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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GNB1 Gene

protein-coding   GIFtS: 66
GCID: GC01M001748

Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide...

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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)
About This Section

Aliases
Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 11 2
Transducin Beta Chain 12 3
Beta Subunit, Signal-Transducing Proteins GS/GI2
G Protein, Beta-1 Subunit2
Guanine Nucleotide-Binding Protein G(I)/G(S)/G(T) Subunit Beta-12

External Ids:    HGNC: 43961   Entrez Gene: 27822   Ensembl: ENSG000000783697   OMIM: 1393805   UniProtKB: P628733   

Export aliases for GNB1 gene to outside databases

Previous GC identifers: GC01M001274 GC01M001521 GC01M001585 GC01M001665 GC01M000993


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GNB1 Gene:
Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and
effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families
of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as
well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple
transcript variants. (provided by RefSeq, Sep 2013)

GeneCards Summary for GNB1 Gene: 
GNB1 (guanine nucleotide binding protein (G protein), beta polypeptide 1) is a protein-coding gene. Diseases associated with GNB1 include familial hemiplegic migraine, and hemiplegic migraine, and among its related super-pathways are The phototransduction cascade and G beta:gamma signalling through PLC beta. GO annotations related to this gene include GTPase binding and GTPase activity. An important paralog of this gene is GNB2.

UniProtKB/Swiss-Prot: GBB1_HUMAN, P62873
Function: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various
transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement
of GDP by GTP, and for G protein-effector interaction

summary for GNB1 Gene:
Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein
contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand-receptor binding
results in detachment of the G protein, switching it to an 'on' state and permitting Galpha activation of
second messenger signalling cascades. There are several types of Galpha proteins; in addition, some
Gbetagamma subunits have active functions. Gbetagamma coupled to H1 receptors can activate PLA2 and
Gbetagamma coupled to M1 receptors can activate KIR channels.

Gene Wiki entry for GNB1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004350.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GNB1 gene promoter:
         Sp1   AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGNB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GNB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GNB1


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

Entrez Gene cytogenetic band: 1p36.33   Ensembl cytogenetic band:  1p36.33   HGNC cytogenetic band: 1p36.33

GNB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNB1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M001748:  view genomic region     (about GC identifiers)

Start:
1,716,725 bp from pter      End:
1,822,526 bp from pter
Size:
105,802 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GBB1_HUMAN, P62873 (See protein sequence)
Recommended Name: Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1  
Size: 340 amino acids; 37377 Da
Subunit: G proteins are composed of 3 units, alpha, beta and gamma. Interacts with ARHGEF18 and RASD2. The
heterodimer formed by GNB1 and GNG2 interacts with PTH1R (via C-terminus)
1 PDB 3D structure from and Proteopedia for GNB1:
4KFM (3D)    
Secondary accessions: B1AJZ7 P04697 P04901

Explore the universe of human proteins at neXtProt for GNB1: NX_P62873

Explore proteomics data for GNB1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation at His-266 by NDKB contributes to G protein activation by increasing the high energetic phosphate
    transfer onto GDP (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P62873

  • GNB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GNB1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001269467.1  NP_001269468.1  NP_002065.1  

    ENSEMBL proteins: 
     ENSP00000367872   ENSP00000399741   ENSP00000392765   ENSP00000416651  
    Reactome Protein details: P62873
    Human Recombinant Protein Products for GNB1: 
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    Novus Biologicals GNB1 Protein
    Novus Biologicals GNB1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment ----
    GO:0001917photoreceptor inner segment IEA--
    GO:0005622intracellular ISS--
    GO:0005765lysosomal membrane IDA17897319
    GO:0005834heterotrimeric G-protein complex IDA1543505

    GNB1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    WDR: WD repeat domain containing

    5/7 InterPro protein domains (see all 7):
     IPR019775 WD40_repeat_CS
     IPR016346 Guanine_nucleotide-bd_bsu
     IPR001680 WD40_repeat
     IPR020472 G-protein_beta_WD-40_rep
     IPR001632 Gprotein_B

    Graphical View of Domain Structure for InterPro Entry P62873

    ProtoNet protein and cluster: P62873

    UniProtKB/Swiss-Prot: GBB1_HUMAN, P62873
    Similarity: Belongs to the WD repeat G protein beta family
    Similarity: Contains 7 WD repeats


    GNB1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GBB1_HUMAN, P62873
    Function: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various
    transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement
    of GDP by GTP, and for G protein-effector interaction

         Genatlas biochemistry entry for GNB1:
    guanine nucleotide binding protein (G protein),beta,polypeptide 1

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IDA1543505
    GO:0004871signal transducer activity IEA--
    GO:0005515protein binding IPI16782902
    GO:0051020GTPase binding IPI19255495
         
    GNB1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GNB1:
     Upregulation of Wnt/beta-caten 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gnb1):
     behavior/neurological  cellular  embryogenesis  mortality/aging  nervous system 
     respiratory system 

