GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GABRA5provided by HGNC
Official Full Name: gamma-aminobutyric acid type A receptor subunit alpha5provided by HGNC
Primary source: HGNC:HGNC:4079
See related: Ensembl:ENSG00000186297 MIM:137142; AllianceGenome:HGNC:4079
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: DEE79; EIEE79
Summary: GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward brain (RPKM 10.5) See more
Orthologs: mouse all
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Genomic context

Location:: 15q12

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (26866719..26949208)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (24607751..24690792)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (27111866..27194355)

Chromosome 15 - NC_000015.10 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?

Novel variants in GABAA receptor subunits: A possible association with benzodiazepine resistance in patients with drug-resistant epilepsy.
Title: Novel variants in GABA(A) receptor subunits: A possible association with benzodiazepine resistance in patients with drug-resistant epilepsy.
Effects of alpha5 GABAA receptor modulation on social interaction, memory, and neuroinflammation in a mouse model of Alzheimer's disease.
Title: Effects of α5 GABA(A) receptor modulation on social interaction, memory, and neuroinflammation in a mouse model of Alzheimer's disease.
GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands.
Title: GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands.
Sex Differences in the Expression of the alpha5 Subunit of the GABAA Receptor in Alcoholics with and without Cirrhosis of the Liver.
Title: Sex Differences in the Expression of the α5 Subunit of the GABA(A) Receptor in Alcoholics with and without Cirrhosis of the Liver.
study identified GABRA5 as a causative gene for early onset epileptic encephalopathy and expands the mutant GABRA1 phenotypic spectrum, supporting growing evidence that defects in GABAergic neurotransmission contribute to early onset epileptic encephalopathy phenotypes.
Title: Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.
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.
cryo-EM structure of the human alpha5beta3 GABAA receptor
Title: Cryo-EM structure of the human α5β3 GABA(A) receptor.
The GABRA5 p.V294L variant produced receptors that were 10-times more sensitive to GABA but had reduced maximal GABA-evoked current due to increased receptor desensitization.
Title: De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
Meta-analysis showed that GABRA5 polymorphisms are not significantly associated with autism.
Title: Meta-Analysis of the Association between GABA Receptor Polymorphisms and Autism Spectrum Disorder (ASD).
GABAA receptor gene polymorphisms can predict symptom-based and developmental deficits in autistic spectrum disorders individuals.
Title: GABA(A) receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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, 79 MedGen: C5231410 OMIM: 618559 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	The gene expression of gamma-aminobutyric acid A receptor alpha 5 subunit is significantly upregulated in clade B Tat treated SK-N-MC neuroblastoma cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15S1192 (e-PCR)
- UniSTS:39945

NoName (e-PCR)
- UniSTS:485396

GABRA5_652 (e-PCR)
- UniSTS:280685

STS-L08485 (e-PCR)
- UniSTS:83130

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GABA receptor binding	IEA Inferred from Electronic Annotation more info
contributes_to GABA-A receptor activity	IBA Inferred from Biological aspect of Ancestor 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 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 signaling receptor activity	TAS 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 associative learning	IEA Inferred from Electronic Annotation more info
involved_in behavioral fear response	IEA Inferred from Electronic Annotation more info
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in cochlea development	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
involved_in inner ear receptor cell development	IEA Inferred from Electronic Annotation more info
involved_in innervation	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 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
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in dendrite membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay 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
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in postsynapse	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic specialization membrane	IEA Inferred from Electronic Annotation more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation 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-5

Names: GABA(A) receptor subunit alpha-5; gamma-aminobutyric acid (GABA) A receptor, alpha 5; gamma-aminobutyric acid type A receptor alpha5 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_032883.1 RefSeqGene

Range

5344..87490

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000810.4 → NP_000801.1 gamma-aminobutyric acid receptor subunit alpha-5 precursor

See identical proteins and their annotated locations for NP_000801.1

Status: REVIEWED

Description

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

Source sequence(s)

