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GABBR1 Gene

protein-coding   GIFtS: 69
GCID: GC06M029523

Gamma-Aminobutyric Acid (GABA) B Receptor, 1

  See GABBR1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Gamma-Aminobutyric Acid (GABA) B Receptor, 11 2     dJ271M21.1.22
GABA-BR12 3     GABAB, Subunit 1c2
GABABR12 3     Gamma-Aminobutyric Acid Type B Receptor Subunit 12
GPRC3A2 3     Seven Transmembrane Helix Receptor2
GABA-B Receptor1     GABA-B-R13
GABBR1-32     Gb13
GB12     GABA-B Receptor 13
dJ271M21.1.12     

External Ids:    HGNC: 40701   Entrez Gene: 25502   Ensembl: ENSG000002046817   OMIM: 6035405   UniProtKB: Q9UBS53   

Export aliases for GABBR1 gene to outside databases

Previous GC identifers: GC06M029627 GC06M029340 GC06M029631 GC06M029664


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GABBR1 Gene:
Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the mammalian central nervous system.
GABA exerts its effects through ionotropic (GABA(A/C)) receptors, to produce fast synaptic inhibition, and
metabotropic (GABA(B)) receptors, to produce slow, prolonged inhibitory signals. The GABA(B) receptor consists of
a heterodimer of two related 7-transmembrane receptors, GABA(B) receptor 1 and GABA(B) receptor 2. The GABA(B)
receptor 1 gene is mapped to chromosome 6p21.3 within the HLA class I region close to the HLA-F gene.
Susceptibility loci for multiple sclerosis, epilepsy, and schizophrenia have also been mapped in this region.
Alternative splicing of this gene generates multiple transcript variants. (provided by RefSeq, Jun 2009)

GeneCards Summary for GABBR1 Gene:
GABBR1 (gamma-aminobutyric acid (GABA) B receptor, 1) is a protein-coding gene. Diseases associated with GABBR1 include persistent vegetative state, and hereditary sensory neuropathy type 1. GO annotations related to this gene include G-protein coupled GABA receptor activity. An important paralog of this gene is GABBR2.

UniProtKB/Swiss-Prot: GABR1_HUMAN, Q9UBS5
Function: Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2. Within
the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G
proteins. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding
proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling
inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates
voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis. Calcium is required for high
affinity binding to GABA. Plays a critical role in the fine-tuning of inhibitory synaptic transmission.
Pre-synaptic GABA receptor inhibits neurotransmitter release by down-regulating high-voltage activated calcium
channels, whereas postsynaptic GABA receptor decreases neuronal excitability by activating a prominent inwardly
rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials. Not only
implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle
relaxation and antinociception. Activated by (-)-baclofen, cgp27492 and blocked by phaclofen
Function: Isoform 1E may regulate the formation of functional GABBR1/GABBR2 heterodimers by competing for GABBR2
binding. This could explain the observation that certain small molecule ligands exhibit differential affinity for
central versus peripheral sites

summary for GABBR1 Gene:
GABAB receptors are metabotropic G-protein-coupled receptors responsible for mediating the inhibitory
effects of GABA alongside ionotropic GABAA and GABAC receptors. They exist as heterodimers of GABAB1 and
GABAB2 subunits and the presence of both subunits is required for receptor function. When GABAB1 is
expressed alone it is non-functional and is not transported to the cell membrane. The GABAB1 subunit is
responsible for binding GABA while the GABAB2 subunit interacts with the G protein. The two subunits
interact allosterically, GABA increases coupling of GABAB2 to G proteins and GABAB2 increases agonist
binding to GABAB1. GABAB receptors are coupled to Ca2+ and K+ channels.

Gene Wiki entry for GABBR1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NT_113891.3  NT_167244.2  NT_167245.2  NT_167246.2  NT_167247.2  NT_167248.2  
NC_018917.2  NT_167249.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GABBR1 gene promoter:
         CREB   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GABBR1 promoter sequence
   Search Chromatin IP Primers for GABBR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GABBR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.31   Ensembl cytogenetic band:  6p22.1   HGNC cytogenetic band: 6p21.3

GABBR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABBR1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M029523:  view genomic region     (about GC identifiers)

Start:
29,523,406 bp from pter      End:
29,601,753 bp from pter
Size:
78,348 bases      Orientation:
minus strand

