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GABRR1 Gene

protein-coding   GIFtS: 65
GCID: GC06M089887

Gamma-Aminobutyric Acid (GABA) A Receptor, Rho 1

(Previous names: gamma-aminobutyric acid (GABA) receptor, rho 1)
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(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) A Receptor, Rho 11 2     Rho 11
Gamma-Aminobutyric Acid (GABA) Receptor, Rho 11 2     BA135P14.1 (Gamma-Aminobutyric Acid (GABA) Receptor, Rho 1)2
GABA(A) Receptor Subunit Rho-12 3     GABA(A) Receptor, Rho 12
GABA(C) Receptor2 3     Gamma-Aminobutyric Acid (GABA) A Receptor, Rho-12
GABA(A) Receptor1     Gamma-Aminobutyric Acid Receptor Subunit Rho-12

External Ids:    HGNC: 40901   Entrez Gene: 25692   Ensembl: ENSG000001462767   OMIM: 1371615   UniProtKB: P240463   

Export aliases for GABRR1 gene to outside databases

Previous GC identifers: GC06M089834 GC06M089883 GC06M089944 GC06M087103


(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 GABRR1 Gene:
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)

GeneCards Summary for GABRR1 Gene:
GABRR1 (gamma-aminobutyric acid (GABA) A receptor, rho 1) is a protein-coding gene. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GLRA2.

UniProtKB/Swiss-Prot: GBRR1_HUMAN, P24046
Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by
binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Rho-1 GABA receptor could
play a role in retinal neurotransmission

summary for GABRR1 Gene:
GABAC receptors are Cys-loop ionotropic ligand-gated ion channels mediating the fast synaptic inhibitory
effects of GABA. Despite differing in physiology, biochemistry and pharmacology, GABAC receptors are viewed
as a subclass of GABAA receptors. GABAC receptors exist as both homo- and hetero-oligomeric pentamers of the
3 GABAC subunits which have so far been discovered; rho1, rho2, rho3. The resulting ion channel is not
blocked or modulated by GABAA receptor ligands, but is 10 times more sensitive to the effects of GABA and
selectively blocked by TPMPA. In addition, the GABAC receptor has a longer channel opening time and is
slower to desensitize. GABAC receptors are expressed in various brain regions and particularly high levels
are found in the retina.

Gene Wiki entry for GABRR1 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_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GABRR1 gene promoter:
         ER-alpha   AML1a   Olf-1   GATA-1   GATA-2   AREB6   CREB   MZF-1   NRF-2   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABRR1 promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GABRR1


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

Entrez Gene cytogenetic band: 6q15   Ensembl cytogenetic band:  6q15   HGNC cytogenetic band: 6q15

GABRR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRR1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M089887:  view genomic region     (about GC identifiers)

Start:
89,887,220 bp from pter      End:
89,940,997 bp from pter
Size:
53,778 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GBRR1_HUMAN, P24046 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit rho-1 precursor  
Size: 479 amino acids; 55883 Da
Subunit: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and
rho. Interacts with SQSTM1 (By similarity)
Sequence caution: Sequence=AAA52509.1; Type=Erroneous initiation; Sequence=AAI30345.1; Type=Erroneous initiation;
Secondary accessions: A1L401 B4DJK8 B4DQT5 B7ZBQ7 Q9BX06
Alternative splicing: 3 isoforms:  P24046-1   P24046-2   P24046-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GABRR1: NX_P24046

Explore proteomics data for GABRR1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn140, Asn234, Asn274
  • Modification sites at PhosphoSitePlus

  • See GABRR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001243632.1  NP_001243633.1  NP_001254511.1  NP_002033.2  

    ENSEMBL proteins: 
     ENSP00000412673   ENSP00000358463   ENSP00000410130   ENSP00000394687  
    Reactome Protein details: P24046

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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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    HGNC Gene Families:
    GABRA: Ligand-gated ion channels / GABA(A) receptors
    GABR: GABA receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: rho1
    GABAA receptors

    Selected InterPro protein domains (see all 7):
     IPR008057 GABAAa_rho_rcpt
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR008058 GABAAa_rho1_rcpt
     IPR006201 Neur_channel

