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GABRR3 gamma-aminobutyric acid type A receptor subunit rho3 [ Homo sapiens (human) ]

Gene ID: 200959, updated on 11-Apr-2024

Summary

Official Symbol
GABRR3provided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor subunit rho3provided by HGNC
Primary source
HGNC:HGNC:17969
See related
Ensembl:ENSG00000183185 MIM:618668; AllianceGenome:HGNC:17969
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
The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]
Annotation information
Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See GABRR3 in Genome Data Viewer
Location:
3q11.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (97985102..98035315, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (100688820..100739024, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (97703946..97754159, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene crystallin beta-gamma domain containing 3 Neighboring gene ribosomal oxygenase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14553 Neighboring gene uncharacterized LOC124909398 Neighboring gene Sharpr-MPRA regulatory region 5379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20130 Neighboring gene Sharpr-MPRA regulatory region 13337 Neighboring gene olfactory receptor family 5 subfamily BM member 1 pseudogene Neighboring gene olfactory receptor family 5 subfamily AC member 1 (gene/pseudogene)

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

General gene information

Markers

Clone Names

  • DKFZp781O1955

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 NAS
Non-traceable Author Statement
more info
PubMed 
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables extracellular ligand-gated 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 protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in chemical synaptic transmission NAS
Non-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 NAS
Non-traceable Author Statement
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
 
is_active_in cellular_component ND
No biological Data available
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 TAS
Traceable Author Statement
more info
 
located_in postsynaptic 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

Preferred Names
gamma-aminobutyric acid receptor subunit rho-3
Names
GABA(A) receptor subunit rho-3
GABA(C) receptor
gamma-aminobutyric acid (GABA) A receptor, rho 3
gamma-aminobutyric acid type A receptor rho3 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)

  1. NM_001105580.3NP_001099050.1  gamma-aminobutyric acid receptor subunit rho-3 precursor

    See identical proteins and their annotated locations for NP_001099050.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the functional allele (SNP rs832032, has Tyr205 versus a stop codon) and encodes the supported protein.
    Source sequence(s)
    AC026100, KF459624
    Consensus CDS
    CCDS54617.1
    UniProtKB/Swiss-Prot
    A8MPY1, Q9UIV9
    Related
    ENSP00000420790.1, ENST00000472788.6
    Conserved Domains (3) summary
    TIGR00860
    Location:55466
    LIC; Cation transporter family protein
    pfam02931
    Location:59267
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:274463
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RNA

  1. NR_047685.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, non-coding) represents the non-functional allele with a premature stop codon (SNP rs832032, Tyr205X), as found in some individuals.
    Source sequence(s)
    AC026100, CR749263, KF459624

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

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    97985102..98035315 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    100688820..100739024 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)