6 alternative locations:
Chr6-,NT_167244 873,547-904,496      Chr6-,NT_113891.2 1,088,814-1,119,772      Chr6-,NT_167245 873,362-904,320     
Chr6-,NT_167247 873,208-904,163      Chr6-,NT_167246 873,029-903,954      Chr6-,NT_167248 873,336-904,294     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GABR1_HUMAN, Q9UBS5 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid type B receptor subunit 1 precursor  
Size: 961 amino acids; 108320 Da
Subunit: Heterodimer of GABBR1 and GABBR2. Homodimers may form, but are inactive. Isoform 1E (without C-terminal
intracellular domain) is unable to dimerize via a coiled-coil interaction with GABBR2. Interacts with the leucine
zipper of the C-terminal bZIP domain of ATF4 via its C-terminal region. Interacts with JAKMIP1
Selected PDB 3D structures from and Proteopedia for GABBR1 (see all 9):
4MQE (3D)        4MQF (3D)        4MR7 (3D)        4MR8 (3D)        4MR9 (3D)        4MRM (3D)    
Secondary accessions: B0UXY7 O95375 O95468 O95975 O96022 Q5STL4 Q5SUJ8 Q5SUL3 Q71SG6 Q86W60
Q9UQQ0
Alternative splicing: 5 isoforms:  Q9UBS5-1   Q9UBS5-2   Q9UBS5-3   Q9UBS5-4   Q9UBS5-5   (Major isoform in almost all peripheral tissues, although containing a premature stop codon in the mRNA and thus being a potential target for nonsense-mediated mRNA decay. May act as an antagonist of GABA-B receptors, being able to disrupt the normal association between isoform 1A and GABBR2)

Explore the universe of human proteins at neXtProt for GABBR1: NX_Q9UBS5

Explore proteomics data for GABBR1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn24, Asn84, Asn409, Asn440, Asn482, Asn502, Asn514
  • Modification sites at PhosphoSitePlus

  • See GABBR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001461.1  NP_068703.1  NP_068704.2  

    ENSEMBL proteins: 
     ENSP00000348248   ENSP00000419356   ENSP00000366215   ENSP00000366211   ENSP00000417478  
     ENSP00000366233   ENSP00000419061   ENSP00000417663   ENSP00000420602   ENSP00000419755  
     ENSP00000417332   ENSP00000366176  
    Reactome Protein details: Q9UBS5

    GABBR1 Human Recombinant Protein Products:

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    Novus Biologicals GABBR1 Proteins
    Novus Biologicals GABBR1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for GABBR1 

    GABBR1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GABBR1
    R&D Systems Antibodies for GABBR1 (GABA-B R1)
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    OriGene Custom Antibody Services for GABBR1
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    Abcam antibodies for GABBR1
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    ThermoFisher Antibodies for GABBR1
    LSBio Antibodies in human, mouse, rat for GABBR1

    GABBR1 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for GABBR1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GABBR: GPCR / Class C : GABA(B) receptors
    GABR: GABA receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: GABAB1
    GABAB receptors

    Selected InterPro protein domains (see all 6):
     IPR028082 Peripla_BP_I
     IPR000436 Sushi_SCR_CCP
     IPR002456 GPCR_3_GABA_rcpt_B1
     IPR002455 GPCR_3_GABA_rcpt_B
     IPR017978 GPCR_3_C

    Graphical View of Domain Structure for InterPro Entry Q9UBS5

    ProtoNet protein and cluster: Q9UBS5

    4 Blocks protein domains:
    IPB000436 Sushi domain/SCR domain/CCP module
    IPB001828 Extracellular ligand-binding receptor
    IPB002455 Metabotropic gamma-aminobutyric acid type B receptor signature
    IPB002456 Metabotropic gamma-aminobutyric acid type B1 receptor signature


    UniProtKB/Swiss-Prot: GABR1_HUMAN, Q9UBS5
    Domain: Alpha-helical parts of the C-terminal intracellular region mediate heterodimeric interaction with GABBR2.
    The linker region between the transmembrane domain 3 (TM3) and the transmembrane domain 4 (TM4) probably plays a
    role in the specificity for G-protein coupling
    Similarity: Belongs to the G-protein coupled receptor 3 family. GABA-B receptor subfamily
    Similarity: Contains 2 Sushi (CCP/SCR) domains


