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

    Gene ID: 2569, updated on 4-Jun-2017
    Official Symbol
    GABRR1provided by HGNC
    Official Full Name
    gamma-aminobutyric acid type A receptor rho1 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:4090
    See related
    Ensembl:ENSG00000146276 MIM:137161; Vega:OTTHUMG00000015195
    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]
    Orthologs
    Location:
    6q15
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 serine and arginine rich splicing factor 12 Neighboring gene peptidase M20 domain containing 2 Neighboring gene uncharacterized LOC101929004 Neighboring gene gamma-aminobutyric acid type A receptor rho2 subunit Neighboring gene tubulin beta 3 class III pseudogene 1 Neighboring gene ubiquitin conjugating enzyme E2 J1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    NHGRI GWA Catalog
    • GABA A (rho) receptor activation, organism-specific biosystem (from REACTOME)
      GABA A (rho) receptor activation, organism-specific biosystemGABA A (rho) receptors are highly expressed in the retina and are functional homopentamers of rho subunits. These receptors are formerly called GABA C receptors.
    • GABA receptor activation, organism-specific biosystem (from REACTOME)
      GABA receptor activation, organism-specific biosystemGamma aminobutyric acid (GABA) receptors are the major inhibitory receptors in human synapses. They are of two types. GABA A receptors are fast-acting ligand gated chloride ion channels that mediate ...
    • GABAergic synapse, organism-specific biosystem (from KEGG)
      GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • GABAergic synapse, conserved biosystem (from KEGG)
      GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Ligand-gated ion channel transport, organism-specific biosystem (from REACTOME)
      Ligand-gated ion channel transport, organism-specific biosystemLigand-gated ion channels (LGICs) are a group of transmembrane ion channels that are opened or closed in response to the binding of a chemical messenger (Purves, 2001).
    • Morphine addiction, organism-specific biosystem (from KEGG)
      Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Morphine addiction, conserved biosystem (from KEGG)
      Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
      Neuroactive ligand-receptor interaction
    • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
      Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
    • Nicotine addiction, organism-specific biosystem (from KEGG)
      Nicotine addiction, organism-specific biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
    • Nicotine addiction, conserved biosystem (from KEGG)
      Nicotine addiction, conserved biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
    • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
      Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
      Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC163216

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to GABA-A receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular ligand-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    chemical synaptic transmission TAS
    Traceable Author Statement
    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 TAS
    Traceable Author Statement
    more info
     
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    GABA-A receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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_002042.4NP_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)
      AK313609, AL353135, AW135923, M62400
      Consensus CDS
      CCDS5019.2
      UniProtKB/Swiss-Prot
      P24046
      Related
      ENSP00000412673.2, OTTHUMP00000016849, ENST00000454853.6, OTTHUMT00000041479
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 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

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      89985186..90038978 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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