    Graphical View of Domain Structure for InterPro Entry P24046

    ProtoNet protein and cluster: P24046

    4 Blocks protein domains:
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel
    IPB008057 Gamma-aminobutyric-acid A (GABAA) receptor rho subunit signature
    IPB008058 Gamma-aminobutyric-acid A (GABAA) receptor rho 1 subunit signature


    UniProtKB/Swiss-Prot: GBRR1_HUMAN, P24046
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC
    1.A.9.5) subfamily. GABRR1 sub-subfamily


    Find genes that share domains with GABRR1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: GBRR1_HUMAN, P24046
    Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by
    binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Rho-1 GABA receptor could
    play a role in retinal neurotransmission

         Genatlas biochemistry entry for GABRR1:
    gamma-aminobutyric acid (GABA) C receptor,ionotropic,rho 1,preferentially expressed in retina,subunit part of a
    trimeric receptor,mediating inhibitory neurotransmission,colocalizing with MAP1B at post synaptic sites on
    bipolar cell axon terminals

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004890GABA-A receptor activity IEA--
    GO:0005230extracellular ligand-gated ion channel activity IEA--
    GO:0005254chloride channel activity IEA--
         
    Find genes that share ontologies with GABRR1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for GABRR1:
     Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gabrr1):
     behavior/neurological  integument  nervous system  taste/olfaction  vision/eye 

    Find genes that share phenotypes with GABRR1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GABRR1: Gabrr1tm1Llu Gabrr1tm1Nsp

       genOway: Develop your customized and physiologically relevant rodent model for GABRR1

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    SwitchGear 3'UTR luciferase reporter plasmidGABRR1 3' UTR sequence
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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
    GBRR1_HUMAN, P24046: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS10779366
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0030054cell junction IEA--

    Find genes that share ontologies with GABRR1           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 GABRR1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    2Circadian entrainment
    GABAergic synapse0.53
    Retrograde endocannabinoid signaling0.51
    Morphine addiction0.53
    3Ligand-gated ion channel transport
    Ligand-gated ion channel transport
    GABA A (rho) receptor activation0.00
    4GABA receptor activation
    GABA receptor activation0.73
    5Ion channel transport
    Ion channel transport0.58


    Find genes that share SuperPaths with GABRR1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GABRR1
        Sperm Motility


    2 Reactome Pathways for GABRR1
        Ligand-gated ion channel transport
    GABA A (rho) receptor activation


    5 Kegg Pathways  (Kegg details for GABRR1):
        Neuroactive ligand-receptor interaction
    Retrograde endocannabinoid signaling
    GABAergic synapse
    Morphine addiction
    Nicotine addiction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRR1: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GABRR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for GABRR1 (P240463 ENSP000004126734) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SQSTM1Q135013, ENSP000003744554I2D: score=2 STRING: ENSP00000374455
    GABRR2P284763, ENSP000003860294I2D: score=1 STRING: ENSP00000386029
    MAP1BP468213, ENSP000002967554I2D: score=1 STRING: ENSP00000296755
    MAPK1P284823, ENSP000002158324I2D: score=1 STRING: ENSP00000215832
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS1849271
    GO:0006811ion transport ----
    GO:0007214gamma-aminobutyric acid signaling pathway TAS10779366
    GO:0007268synaptic transmission TAS--
    GO:0034220ion transmembrane transport TAS--

    Find genes that share ontologies with GABRR1           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 GABRR1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ZAPA sulfateAgonist at 'low affinity' GABAA receptor. More potent than GABA/muscimol[92138-10-8]
    THIP hydrochlorideGABAA agonist[64603-91-4]
    TPMPASelective GABAC antagonist[182485-36-5]

    2 HMDB Compounds for GABRR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Gamma-Aminobutyric acid3-Carboxypropylamine (see all 27)56-12-2--

    Selected DrugBank Compounds for GABRR1 (see all 23)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Picrotoxin-- 124-87-8targetantagonist20491873 17139284 17016423 18446586
    Lorazepam(+/-)-Lorazepam (see all 3)846-49-1targetpotentiator20138190 18384456 11752090
    Adinazolam-- 37115-32-5targetpotentiator6320036 6148400
    Chlordiazepoxide-- 58-25-3targetpotentiator18384456 11752090
    ClobazamAedon (see all 23)22316-47-8targetpotentiator18384456 11752090
    ClonazepamChlonazepam (see all 2)1622-61-3targetpotentiator18384456 11752090
    Clorazepate-- 23887-31-2targetpotentiator18384456 11752090
    Diazepam-- 439-14-5targetpotentiator18384456 11752090
    Estazolam-- 29975-16-4targetpotentiator639854 2889803
    Flurazepam-- 17617-23-1targetpotentiator18384456 11752090

