GABRR1 gamma-aminobutyric acid type A receptor subunit rho1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GABRR1provided by HGNC
Official Full Name: gamma-aminobutyric acid type A receptor subunit rho1provided by HGNC
Primary source: HGNC:HGNC:4090
See related: Ensembl:ENSG00000146276 MIM:137161; AllianceGenome:HGNC:4090
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
Summary: GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 6q15

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (89177504..89231288, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (90386177..90440555, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (89887223..89941007, complement)

Chromosome 6 - NC_000006.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Divergent mechanisms of steroid inhibition in the human rho1 GABAA receptor.
Title: Divergent mechanisms of steroid inhibition in the human ρ1 GABA(A) receptor.
GABAergic genes interacting with parenting in adolescent depressive symptoms: GABRR1 X perceived parental support interaction.
Title: Gene-based interaction analysis shows GABAergic genes interacting with parenting in adolescent depressive symptoms.
Study determined that levels of GABAA receptors rho1 and rho2 are not altered in the cerebellum of WT and rho1 knockin mice. In addition, findings show that mutation of the inhibitory ethanol site in rho1 does not alter normal channel function, but is important for the development of acute tolerance to ethanol-induced motor impairment.
Title: Mutation of the inhibitory ethanol site in GABA(A) ρ1 receptors promotes tolerance to ethanol-induced motor incoordination.
The most common polymorphisms in the GABRR genes seemed to be not associated with the risk for migraine in Caucasian Spanish people, although one of them (GABRR1 rs1186902) shows a statistically significant association with the age of onset of migraine.
Title: Gamma-Aminobutyric Acid (Gaba) Receptors Rho (Gabrr) Gene Polymorphisms and Risk for Migraine.
Thr244 of rho1 GABAC Receptors is an important residue for channel activation as it forms a H-bond with agonists, initiating the conformational changes required for priming of the receptor and stabilizes the open conformation (review).
Title: Investigating the Role of Loop C Hydrophilic Residue 'T244' in the Binding Site of ρ1 GABAC Receptors via Site Mutation and Partial Agonism.
Both GABAAalpha1 and GABAArho1 mRNAs and proteins were identified in cultured retinal pigment epithelial cells; antibody staining was mainly localized to the cell membrane and was also present in the cytoplasm but not in the nucleus.
Title: GABAAα1 and GABAAρ1 subunits are expressed in cultured human RPE cells and GABAA receptor agents modify the intracellular calcium concentration.
Data indicate that all compounds from the study exhibited increased selectivity for GABAC.
Title: Γ-aminobutyric acid(C) (GABAC) selective antagonists derived from the bioisosteric modification of 4-aminocyclopent-1-enecarboxylic acid: amides and hydroxamates.
The function of GABA(C) receptors can be enhanced by nitric oxide acting at the extracellular Cys-loop.
Title: Nitric oxide potentiation of the homomeric ρ1 GABA(C) receptor function.
evidence supporta the involvement of histaminergic and gamma-aminobutyric acidergic mechanisms in the etiology of TS and show an overlap of rare CNVs in TS and autism spectrum disorder.
Title: Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism.
found no significant differences in either the frequencies of the GABRR1-M26V, GABRR1- H27R, GABRR2-T455M, and GABRR3-Y205X genotypes or in the frequencies of the allelic variants of these polymorphisms in patients with essential tremor
Title: Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor.

Submit: New GeneRIF Correction See all GeneRIFs (25)

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

EBI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80482 (e-PCR)
- UniSTS:92937

NoName (e-PCR)
- UniSTS:481824

RH122969 (e-PCR)
- UniSTS:135265

D6S2057 (e-PCR)
- UniSTS:28537

WI-18966 (e-PCR)
- UniSTS:81592

NoName (e-PCR)
- UniSTS:482001

SHGC-81716 (e-PCR)
- UniSTS:170238

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GABA-A receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables GABA-A receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables GABA-gated chloride ion channel activity	ISS Inferred from Sequence or Structural Similarity more info
contributes_to chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IEA Inferred from Electronic Annotation more info
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in gamma-aminobutyric acid signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in regulation of presynaptic membrane potential	IEA Inferred from Electronic Annotation 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 glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in intracellular vesicle	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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

Names: GABA(A) receptor subunit rho-1; GABA(A) receptor, rho 1; GABA(C) receptor; GABAAR subunit rho-1; bA135P14.1 (gamma-aminobutyric acid (GABA) receptor, rho 1); gamma-aminobutyric acid (GABA) A receptor, rho-1; gamma-aminobutyric acid (GABA) receptor, rho 1; gamma-aminobutyric acid type A receptor rho1 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_001256703.1 → NP_001243632.1 gamma-aminobutyric acid receptor subunit rho-1 isoform b precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AK296124, AK313609, AL353135, AW135923

Consensus CDS

CCDS59029.1

UniProtKB/Swiss-Prot

P24046

Related

ENSP00000394687.1, ENST00000435811.5

Conserved Domains (3) summary

TIGR00860
Location:58 → 461

LIC; Cation transporter family protein

pfam02931
Location:59 → 264

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:271 → 458

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_001256704.1 → NP_001243633.1 gamma-aminobutyric acid receptor subunit rho-1 isoform c

See identical proteins and their annotated locations for NP_001243633.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).

Source sequence(s)

AK313609, AL353135, AW135923

Consensus CDS

CCDS59028.1

UniProtKB/Swiss-Prot

P24046

Conserved Domains (2) summary

pfam02931
Location:1 → 194

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:201 → 388

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_001267582.2 → NP_001254511.1 gamma-aminobutyric acid receptor subunit rho-1 isoform c

See identical proteins and their annotated locations for NP_001254511.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains several upstream and one downstream exon in place of the first exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).

Source sequence(s)

AK298948, AL353135, AW135923, DA753437

Consensus CDS

CCDS59028.1

UniProtKB/Swiss-Prot

P24046

Related

ENSP00000358463.3, ENST00000369451.7

Conserved Domains (2) summary

pfam02931
Location:1 → 194

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:201 → 388

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_002042.5 → NP_002033.2 gamma-aminobutyric acid receptor subunit rho-1 isoform a precursor

See identical proteins and their annotated locations for NP_002033.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AL353135, AL353659

Consensus CDS

CCDS5019.2

UniProtKB/Swiss-Prot

A1L401, B4DJK8, B4DQT5, B7ZBQ7, P24046, Q9BX06

Related

ENSP00000412673.2, ENST00000454853.7

Conserved Domains (3) summary

TIGR00860
Location:75 → 478

LIC; Cation transporter family protein

pfam02931
Location:76 → 281

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:288 → 475

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

89177504..89231288 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017010689.2 → XP_016866178.1 gamma-aminobutyric acid receptor subunit rho-1 isoform X1

UniProtKB/Swiss-Prot

P24046

Conserved Domains (2) summary

pfam02931
Location:1 → 194

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:201 → 388

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

90386177..90440555 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054355073.1 → XP_054211048.1 gamma-aminobutyric acid receptor subunit rho-1 isoform X2
XM_054355074.1 → XP_054211049.1 gamma-aminobutyric acid receptor subunit rho-1 isoform X1