    Find genes that share domains with GABBR1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GABR1_HUMAN, Q9UBS5
    Function: Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2. Within
    the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G
    proteins. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding
    proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling
    inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates
    voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis. Calcium is required for high
    affinity binding to GABA. Plays a critical role in the fine-tuning of inhibitory synaptic transmission.
    Pre-synaptic GABA receptor inhibits neurotransmitter release by down-regulating high-voltage activated calcium
    channels, whereas postsynaptic GABA receptor decreases neuronal excitability by activating a prominent inwardly
    rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials. Not only
    implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle
    relaxation and antinociception. Activated by (-)-baclofen, cgp27492 and blocked by phaclofen
    Function: Isoform 1E may regulate the formation of functional GABBR1/GABBR2 heterodimers by competing for GABBR2
    binding. This could explain the observation that certain small molecule ligands exhibit differential affinity for
    central versus peripheral sites

         Genatlas biochemistry entry for GABBR1:
    gamma-aminobutyric acid (GABA),B receptor 1a,metabotropic expressed in fetal brain,G protein coupled receptor
    superfamily,heterodimerizing with GABBR2 for formation of a functional receptor,producing slow prolonged
    inhibitory signals,with isoforms (splice variants) expressed in various peripheral tissues

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity ----
    GO:0004965contributes to G-protein coupled GABA receptor activity IDA9872316
    GO:0005515protein binding IPI16724110
         
    Find genes that share ontologies with GABBR1           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Gabbr1):
     adipose tissue  behavior/neurological  growth/size/body  homeostasis/metabolism  integument 
     mortality/aging  nervous system  reproductive system 

    Find genes that share phenotypes with GABBR1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GABBR1: Gabbr1tm3Bet Gabbr1tm2.1Bet Gabbr1tm1Bet Gabbr1tm4Bet

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GABBR1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GABBR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GABBR1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GABBR1

    miRNA
    Products:
        
    miRTarBase miRNAs that target GABBR1:
    hsa-mir-26b-5p (MIRT029420), hsa-mir-335-5p (MIRT017808)

    Block miRNA regulation of human, mouse, rat GABBR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GABBR1 (see all 19):
    hsa-miR-106a hsa-miR-128 hsa-miR-29b-1* hsa-miR-93 hsa-miR-526b* hsa-miR-17 hsa-miR-30c-2* hsa-miR-140-3p
    SwitchGear 3'UTR luciferase reporter plasmidGABBR1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GABBR1
    Predesigned siRNA for gene silencing in human, mouse, rat GABBR1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GABBR1

    Clone
    Products:
         
    OriGene clones in human, mouse for GABBR1 (see all 20)
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    GenScript: all cDNA clones in your preferred vector (see all 3): GABBR1 (NM_001470)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABBR1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GABR1_HUMAN, Q9UBS5: Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell
    membrane; Multi-pass membrane protein. Cell projection, dendrite (By similarity). Note=Colocalizes with ATF4 in
    hippocampal neuron dendritic membranes (By similarity). Coexpression of GABBR1 and GABBR2 is required for GABBR1
    maturation and transport to the plasma membrane
    GABR1_HUMAN, Q9UBS5: Isoform 1E: Secreted (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular4
    nucleus2
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IDA9872316
    GO:0016020membrane ----

    Find genes that share ontologies with GABBR1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GABBR1 About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.36
    G alpha (i) signalling events0.44
    2GABA signaling in brain
    Synaptic Neurotransmission: GABAergic Inhibition0.32
    GABA signaling in brain0.32
    3Inwardly rectifying K+ channels
    Inwardly rectifying K+ channels0.82
    G protein gated Potassium channels0.82
    Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits0.82
    Activation of G protein gated Potassium channels0.82
    4Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    5GABA receptor activation
    GABA B receptor activation0.73
    GABA receptor activation0.73
    Activation of GABAB receptors0.73


    Find genes that share SuperPaths with GABBR1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for GABBR1
        Synaptic Neurotransmission: GABAergic Inhibition


    1 Cell Signaling Technology (CST) Pathway for GABBR1
        Neuroscience

    1 BioSystems Pathway for GABBR1
        GPCRs, Class C Metabotropic glutamate, pheromone

    5 Reactome Pathways for GABBR1
        Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
    Activation of G protein gated Potassium channels
    Class C/3 (Metabotropic glutamate/pheromone receptors)
    GABA B receptor activation
    G alpha (i) signalling events