    Selected IUPHAR Ligands for GABRR1 (rho1) (see all 13)    About this table
    LigandTypeActionAffinityPubmed IDs
    aza-THIP
    AntagonistAntagonist--
    TBPS
    Channel blockerNone--
    piperidine-4-sulphonic acid
    AntagonistAntagonist--
    muscimol
    AgonistPartial agonist--
    isoguvacine
    AgonistPartial agonist--
    trans-3-ACPBPA
    AntagonistAntagonist--
    cis-3-ACPBPA
    AntagonistAntagonist--
    THIP
    AntagonistAntagonist--
    5-Me-IAA
    AgonistFull agonist--
    (??)-cis-2-CAMP
    AgonistFull agonist--



    (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 GABRR1 gene (4 alternative transcripts): 
    NM_001256703.1  NM_001256704.1  NM_001267582.1  NM_002042.4  

    Unigene Cluster for GABRR1:

    Gamma-aminobutyric acid (GABA) A receptor, rho 1
    Hs.99927  [show with all ESTs]
    Unigene Representative Sequence: NM_001256704
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000454853 ENST00000369451 ENST00000457434(uc011dzw.1) ENST00000481493
    ENST00000435811(uc003pna.2 uc011dzv.1)
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    Additional mRNA sequence: 

    AK296124.1 AK298948.1 AK313609.1 BC130344.1 M62400.1 

    3 DOTS entries:

    DT.206595  DT.121408432  DT.75139798 

    Selected AceView cDNA sequences (see all 26):

    NM_002042 BM679853 BP362696 BM713762 AI701128 AA018612 BF510856 BF433967 
    AW949752 AW291504 CD672849 T29443 AW135923 BM718121 BE504024 AA317912 
    M62400 BE326459 BF433385 AW949745 BG210490 BE549935 AA018065 BG191058 

    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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    GABRR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGTAAAGGA
    GABRR1 Expression
    About this image


    GABRR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neurons
             Mature Horizontal Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Mature Horizontal Cells Inner Nuclear Layer
    GABRR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GABRR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.99927

    UniProtKB/Swiss-Prot: GBRR1_HUMAN, P24046
    Tissue specificity: Highly expressed in the retina and in a lesser extent in brain, lung and thymus

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRR1: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

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    In Situ
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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 chordates.

    Orthologs for GABRR1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabrr11 , 5 gamma-aminobutyric acid (GABA) C receptor, subunit more1, 5 87.68(n)1
    94.15(a)1
      4 (14.68 cM)5
    144081  NM_008075.21  NP_032101.31 
     331325215 
    chicken
    (Gallus gallus)
    Aves GABRR11 gamma-aminobutyric acid (GABA) receptor, rho 1 82.25(n)
    89.94(a)
      428632  XM_426190.3  XP_426190.2 
    lizard
    (Anolis carolinensis)
    Reptilia GABRR16
    gamma-aminobutyric acid (GABA) A receptor, rho 1
    90(a)
    1 ↔ 1
    1(175118557-175145253)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004979131 gamma-aminobutyric acid receptor subunit rho-1-like 75.42(n)
    85.92(a)
      100497913  XM_002940913.2  XP_002940959.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003305541 gamma-aminobutyric acid receptor subunit rho-1-like 75.2(n)
    79.73(a)
      100330554  XM_002662226.3  XP_002662272.2 


    ENSEMBL Gene Tree for GABRR1 (if available)
    TreeFam Gene Tree for GABRR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GABRR1 gene
    GLRA22  GLRA12  GLRB2  GABRB12  GABRR32  GABRD2  GLRA42  GABRP2  
    GABRB32  GABRB22  GABRQ2  GLRA32  GABRR22  
    Selected SIMAP similar genes for GABRR1 using alignment to 2 protein entries:     GBRR1_HUMAN (see all proteins) (see all similar genes):
    GABRR2    GABRR3    GABRP    GLRA4    GABRD    GABRA4
    GABRQ    DKFZp781L0846    GABRB3    GABRA5    GABRB1    GLRA2
    GLRA3    GLRA1    GABRG2    GABRA2    GABRA6    GABRB2

