancestor 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
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
is_active_in postsynapse	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation 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
located_in synapse	IDA Inferred from Direct Assay more info	PubMed
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 gamma-1

Names: GABA(A) receptor subunit gamma-1; gamma-aminobutyric acid (GABA) A receptor, subunit gamma 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_001417485.1 → NP_001404414.1 gamma-aminobutyric acid receptor subunit gamma-1 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AC068252

Related

ENSMUST00000197068.5
NM_001417486.1 → NP_001404415.1 gamma-aminobutyric acid receptor subunit gamma-1 isoform 3 precursor

Status: VALIDATED

Source sequence(s)

AC068252, AC092716
NM_001417487.1 → NP_001404416.1 gamma-aminobutyric acid receptor subunit gamma-1 isoform 4 precursor

Status: VALIDATED

Source sequence(s)

AC068252, AC092716

Related

ENSMUSP00000142454.2, ENSMUST00000199705.2
NM_001417488.1 → NP_001404417.1 gamma-aminobutyric acid receptor subunit gamma-1 isoform 5

Status: VALIDATED

Source sequence(s)

AC068252, AC092716
NM_010252.5 → NP_034382.2 gamma-aminobutyric acid receptor subunit gamma-1 isoform 1 precursor

See identical proteins and their annotated locations for NP_034382.2

Status: VALIDATED

Source sequence(s)

AC068252, AC092716

Consensus CDS

CCDS19326.1

UniProtKB/Swiss-Prot

Q8BHM6, Q9R0Y8

UniProtKB/TrEMBL

Q8CCT6

Related

ENSMUSP00000031119.2, ENSMUST00000031119.6

Conserved Domains (3) summary

TIGR00860
Location:66 → 462

LIC; Cation transporter family protein

pfam02931
Location:65 → 270

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:277 → 459

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RNA

NR_184456.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC068252, AC092716

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

70906512..70999960 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011240701.4 → XP_011239003.1 gamma-aminobutyric acid receptor subunit gamma-1 isoform X2

UniProtKB/TrEMBL

Q8CCT6

Conserved Domains (2) summary

cd19000
Location:88 → 269

LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma

cd19054
Location:272 → 357

LGIC_TM_GABAAR_gamma; transmembrane domain of gamma subunits of type-A gamma-aminobutyric acid receptor (GABAAR)