Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gabra5provided by MGI
Official Full Name: gamma-aminobutyric acid type A receptor subunit alpha 5provided by MGI
Primary source: MGI:MGI:95617
See related: Ensembl:ENSMUSG00000055078 AllianceGenome:MGI:95617
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: A230018I05Rik
Summary: Enables GABA-A receptor activity and GABA-gated chloride ion channel activity. Involved in cochlea development; inner ear receptor cell development; and innervation. Acts upstream of or within associative learning and behavioral fear response. Located in cell body and dendrite. Is expressed in brain and palatal shelf. Human ortholog(s) of this gene implicated in bipolar disorder; depressive disorder; and developmental and epileptic encephalopathy 79. Orthologous to human GABRA5 (gamma-aminobutyric acid type A receptor subunit alpha5). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in CNS E18 (RPKM 18.3), frontal lobe adult (RPKM 16.8) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B5; 7 33.52 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (57057417..57240808, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (57407669..57591016, complement)

Chromosome 7 - NC_000073.7 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?

Gabra5 plays a sexually dimorphic role in POMC neuron activity and glucose balance.
Title: Gabra5 plays a sexually dimorphic role in POMC neuron activity and glucose balance.
MD2 contributes to the pathogenesis of perioperative neurocognitive disorder via the regulation of alpha5GABAA receptors in aged mice.
Title: MD2 contributes to the pathogenesis of perioperative neurocognitive disorder via the regulation of α5GABA(A) receptors in aged mice.
Reversal of Age-Related Neuronal Atrophy by alpha5-GABAA Receptor Positive Allosteric Modulation.
Title: Reversal of Age-Related Neuronal Atrophy by α5-GABAA Receptor Positive Allosteric Modulation.
Sex-dependent pronociceptive role of spinal alpha5 -GABAA receptor and its epigenetic regulation in neuropathic rodents.
Title: Sex-dependent pronociceptive role of spinal α(5) -GABA(A) receptor and its epigenetic regulation in neuropathic rodents.
in CA1 somatostatin-expressing interneurons, the alpha5-GABAAR subunit is targeted to synapses formed by the VIP- and calretinin-expressing inputs, and plays a specific role in the regulation of anxiety-like behavior
Title: Input-Specific Synaptic Location and Function of the α5 GABA(A) Receptor Subunit in the Mouse CA1 Hippocampal Neurons.
both total GABAA and GABAA alpha5 receptor availability in two positron emission tomography imaging studies, are reported.
Title: GABA(A) receptor availability is not altered in adults with autism spectrum disorder or in mouse models.
These results provide further evidence of the role of GABAA alpha5 receptor-mediated inhibition in cognitive impairment in the TS mouse model of Down syndrome.
Title: Decreasing the Expression of GABA(A) α5 Subunit-Containing Receptors Partially Improves Cognitive, Electrophysiological, and Morphological Hippocampal Defects in the Ts65Dn Model of Down Syndrome.
Nonlinear-rectifying alpha5-GABAARs with slow kinetics match functional NMDA-receptor properties and thereby mediate powerful control of dendritic postsynaptic integration and action potential firing by dendrite-targeting interneurons.
Title: Dendrite-targeting interneurons control synaptic NMDA-receptor activation via nonlinear α5-GABA(A) receptors.
findings support the hypothesis that reduced alpha5GABAAR activity contributes to an Autism Spectrum Disorder phenotype. The results also suggest that Gabra5-/- mice may serve as an animal model for ASD, as assessed through EEG activity and sleep-wake behaviors.
Title: Reduced expression of α5GABA(A) receptors elicits autism-like alterations in EEG patterns and sleep-wake behavior.
Deletion of Gabra5 in newborn granule cells caused severe alterations of migration and dendrite development.
Title: Partial inactivation of GABAA receptors containing the α5 subunit affects the development of adult-born dentate gyrus granule cells.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Variation

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Alleles

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

Endonuclease-mediated (6)
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW046005 (e-PCR)
- UniSTS:208133

14.MMHAP22FRE8.seq (e-PCR)
- UniSTS:123201

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GABA receptor binding	IEA Inferred from Electronic Annotation more info
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	IMP Inferred from Mutant Phenotype more info	PubMed
enables GABA-A receptor activity	ISO Inferred from Sequence Orthology more info
enables GABA-A receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables GABA-gated chloride ion channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables GABA-gated chloride ion channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables GABA-gated chloride ion channel activity	ISS Inferred from Sequence or Structural Similarity 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 ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	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
acts_upstream_of_or_within associative learning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within behavioral fear response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	ISO Inferred from Sequence Orthology more info
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in cochlea development	IMP Inferred from Mutant Phenotype more info	PubMed
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 inner ear receptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in innervation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of postsynaptic membrane potential	IBA Inferred from Biological aspect of Ancestor 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 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 GABA-A receptor complex	ISO Inferred from Sequence Orthology more info
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in GABA-ergic synapse	ISO Inferred from Sequence Orthology more info
located_in cell body	IDA Inferred from Direct Assay more info	PubMed
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	ISO Inferred from Sequence Orthology more info
is_active_in dendrite membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body membrane	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body membrane	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology 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
is_active_in postsynaptic membrane	ISO Inferred from Sequence Orthology more info
located_in postsynaptic specialization membrane	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic specialization membrane	ISO Inferred from Sequence Orthology more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in presynaptic membrane	ISO Inferred from Sequence Orthology more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: gamma-aminobutyric acid receptor subunit alpha-5