    Find genes that share paralogs with GABRR1           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 GABRR1 (see all 1296)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1175589711,2
    C,F--89886739(+) GAGGTG/AGGAGG 4 -- ds50011Minor allele frequency- A:0.04EA 120
    rs1177282131,2
    C,F--89886804(+) CTCTAC/GAAAAA 4 -- ds50011Minor allele frequency- G:0.01EA 120
    rs1863138491,2
    --89886805(+) TCTACA/CAAAAC 4 -- ds50010--------
    rs77594611,2
    C,F,A--89886822(+) AAATTG/AGCTGA 4 -- ds50018Minor allele frequency- A:0.50NA WA CSA EA 368
    rs1120360631,2
    C,F--89886907(+) GAGGTC/TGCAGT 4 -- ds50011Minor allele frequency- T:0.50NA 2
    rs77633211,2
    C,F,A--89886923(+) GAGATC/GGCACC 4 -- ds50016Minor allele frequency- G:0.27NA WA CSA 11
    rs77630651,2
    C,F,A--89886975(+) AAAAAA/GTAAAA 4 -- ds500111Minor allele frequency- G:0.50NA WA CSA EA 373
    rs1493727721,2
    C--89887163(+) TGTAG-/A/ATA 
            
    AATCA
    8 -- ds5001 cds10--------
    rs106235691,2
    C--89887164(+) GTAGA-/AA    
       T
    /ATA
    ATCAT
    8 -- cds10--------
    rs1501797141,2
    --89887354(+) AGATTA/GGAACC 4 -- ut310--------

    HapMap Linkage Disequilibrium report for GABRR1 (89887220 - 89940997 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GABRR1 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv3265CNV Deletion18987735
    esv2400913CNV Deletion18987734
    esv2732407CNV Deletion23290073
    esv2662166CNV Deletion23128226
    esv2479057CNV Deletion19546169
    esv9656CNV Loss19470904
    nsv886337CNV Loss21882294
    esv997828CNV Gain20482838
    esv29539CNV Gain+Loss19812545
    esv5895OTHER Inversion19470904

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GABRR1
    DNA2.0 Custom Variant and Variant Library Synthesis for GABRR1

    (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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    OMIM gene information: 137161    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for GABRR1:
    Fundus dystrophy

    Find genes that share disorders with GABRR1           About GenesLikeMe

    Genetic Association Database (GAD): GABRR1
    Human Genome Epidemiology (HuGE) Navigator: GABRR1 (8 documents)

    Export disorders for GABRR1 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 GABRR1 gene, integrated from 10 sources (see all 60):
    (articles sorted by number of sources associating them with GABRR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina. (PubMed id 1849271)1, 2, 3 Cutting G.R....Kazazian H.H. Jr. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    2. Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4. (PubMed id 1315307)1, 3, 9 Cutting G.R....Uhl G.R. (Genomics 1992)
    3. Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder. (PubMed id 20583128)1, 4 Green E.K....Craddock N. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    4. GABRR1 and GABRR2, encoding the GABA-A receptor subunits rho1 and rho2, are associated with alcohol dependence. (PubMed id 19536785)1, 4 Xuei X....Edenberg H.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    5. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    6. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. (PubMed id 19078961)1, 4 Craddock N....O'Donovan M.C. (Mol. Psychiatry 2010)
    7. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    8. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    9. Genetic linkage and radiation hybrid mapping of the three human GABA(C) receptor rho subunit genes: GABRR1, GABRR2 and GABRR3. (PubMed id 10542332)1, 9 Bailey M.E.S.... Darlison M.G. (Biochim. Biophys. Acta 1999)
    10. I9-aminobutyric acid(C) (GABAC) selective antagonists derived from the bioisosteric modification of 4-aminocyclopent-1-enecarboxylic acid: amides and hydroxamates. (PubMed id 23755849)1 Locock K.E....Allan R.D. (J. Med. Chem. 2013)

    (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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    Entrez Gene: 2569 HGNC: 4090 AceView: GABRR1 Ensembl:ENSG00000146276 euGenes: HUgn2569
    ECgene: GABRR1 Kegg: 2569 H-InvDB: GABRR1

    (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 GABRR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GABRR1 gene:
    Search GeneIP for patents involving GABRR1

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



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