BC011403, BC113422, L08485, R49008

Consensus CDS

CCDS45194.1

UniProtKB/Swiss-Prot

A8K338, P31644, Q14DC2, Q53XL6, Q9NYT3, Q9NYT4, Q9NYT5

UniProtKB/TrEMBL

B4DFX3

Related

ENSP00000335592.5, ENST00000335625.10

Conserved Domains (2) summary

cd19038
Location:58 → 256

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

cd19052
Location:259 → 445

LGIC_TM_GABAAR_alpha; transmembrane domain of alpha subunits of type-A gamma-aminobutyric acid receptor (GABAAR)
NM_001165037.2 → NP_001158509.1 gamma-aminobutyric acid receptor subunit alpha-5 precursor

See identical proteins and their annotated locations for NP_001158509.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC135999, BC011403, BC111979, DB506215, R49008

Consensus CDS

CCDS45194.1

UniProtKB/Swiss-Prot

A8K338, P31644, Q14DC2, Q53XL6, Q9NYT3, Q9NYT4, Q9NYT5

UniProtKB/TrEMBL

B4DFX3

Related

ENSP00000382953.3, ENST00000400081.7

Conserved Domains (2) summary

cd19038
Location:58 → 256

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

cd19052
Location:259 → 445

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

26866719..26949208

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017022055.2 → XP_016877544.1 gamma-aminobutyric acid receptor subunit alpha-5 isoform X2
XM_047432338.1 → XP_047288294.1 gamma-aminobutyric acid receptor subunit alpha-5 isoform X2
XM_006720459.3 → XP_006720522.1 gamma-aminobutyric acid receptor subunit alpha-5 isoform X1

See identical proteins and their annotated locations for XP_006720522.1

UniProtKB/Swiss-Prot

A8K338, P31644, Q14DC2, Q53XL6, Q9NYT3, Q9NYT4, Q9NYT5

UniProtKB/TrEMBL

B4DFX3

Conserved Domains (2) summary

cd19038
Location:58 → 256

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

cd19052
Location:259 → 445

LGIC_TM_GABAAR_alpha; transmembrane domain of alpha subunits of type-A gamma-aminobutyric acid receptor (GABAAR)
XM_017022056.2 → XP_016877545.1 gamma-aminobutyric acid receptor subunit alpha-5 isoform X2
XM_005268258.3 → XP_005268315.1 gamma-aminobutyric acid receptor subunit alpha-5 isoform X1

See identical proteins and their annotated locations for XP_005268315.1

UniProtKB/Swiss-Prot

A8K338, P31644, Q14DC2, Q53XL6, Q9NYT3, Q9NYT4, Q9NYT5

UniProtKB/TrEMBL

B4DFX3

Conserved Domains (2) summary

cd19038
Location:58 → 256

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

cd19052
Location:259 → 445

LGIC_TM_GABAAR_alpha; transmembrane domain of alpha subunits of type-A gamma-aminobutyric acid receptor (GABAAR)
XM_047432339.1 → XP_047288295.1 gamma-aminobutyric acid receptor subunit alpha-5 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

24607751..24690792

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054377665.1 → XP_054233640.1 gamma-aminobutyric acid receptor subunit alpha-5 isoform X2
XM_054377664.1 → XP_054233639.1 gamma-aminobutyric acid receptor subunit alpha-5 isoform X2
XM_054377662.1 → XP_054233637.1 gamma-aminobutyric acid receptor subunit alpha-5 isoform X1

UniProtKB/Swiss-Prot

A8K338, P31644, Q14DC2, Q53XL6, Q9NYT3, Q9NYT4, Q9NYT5
XM_054377667.1 → XP_054233642.1 gamma-aminobutyric acid receptor subunit alpha-5 isoform X2
XM_054377663.1 → XP_054233638.1 gamma-aminobutyric acid receptor subunit alpha-5 isoform X1

UniProtKB/Swiss-Prot

A8K338, P31644, Q14DC2, Q53XL6, Q9NYT3, Q9NYT4, Q9NYT5
XM_054377666.1 → XP_054233641.1 gamma-aminobutyric acid receptor subunit alpha-5 isoform X2