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ENSG00000237112 Gene

protein-coding   GIFtS: 17
GCID: GC06Mk29524          (predicted)

ENSG00000237112


  Search for ENSG00000237112
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
GABA-B-R13
GABA-BR13
GABABR13
GPRC3A3
Gb13
GABA-B Receptor 13

External Ids:    Ensembl: ENSG000002371127   UniProtKB: Q9UBS53   

Export aliases for ENSG00000237112 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ENSG00000237112 Gene:
ENSG00000237112 is a protein-coding gene.

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




(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for ENSG00000237112
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENSG00000237112


Genomic Location:
Chromosome:6   

Ensembl cytogenetic band:  HSCHR6_MHC_DBBp22.1   

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06Mk29524:       (about GC identifiers)

Start:
29,523,343 bp from start of contig ALT_REF_LOCI_3      End:
29,600,923 bp from start of contig ALT_REF_LOCI_3
Size:
77,581 bases      Orientation:
minus strand

(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 ENSG00000237112 (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 ENSG00000237112: NX_Q9UBS5

Explore proteomics data for ENSG00000237112 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ENSG00000237112 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000391572   ENSP00000411286   ENSP00000394528   ENSP00000399318   ENSP00000448654  
    Reactome Protein details: Q9UBS5

    ENSG00000237112 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR028082 Peripla_BP_I
     IPR002455 GPCR_3_GABA_rcpt_B
     IPR017978 GPCR_3_C
     IPR000436 Sushi_SCR_CCP
     IPR002456 GPCR_3_GABA_rcpt_B1

    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 ENSG00000237112           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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity ----
    GO:0004965G-protein coupled GABA receptor activity ----
    GO:0005515protein binding ----
         
    Find genes that share ontologies with ENSG00000237112           About GenesLikeMe


    Animal Models:
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    (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)

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005737cytoplasm ----
    GO:0005886plasma membrane ----
    GO:0005887integral component of plasma membrane ----
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with ENSG00000237112           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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    Find genes that share SuperPaths with ENSG00000237112           About GenesLikeMe

    Pathways by sourceSee SuperPaths
    Show all pathways


    5 Reactome Pathways for ENSG00000237112
        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


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ENSG00000237112
    Interactions:

        Search GeneGlobe Interaction Network for ENSG00000237112

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ENSG00000237112 (Q9UBS51, 2, 3 ENSP000004112864) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NSFP464591, 2, 3, ENSP000003812934EBI-724156,EBI-712251 MINT-2793384 MINT-2793111 MINT-2793092 I2D: score=2 STRING: ENSP00000381293
    ABL1P005192, 3, ENSP000003614234MINT-8110395 I2D: score=3 STRING: ENSP00000361423
    PIK3R1P279862, 3, ENSP000002743354MINT-8112003 I2D: score=3 STRING: ENSP00000274335
    MAXP612441, 3EBI-724156,EBI-751711 I2D: score=1 
    GABBR2O758992, 3, ENSP000002594554MINT-2793358 I2D: score=4 STRING: ENSP00000259455
    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 ----
    GO:0007194negative regulation of adenylate cyclase activity ----
    GO:0007214gamma-aminobutyric acid signaling pathway ----
    GO:0007268synaptic transmission ----

    Find genes that share ontologies with ENSG00000237112           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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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ENSG00000237112 (GABR1)



    (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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    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000417759(uc011fsm.2) ENST00000425097(uc011fsq.2 uc011fsr.2 uc011fss.2)
    ENST00000446436(uc011fsp.2) ENST00000443440 ENST00000471103 ENST00000497560
    ENST00000493150 ENST00000466282(uc011fst.1) ENST00000475099 ENST00000481954
    ENST00000492358 ENST00000472409 ENST00000551140
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    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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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    ENSG00000237112 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENSG00000237112 Protein Expression

    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

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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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    ENSEMBL Gene Tree for ENSG00000237112 (if available)
    TreeFam Gene Tree for ENSG00000237112 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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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    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ENSG00000237112

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

    (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 ENSG00000237112 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with ENSG00000237112)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural mechanism of ligand activation in human GABA(B) receptor. (PubMed id 24305054)2 Geng Y.... Fan Q.R. (Nature 2013)
    2. Structure and functional interaction of the extracellular domain of human GABA(B) receptor GBR2. (PubMed id 22660477)2 Geng Y....Fan Q.R. (Nat. Neurosci. 2012)
    3. Direct detection of the interaction between recombinant soluble extracellular regions in the heterodimeric metabotropic gamma- aminobutyric acid receptor. (PubMed id 18165688)2 Nomura R.... Jingami H. (J. Biol. Chem. 2008)
    4. Subcellular distribution of GABA(B) receptor homo- and hetero- dimers. (PubMed id 15617512)2 Villemure J.F....Bouvier M. (Biochem. J. 2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Marlin-1, a novel RNA-binding protein associates with GABA receptors. (PubMed id 14718537)2 Couve A.... Moss S.J. (J. Biol. Chem. 2004)
    7. An unappreciated role for RNA surveillance. (PubMed id 14759258)2 Hillman R.T.... Brenner S.E. (Genome Biol. 2004)
    8. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (Nature 2003)
    9. Characterization of gamma-aminobutyric acid receptor GABAB(1e), a GABAB(1) splice variant encoding a truncated receptor. (PubMed id 10906333)2 Schwarz D.A....Maki R.A. (J. Biol. Chem. 2000)
    10. Coexpression of full-length gamma-aminobutyric acid(B) (GABA(B)) receptors with truncated receptors and metabotropic glutamate receptor 4 supports the GABA(B) heterodimer as the functional receptor. (PubMed id 10773016)2 Sullivan R.... Ng G.Y.K. (J. Pharmacol. Exp. Ther. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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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    Ensembl:ENSG00000237112

    (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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      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ENSG00000237112 gene:
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    (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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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