    4 Kegg Pathways  (Kegg details for GABBR1):
        Neuroactive ligand-receptor interaction
    GABAergic synapse
    Estrogen signaling pathway
    Morphine addiction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABBR1: 
              Neurotransmitter Receptors in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat
              GABA & Glutamate in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GABBR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for GABBR1 (Q9UBS51, 2, 3 ENSP000003662334) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NSFP464591, 2, 3, ENSP000003812934EBI-724156,EBI-712251 MINT-2793384 MINT-2793111 MINT-2793092 I2D: score=2 STRING: ENSP00000381293
    ABL1P005192, 3MINT-8110395 I2D: score=3 
    PIK3R1P279862, 3MINT-8112003 I2D: score=3 
    NCK1P163331, 3EBI-724156,EBI-389883 I2D: score=2 
    MAXP612441, 3EBI-724156,EBI-751711 I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007193adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IDA10328880
    GO:0007194negative regulation of adenylate cyclase activity TAS9069281
    GO:0007214gamma-aminobutyric acid signaling pathway IDA9872316
    GO:0007268synaptic transmission TAS--

    Find genes that share ontologies with GABBR1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Compounds for GABBR1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CGP 35348 Brain penetrant, selective GABAB antagonist [123690-79-9]
    CGP 55845 hydrochloride Potent, selective GABAB antagonist [149184-22-5]
    SCH 50911 Selective, competitive, orally active GABAB antagonist [160415-07-6]
    CGP 52432 Potent, selective GABAB antagonist [139667-74-6]
    CGP 54626 hydrochloride Potent, selective GABAB antagonist [149184-21-4]

    3 HMDB Compounds for GABBR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Gamma-Aminobutyric acid3-Carboxypropylamine (see all 27)56-12-2--
    PotassiumK+ (see all 16)7440-09-7--

    3 DrugBank Compounds for GABBR1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Baclofen-- 1134-47-0targetagonist10545129 10494996 10386831 10094428 11752352 10482760 10444662 8388192 19303900
    ProgabideHalogabide (see all 4)62666-20-0targetagonist9443561 11752352 2985405
    Vigabatringamma-Vinyl GABA (see all 7)60643-86-9targetagonist20655489

    1 IUPHAR Ligand for GABBR1 (GABAB1)    About this table
    LigandTypeActionAffinityPubmed IDs
    CGP 47656
    AgonistFull agonist4.8 - 59069281

    Selected Novoseek inferred chemical compound relationships for GABBR1 gene (see all 69)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    baclofen 94.6 130 8105549 (4), 10101723 (3), 18536733 (3), 1667917 (2) (see all 99)
    2-hydroxysaclofen 91.8 12 7931577 (1), 8592185 (1), 8385187 (1), 7776249 (1) (see all 12)
    gaba 90.4 343 15749345 (7), 9872315 (6), 12535164 (5), 12196556 (5) (see all 99)
    phaclofen 89.9 22 10085345 (2), 1660534 (1), 8404645 (1), 9772232 (1) (see all 18)
    cgp 35348 88.7 4 7931577 (1), 7602536 (1), 10870516 (1), 8133276 (1)
    3-aminopropylphosphinic acid 86 4 7773531 (1)
    3-aminopropylphosphonic acid 83.6 2 7791524 (1), 8588821 (1)
    bicuculline 82.9 21 2154281 (1), 8592185 (1), 8788913 (1), 9677144 (1) (see all 19)
    muscimol 81.9 15 2247470 (1), 1665783 (1), 9677144 (1), 14960352 (1) (see all 14)
    cgp 54626 78.9 2 15780467 (1), 16054235 (1)



    Find genes that share compounds with GABBR1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GABBR1 gene (4 alternative transcripts): 
    NM_001470.2  NM_021903.2  NM_021904.2  NM_021905.2  

    Unigene Cluster for GABBR1:

    Gamma-aminobutyric acid (GABA) B receptor, 1
    Hs.167017  [show with all ESTs]
    Unigene Representative Sequence: NM_001470
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000355973(uc003nmp.4) ENST00000472823 ENST00000377016 ENST00000377012(uc003nms.4)
    ENST00000491829 ENST00000377034(uc003nmt.4 uc003nmu.4 uc011dlr.2)
    ENST00000478931 ENST00000494877(uc011dls.1) ENST00000488334 ENST00000486434
    ENST00000473774 ENST00000489839 ENST00000494634 ENST00000477029 ENST00000485508
    ENST00000489385 ENST00000467259 ENST00000462632
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    hsa-miR-106a hsa-miR-128 hsa-miR-29b-1* hsa-miR-93 hsa-miR-526b* hsa-miR-17 hsa-miR-30c-2* hsa-miR-140-3p
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    Additional mRNA sequence: 

