Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gabra1provided by MGI
Official Full Name: gamma-aminobutyric acid type A receptor subunit alpha 1provided by MGI
Primary source: MGI:MGI:95613
See related: Ensembl:ENSMUSG00000010803 AllianceGenome:MGI:95613
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: Gabra-1; GABAA-alpha1; GABAAR-alpha1
Summary: Enables transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential. Contributes to GABA-gated chloride ion channel activity. Involved in inhibitory synapse assembly and regulation of postsynaptic membrane potential. Located in GABA-ergic synapse and plasma membrane. Is expressed in alimentary system; central nervous system; and eye. Used to study idiopathic generalized epilepsy. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 19 and idiopathic generalized epilepsy 13. Orthologous to human GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 48.5), cortex adult (RPKM 36.1) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 A5; 11 24.97 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (42021766..42073893, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (42130939..42183066, complement)

Chromosome 11 - NC_000077.7 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?

Knockdown of SIK3 in the CA1 Region can Reduce Seizure Susceptibility in Mice by Inhibiting Decreases in GABAAR alpha1 Expression.
Title: Knockdown of SIK3 in the CA1 Region can Reduce Seizure Susceptibility in Mice by Inhibiting Decreases in GABA(A)R α1 Expression.
Pharmacological Analysis of GABAA Receptor and Sigma1R Chaperone Interaction: Research Report I-Investigation of the Anxiolytic, Anticonvulsant and Hypnotic Effects of Allosteric GABAA Receptors' Ligands.
Title: Pharmacological Analysis of GABA(A) Receptor and Sigma1R Chaperone Interaction: Research Report I-Investigation of the Anxiolytic, Anticonvulsant and Hypnotic Effects of Allosteric GABA(A) Receptors' Ligands.
GABAA Receptor-Mediated Sleep-Promoting Effect of Saaz-Saphir Hops Mixture Containing Xanthohumol and Humulone.
Title: GABA(A) Receptor-Mediated Sleep-Promoting Effect of Saaz-Saphir Hops Mixture Containing Xanthohumol and Humulone.
GABA-A receptor signaling in the anterior cingulate cortex modulates aggression and anxiety-related behaviors in socially isolated mice.
Title: GABA-A receptor signaling in the anterior cingulate cortex modulates aggression and anxiety-related behaviors in socially isolated mice.
Structural determinants and regulation of spontaneous activity in GABAA receptors.
Title: Structural determinants and regulation of spontaneous activity in GABA(A) receptors.
Selective loss of the GABAAalpha1 subunit from Purkinje cells is sufficient to induce a tremor phenotype.
Title: Selective loss of the GABA(Aα1) subunit from Purkinje cells is sufficient to induce a tremor phenotype.
Dynorphin and GABAA Receptor Signaling Contribute to Progesterone's Inhibition of the LH Surge in Female Mice.
Title: Dynorphin and GABAA Receptor Signaling Contribute to Progesterone's Inhibition of the LH Surge in Female Mice.
Identification of a Core Amino Acid Motif within the alpha Subunit of GABAARs that Promotes Inhibitory Synaptogenesis and Resilience to Seizures.
Title: Identification of a Core Amino Acid Motif within the α Subunit of GABA(A)Rs that Promotes Inhibitory Synaptogenesis and Resilience to Seizures.
This experiments show that loop F of the alpha-subunit governs the potency of GABA on alpha2 and alpha5-GABAA receptors in vitro as well as in vivo.
Title: Loop F of the GABA(A) receptor alpha subunit governs GABA potency.
This results of this study concluded that targeted deletion of Gabra1 causes moderate adaptations of GABAergic synapses in CA1 pyramidal cells
Title: Differential role of GABA(A) receptors and neuroligin 2 for perisomatic GABAergic synapse formation in the hippocampus.

Submit: New GeneRIF Correction See all GeneRIFs (64)

Variation

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Alleles

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

Targeted (15) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gabra1 (e-PCR), detects polymorphism
- UniSTS:525647

M63436 (e-PCR)
- UniSTS:163498

Gene Ontology Provided by MGI

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

Process	Evidence Code	Pubs
involved_in cellular response to histamine	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within chemical synaptic transmission, postsynaptic	IDA Inferred from Direct Assay more info	PubMed
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 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 gamma-aminobutyric acid signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in inhibitory synapse assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in inhibitory synapse assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in inhibitory synapse assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
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
acts_upstream_of_or_within regulation of postsynaptic membrane potential	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynaptic membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic transmission, GABAergic	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic transmission, GABAergic	ISO Inferred from Sequence Orthology more info
involved_in synaptic transmission, GABAergic	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of GABA receptor complex	ISO Inferred from Sequence Orthology more info
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
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	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	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynapse	IBA Inferred from Biological aspect of Ancestor 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 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 alpha-1

Names: GABA(A) receptor subunit alpha-1; GABAA alpha 1; GABAAR alpha1; gamma-aminobutyric acid (GABA) A receptor, subunit alpha 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_001359035.1 → NP_001345964.1 gamma-aminobutyric acid receptor subunit alpha-1 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AL645751, AL645752, BE945884

Consensus CDS

CCDS24553.1

UniProtKB/Swiss-Prot

P18504, P62812

UniProtKB/TrEMBL

Q3URD4, Q544F7

Related

ENSMUSP00000146133.2, ENSMUST00000205546.2

Conserved Domains (2) summary

TIGR00860
Location:7 → 441

LIC; Cation transporter family protein

cd19034
Location:55 → 248

LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)
NM_010250.5 → NP_034380.1 gamma-aminobutyric acid receptor subunit alpha-1 precursor

See identical proteins and their annotated locations for NP_034380.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AK034095, AK141596, BC137733, BE945884

Consensus CDS

CCDS24553.1

UniProtKB/Swiss-Prot

P18504, P62812

UniProtKB/TrEMBL

Q3URD4, Q544F7

Related

ENSMUSP00000020707.6, ENSMUST00000020707.12

Conserved Domains (2) summary

TIGR00860
Location:7 → 441

LIC; Cation transporter family protein

cd19034
Location:55 → 248

LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)

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_000077.7 Reference GRCm39 C57BL/6J

Range

42021766..42073893 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017314259.1 → XP_017169748.1 gamma-aminobutyric acid receptor subunit alpha-1 isoform X2

UniProtKB/Swiss-Prot

P18504, P62812

UniProtKB/TrEMBL

Q3URD4, Q544F7

Conserved Domains (2) summary

TIGR00860
Location:7 → 441

LIC; Cation transporter family protein

cd19034
Location:55 → 248

LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)
XM_006532195.5 → XP_006532258.1 gamma-aminobutyric acid receptor subunit alpha-1 isoform X1

UniProtKB/TrEMBL

Q3URD4

Conserved Domains (2) summary

TIGR00860
Location:105 → 539

LIC; Cation transporter family protein

cd19034
Location:153 → 346

LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)