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

Gene ID: 2569, updated on 21-Dec-2019

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
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

Genomic context

See GABRR1 in Genome Data Viewer
Location:
6q15
Exon count:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (89177504..89231288, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (89887223..89941007, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene peptidase M20 domain containing 2 Neighboring gene Sharpr-MPRA regulatory region 5254 Neighboring gene uncharacterized LOC101929004 Neighboring gene gamma-aminobutyric acid type A receptor subunit rho2 Neighboring gene tubulin beta 3 class III pseudogene 1 Neighboring gene ubiquitin conjugating enzyme E2 J1

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?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC163216

Gene Ontology Provided by GOA

Process Evidence Code Pubs
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
gamma-aminobutyric acid signaling pathway TAS
Traceable Author Statement
more info
PubMed 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
regulation of presynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
gamma-aminobutyric acid receptor subunit rho-1
Names
GABA(A) receptor subunit rho-1
GABA(A) receptor, rho 1
GABA(C) receptor
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)

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_001256703.1NP_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:58461
    LIC; Cation transporter family protein
    pfam02931
    Location:59264
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:271458
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  2. NM_001256704.1NP_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
    Related
    ENSP00000478846.1, ENST00000611484.4
    Conserved Domains (2) summary
    pfam02931
    Location:1194
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:201388
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  3. NM_001267582.1NP_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
    ENSP00000481986.1, ENST00000621627.4
    Conserved Domains (2) summary
    pfam02931
    Location:1194
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:201388
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  4. NM_002042.5NP_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
    P24046
    Related
    ENSP00000412673.2, ENST00000454853.6
    Conserved Domains (3) summary
    TIGR00860
    Location:75478
    LIC; Cation transporter family protein
    pfam02931
    Location:76281
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:288475
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    89177504..89231288 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    P24046
    Conserved Domains (2) summary
    pfam02931
    Location:1194
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:201388
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
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