    AB208790.1 AF099148.1 AF301005.1 AJ012185.1 AJ012186.1 AJ012187.1 AJ012288.1 AJ225028.1 
    AJ225029.1 AK223619.1 AK290191.1 AK312308.1 BC023336.1 BC041332.2 BC042598.1 BC050532.1 
    Y11044.1 

    22 DOTS entries:

    DT.95211539  DT.100026748  DT.115251  DT.95211540  DT.92436187  DT.75100156  DT.97766596  DT.95107679 
    DT.95211542  DT.97788865  DT.97816854  DT.100653178  DT.121390495  DT.121390492  DT.121390500  DT.121390508 
    DT.92027647  DT.95120241  DT.95211520  DT.95226656  DT.40131925  DT.75185597 

    Selected AceView cDNA sequences (see all 255):

    BG818076 BX280913 BG910376 BX644916 W07715 CD630932 CB054344 BM929866 
    BC023336 AL602784 NM_001470 NM_021903 NM_021904 AW090617 T81224 AA742280 
    AJ012187 AI741552 BM680931 BX090421 Y11044 BX111922 BQ718407 BX431259 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GABBR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACTACCCTC
    GABBR1 Expression
    About this image


    GABBR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
     
     Tonsil (Hematopoietic System)
    GABBR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GABBR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.167017

    UniProtKB/Swiss-Prot: GABR1_HUMAN, Q9UBS5
    Tissue specificity: Highly expressed in brain and weakly in heart, small intestine and uterus. Isoform 1A is
    mostly expressed in granular cell and molecular layer. Isoform 1B is mostly expressed in Purkinje cells. Isoform
    1E is predominantly expressed in peripheral tissues as kidney, lung, trachea, colon, small intestine, stomach,
    bone marrow, thymus and mammary gland

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABBR1: 
              Neurotransmitter Receptors in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat
              GABA & Glutamate in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for GABBR1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabbr11 , 5 gamma-aminobutyric acid (GABA) B receptor, 11, 5 91.39(n)1
    98.75(a)1
      17 (19.16 cM)5
    543931  NM_019439.31  NP_062312.31 
     370459665 
    lizard
    (Anolis carolinensis)
    Reptilia GABBR16
    gamma-aminobutyric acid (GABA) B receptor, 1
    75(a)
    1 ↔ 1
    2(189705254-189925347)
    African clawed frog
    (Xenopus laevis)
    Amphibia CD303148.12   -- 75.29(n)    CD303148.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AY050509.12   -- 77.39(n)   373873  AY050509.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta GABA-B-R11 , 3 G-protein coupled receptor protein
    signaling pathway more3
    metabotropic GABA-B receptor subtype 11
    49(a)
    (best of 2)3
    55.85(n)1
    51.28(a)1
      35B83
    348781  NM_001259104.11  NP_001246033.11 
    worm
    (Caenorhabditis elegans)
    Secernentea gbb-11 gbb-1 52.49(n)
    46.87(a)
      189837  NM_171645.3  NP_741740.2 


    ENSEMBL Gene Tree for GABBR1 (if available)
    TreeFam Gene Tree for GABBR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GABBR1 gene
    GABBR22  GPR1562  
    1 SIMAP similar gene for GABBR1 using alignment to 9 protein entries:     GABR1_HUMAN (see all proteins):
    GABBR2

    Find genes that share paralogs with GABBR1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GABBR1 (see all 698)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2005757871,2
    --29384963(+) CCAGC-/AGTGCTGG 3 -- int10--------
    rs283838051,2
    C--29387993(+) TGATTA/-CTGCA 3 -- int12Minor allele frequency- -:0.25CSA 4
    rs287495261,2
    C--29390473(+) GCCTTA/TAAAAA 3 -- int10--------
    rs3710524251,2
    C--29391141(+) GAGGC-/GGA   
       GAATC
    GAGAA
    3 -- int10--------
    rs1996269591,2
    --29392168(+) TCTTT-/CTTTTT 3 -- int10--------
    rs283839531,2
    C--29392179(+) TTTTT-/TTT/  
      TTTTTT
    GAGAT
    6 -- int1 cds11CSA 2
    rs1490770031,2
    C--29394523(+) CCAAA-/TCCCTGTTTTCTG
    TCAGCCTCCTCTAGC
    TCCCT
    3 -- int10--------
    rs2010688631,2
    --29395753(+) CCATC-/GTTTTTTT 3 -- int10--------
    rs32155311,2
    C--29406778(-) TTTTT-/TAAAGA 2 -- int1 trp30--------
    rs754388221,2
    C--29408833(+) AGGGGG/TGTGTG 2 -- us2k11Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for GABBR1 (29523406 - 29601753 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for GABBR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv526617CNV Loss19592680
    nsv462671CNV Loss19166990
    nsv528285CNV Gain19592680
    essv18215CNV CNV17122850
    dgv1908e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): GABBR1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GABBR1
    DNA2.0 Custom Variant and Variant Library Synthesis for GABBR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603540    OMIM disorders: --