Names: GABA(A) receptor subunit alpha-5; GABAAR subunit alpha-5; gamma-aminobutyric acid (GABA) A receptor, subunit alpha 5; ligand-gated ion channel 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.

mRNA and Protein(s)

NM_001362161.1 → NP_001349090.1 gamma-aminobutyric acid receptor subunit alpha-5 precursor

Status: VALIDATED

Source sequence(s)

AK038476, AK083185

Consensus CDS

CCDS21322.1

UniProtKB/Swiss-Prot

Q8BHJ7

Related

ENSMUSP00000145685.2, ENSMUST00000206734.2

Conserved Domains (2) summary

TIGR00860
Location:15 → 449

LIC; Cation transporter family protein

cd19038
Location:58 → 256

LGIC_ECD_GABAAR_A5; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-5 (GABAAR-A5 or GABRA5)
NM_001362162.1 → NP_001349091.1 gamma-aminobutyric acid receptor subunit alpha-5 precursor

Status: VALIDATED

Source sequence(s)

AC102129, AC160553

Consensus CDS

CCDS21322.1

UniProtKB/Swiss-Prot

Q8BHJ7

Conserved Domains (2) summary

TIGR00860
Location:15 → 449

LIC; Cation transporter family protein

cd19038
Location:58 → 256

LGIC_ECD_GABAAR_A5; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-5 (GABAAR-A5 or GABRA5)
NM_176942.4 → NP_795916.1 gamma-aminobutyric acid receptor subunit alpha-5 precursor

See identical proteins and their annotated locations for NP_795916.1

Status: VALIDATED

Source sequence(s)

AC102129, AC160553

Consensus CDS

CCDS21322.1

UniProtKB/Swiss-Prot

Q8BHJ7

Related

ENSMUSP00000063276.7, ENSMUST00000068456.8

Conserved Domains (2) summary

TIGR00860
Location:15 → 449

LIC; Cation transporter family protein

cd19038
Location:58 → 256

LGIC_ECD_GABAAR_A5; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-5 (GABAAR-A5 or GABRA5)

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_000073.7 Reference GRCm39 C57BL/6J

Range

57057417..57240808 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030241988.2 → XP_030097848.1 gamma-aminobutyric acid receptor subunit alpha-5 isoform X1

UniProtKB/Swiss-Prot

Q8BHJ7

Conserved Domains (2) summary

TIGR00860
Location:15 → 449

LIC; Cation transporter family protein

cd19038
Location:58 → 256

LGIC_ECD_GABAAR_A5; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-5 (GABAAR-A5 or GABRA5)
XM_006540560.5 → XP_006540623.1 gamma-aminobutyric acid receptor subunit alpha-5 isoform X1

See identical proteins and their annotated locations for XP_006540623.1

UniProtKB/Swiss-Prot

Q8BHJ7

Conserved Domains (2) summary

TIGR00860
Location:15 → 449

LIC; Cation transporter family protein

cd19038
Location:58 → 256

LGIC_ECD_GABAAR_A5; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-5 (GABAAR-A5 or GABRA5)
XM_006540557.5 → XP_006540620.1 gamma-aminobutyric acid receptor subunit alpha-5 isoform X1

See identical proteins and their annotated locations for XP_006540620.1

UniProtKB/Swiss-Prot

Q8BHJ7

Conserved Domains (2) summary

TIGR00860
Location:15 → 449

LIC; Cation transporter family protein

cd19038
Location:58 → 256

LGIC_ECD_GABAAR_A5; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-5 (GABAAR-A5 or GABRA5)
XM_006540556.5 → XP_006540619.1 gamma-aminobutyric acid receptor subunit alpha-5 isoform X1

See identical proteins and their annotated locations for XP_006540619.1

UniProtKB/Swiss-Prot

Q8BHJ7

Related

ENSMUSP00000146238.2, ENSMUST00000206382.2

Conserved Domains (2) summary

TIGR00860
Location:15 → 449

LIC; Cation transporter family protein

cd19038
Location:58 → 256

LGIC_ECD_GABAAR_A5; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-5 (GABAAR-A5 or GABRA5)