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

Summary

Official Symbol: Gabrqprovided by MGI
Official Full Name: gamma-aminobutyric acid type A receptor subunit thetaprovided by MGI
Primary source: MGI:MGI:1888498
See related: Ensembl:ENSMUSG00000031344 AllianceGenome:MGI:1888498
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
Summary: Predicted to enable neurotransmitter receptor activity. Predicted to contribute to GABA-A receptor activity and chloride channel activity. Predicted to be involved in several processes, including chemical synaptic transmission; chloride transmembrane transport; and regulation of membrane potential. Predicted to act upstream of or within chloride transport and gamma-aminobutyric acid signaling pathway. Predicted to be located in postsynaptic membrane. Predicted to be integral component of membrane. Predicted to be part of GABA-A receptor complex. Predicted to be active in neuron projection and synapse. Predicted to be integral component of plasma membrane. Is expressed in several structures, including brain; eye; genitourinary system; immune system; and liver and biliary system. Orthologous to human GABRQ (gamma-aminobutyric acid type A receptor subunit theta). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in spleen adult (RPKM 1.4), CNS E18 (RPKM 1.1) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A7.3; X 37.29 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (71868769..71886213)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (72825163..72842607)

Chromosome X - NC_000086.8 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 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?

GABRQ plays important roles in hepatocellular carcinoma development and progression
Title: GABA stimulates human hepatocellular carcinoma growth through overexpressed GABAA receptor theta subunit.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (3)
Targeted (1)

General gene information

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Markers

UniSTS:496008 (e-PCR)
- UniSTS:496008

Gabrq (e-PCR), detects polymorphism
- UniSTS:496008

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 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-A receptor activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables GABA-gated chloride ion channel activity	ISO Inferred from Sequence Orthology 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 neurotransmitter receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor 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
acts_upstream_of_or_within chloride transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within gamma-aminobutyric acid signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of membrane potential	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 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	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info	PubMed
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 theta

Names: GABAAR subunit theta; gamma-aminobutyric acid (GABA) A receptor, subunit theta

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_001290435.1 → NP_001277364.1 gamma-aminobutyric acid receptor subunit theta isoform a precursor

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (a).

Source sequence(s)

AK038859, AK164837, AL671908

Consensus CDS

CCDS72390.1

UniProtKB/TrEMBL

B1AUQ5

Related

ENSMUSP00000110200.2, ENSMUST00000114553.8

Conserved Domains (2) summary

pfam02931
Location:60 → 264

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:271 → 373

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_020488.2 → NP_065234.1 gamma-aminobutyric acid receptor subunit theta isoform b precursor

See identical proteins and their annotated locations for NP_065234.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is longer than isoform a.

Source sequence(s)

AF189260, AL671908

Consensus CDS

CCDS30188.1

UniProtKB/Swiss-Prot

Q9JLF1

UniProtKB/TrEMBL

Q0VEX8

Related

ENSMUSP00000033711.6, ENSMUST00000033711.6

Conserved Domains (4) summary

cd19003
Location:82 → 263

LGIC_ECD_GABAAR_theta; extracellular domain of gamma-aminobutyric acid receptor subunit theta (GABRQ)

cd03559
Location:612 → 633

LGIC_TM; TM4 helix [structural motif]

cd19056
Location:266 → 365

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

cl38911
Location:604 → 636

LGIC_TM; transmembrane domain of Cys-loop neurotransmitter-gated ion channels

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_000086.8 Reference GRCm39 C57BL/6J

Range

71868769..71886213

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017318583.1 → XP_017174072.1 gamma-aminobutyric acid receptor subunit theta isoform X2

Conserved Domains (5) summary

cd03558
Location:183 → 197

LGIC_ECD; Cys-loop [structural motif]

cd03559
Location:564 → 588

LGIC_TM; TM4 helix [structural motif]

cd19056
Location:221 → 320

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

cl28912
Location:82 → 218

LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))

cl38911
Location:559 → 591

LGIC_TM; transmembrane domain of Cys-loop neurotransmitter-gated ion channels
XM_006528173.1 → XP_006528236.1 gamma-aminobutyric acid receptor subunit theta isoform X1

See identical proteins and their annotated locations for XP_006528236.1

UniProtKB/Swiss-Prot

Q9JLF1

UniProtKB/TrEMBL

Q0VEX8

Conserved Domains (4) summary

cd19003
Location:82 → 263

LGIC_ECD_GABAAR_theta; extracellular domain of gamma-aminobutyric acid receptor subunit theta (GABRQ)

cd03559
Location:612 → 633

LGIC_TM; TM4 helix [structural motif]

cd19056
Location:266 → 365

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

cl38911
Location:604 → 636

LGIC_TM; transmembrane domain of Cys-loop neurotransmitter-gated ion channels