    12 diseases for GABBR1:    
    About MalaCards
    persistent vegetative state    hereditary sensory neuropathy type 1    withdrawal disorder    reflex sympathetic dystrophy
    sensory neuropathy type 1    tetanus    olivopontocerebellar atrophy    multiple sclerosis
    temporal lobe epilepsy    spasticity    seasonal affective disorder    schizophrenia

    3 diseases from the University of Copenhagen DISEASES database for GABBR1:
    Withdrawal disorder     Reflex sympathetic dystrophy     Tetanus

    Find genes that share disorders with GABBR1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for GABBR1 gene (see all 20)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    absence seizures 74.3 27 10514818 (3), 8848463 (3), 10402495 (2), 1321503 (2) (see all 16)
    alcohol withdrawal seizures 52.5 2 16800828 (1)
    epilepsy temporal lobe 48 11 18255321 (2), 15799783 (2), 16278087 (2), 18653317 (2) (see all 5)
    epilepsy, idiopathic generalized 42.3 5 10402495 (2), 9933300 (1), 9844003 (1)
    epilepsy 41.4 8 10402495 (1), 10514818 (1), 11295833 (1), 10514872 (1) (see all 8)
    alcohol withdrawal 39.7 5 8974335 (1), 18047908 (1), 16800828 (1)
    myoclonic epilepsy juvenile 24.9 4 10402495 (1), 9933300 (1)
    alcoholism 20.9 13 8974335 (3), 10412185 (3), 8974333 (1), 16800828 (1)
    tetanus 4.3 3 11436597 (1), 17691381 (1), 17370766 (1)
    mood disorders 4.06 1 8009935 (1)

    Genetic Association Database (GAD): GABBR1
    Human Genome Epidemiology (HuGE) Navigator: GABBR1 (27 documents)

    Export disorders for GABBR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GABBR1 gene, integrated from 10 sources (see all 442):
    (articles sorted by number of sources associating them with GABBR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene. (PubMed id 9753614)1, 2, 3 Grifa A.... Gasparini P. (Biochem. Biophys. Res. Commun. 1998)
    2. Human gamma-aminobutyric acid B receptor gene: complementary DNA cloning, expression, chromosomal location, and genomic organization. (PubMed id 9798068)1, 2, 3 Goei V.L....Gruen J.R. (Biol. Psychiatry 1998)
    3. Association between the gamma-aminobutyric acid type B receptor 1 and 2 gene polymorphisms and mesial temporal lobe epilepsy in a Han Chinese population. (PubMed id 18653317)1, 4, 9 Wang X....Liu Y. (Epilepsy Res. 2008)
    4. Possible association between the gamma-aminobutyric acid type B receptor 1 (GABBR1) gene and schizophrenia. (PubMed id 15820424)1, 4, 9 Zai G....Kennedy J.L. (Eur Neuropsychopharmacol 2005)
    5. Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy. (PubMed id 10402495)1, 2, 9 Sander T....Riess O. (Am. J. Med. Genet. 1999)
    6. The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures. (PubMed id 15799783)1, 4, 9 Ma S....Hedera P. (BMC Med. Genet. 2005)
    7. Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy. (PubMed id 9933300)1, 2, 9 Peters H.C.... Riess O. (Neurogenetics 1998)
    8. Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3. (PubMed id 19664746)1, 4, 9 Tse K.P....Shugart Y.Y. (Am. J. Hum. Genet. 2009)
    9. GABABR1 (G1465A) gene variation and temporal lobe epilepsy controversy: new evidence. (PubMed id 18255321)1, 4, 9 Kauffman M.A....Kochen S. (Seizure 2008)
    10. Molecular cloning of human GABABR1 and its tissue distribution. (PubMed id 9889352)1, 2, 9 Makoff A. (Brain Res. Mol. Brain Res. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2550 HGNC: 4070 AceView: GABBR1andUBD Ensembl:ENSG00000204681 euGenes: HUgn2550
    ECgene: GABBR1 Kegg: 2550 H-InvDB: GABBR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GABBR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for GABBR1 gene:
    Search GeneIP for patents involving GABBR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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