    GNB1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GNB1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GNB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GNB1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GNB1 

    miRNA
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    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate GNB1 (see all 28):
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    SwitchGear 3'UTR luciferase reporter plasmidGNB1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GNB1 About   (see all 79)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Visual signal transduction- Rods
    Visual signal transduction- Rods0.54
    Phototransduction0.46
    The phototransduction cascade0.54
    Activation of the phototransduction cascade0.38
    Inactivation, recovery and regulation of the phototransduction cascade0.51
    2Prostacyclin signalling through prostacyclin receptor
    G-protein beta:gamma signalling0.89
    Activation of Kainate Receptors upon glutamate binding0.70
    G beta:gamma signalling through PI3Kgamma0.89
    Inhibition of Insulin Secretion by Adrenaline/Noradrenaline0.61
    Prostacyclin signalling through prostacyclin receptor0.77
    Glucagon-type ligand receptors0.58
    G beta:gamma signalling through PLC beta0.77
    G-Protein Signaling through Tubby Protein0.38
    3fMLP Pathway
    CCR3 Pathway in Eosinophils0.44
    CXCR4 Pathway0.39
    VEGF and S-1P Signaling0.44
    Alpha-Adrenergic Signaling0.38
    fMLP Pathway0.43
    Signal transduction Calcium signaling0.34
    Signal transduction Activation of PKC via G-Protein coupled receptor0.42
    Huntington's Disease Pathway0.30
    4Thromboxane signalling through TP receptor
    Signal amplification0.78
    Thrombin signalling through proteinase activated receptors (PARs)0.67
    ADP signalling through P2Y purinoceptor 10.78
    Development Angiotensin signaling via beta-Arrestin0.40
    Thromboxane signalling through TP receptor0.78
    5Regulation of Water Balance by Renal Aquaporins
    Regulation of Water Balance by Renal Aquaporins0.84
    G alpha (z) signalling events0.49
    Aquaporin-mediated transport0.84
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation0.40
    Glucagon signaling in metabolic regulation0.69

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/31 EMD Millipore Pathways for GNB1 (see all 31)
        Chemotaxis CXCR4 signaling pathway
    Translation Translation regulation by Alpha-1 adrenergic receptors
    Development Activation of ERK by Alpha-1 adrenergic receptors
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
    Development A1 receptor signaling

    5/71 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GNB1 (see all 71)
        Molecular Mechanisms of Cancer
    Intracellular Calcium Signaling
    CDK5 Pathway
    JNK Pathway
    ERK5 Signaling

    5/34 GeneGo (Thomson Reuters) Pathways for GNB1 (see all 34)
        Signal transduction cAMP signaling
    G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
    G-protein signaling G-Protein alpha-i signaling cascades
    Inhibitory action of Lipoxins and Resolvin E1 on neutrophil functions
    Signal transduction Activation of PKC via G-Protein coupled receptor

    5/16 BioSystems Pathways for GNB1 (see all 16)
        Myometrial Relaxation and Contraction Pathways
    G Protein Signaling Pathways
    Estrogen signaling pathway
    Nicotine Activity on Dopaminergic Neurons
    Calcium Regulation in the Cardiac Cell

    5/55        Reactome Pathways for GNB1 (see all 55)
        G alpha (12/13) signalling events
    Platelet homeostasis
    G protein gated Potassium channels
    Visual phototransduction
    G alpha (z) signalling events

    2 PharmGKB Pathways for GNB1
        Beta-agonist/Beta-blocker Pathway, Pharmacodynamics
    Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

    5/13         Kegg Pathways  (Kegg details for GNB1) (see all 13):
        Chemokine signaling pathway
    PI3K-Akt signaling pathway
    Circadian entrainment
    Retrograde endocannabinoid signaling
    Glutamatergic synapse


    GNB1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GNB1

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

    5/97 Interacting proteins for GNB1 (P628732, 3 ENSP000003678724) via UniProtKB, MINT, STRING, and/or I2D (see all 97)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCF2P198782, 3, ENSP000003565054MINT-7135210 MINT-7135236 I2D: score=1 STRING: ENSP00000356505
    RIPK3Q9Y5722, 3MINT-49116 I2D: score=2 
    GNAI2P048992, 3, ENSP000003129994MINT-7135221 I2D: score=1 STRING: ENSP00000312999
    MAP3K3Q997592, 3, ENSP000003549274MINT-48439 I2D: score=2 STRING: ENSP00000354927
    CACNA1BQ009753, ENSP000002775494I2D: score=2 STRING: ENSP00000277549
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006112energy reserve metabolic process TAS--
    GO:0006184GTP catabolic process TAS3095147
    GO:0007165signal transduction TAS7649993
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007191adenylate cyclase-activating dopamine receptor signaling pathway ISS--

    GNB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for GNB1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    GalleinInhibitor of betagamma signaling[2103-64-2]
    Suramin hexasodium saltNon-selective P2 antagonist[129-46-4]
    G-Protein antagonist peptideInhibits G protein activation by GPCRs[143675-79-0]
    8-Bromo-cGMP, sodium salt cGMP analog; activates PKG[51116-01-9]
    Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt [70323-44-3]

    3 HMDB Compounds for GNB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    1 DrugBank Compound for GNB1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    FARNESYL-- --target--10592235

    Search CenterWatch for drugs/clinical trials and news about GNB1 / GBB1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GNB1 gene (3 alternative transcripts): 
    NM_001282538.1  NM_001282539.1  NM_002074.4  

    Unigene Cluster for GNB1:

    Guanine nucleotide binding protein (G protein), beta polypeptide 1
    Hs.430425  [show with all ESTs]
    Unigene Representative Sequence: NM_002074
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378609(uc001aif.3 uc009vky.3) ENST00000461893 ENST00000471354
    ENST00000439272 ENST00000434686 ENST00000437146 ENST00000607589 ENST00000472614


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    GenScript: all cDNA clones in your preferred vector: GNB1 (NM_002074)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNB1
    Sirion Biotech Customized lentivirus for stable overexpression of GNB1 
                         Customized lentivirus expression plasmids for stable overexpression of GNB1 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GNB1

    Additional mRNA sequence: 

    AF070597.1 AF070603.1 AF501882.1 AK096614.1 AK122949.1 AK312614.1 BC004186.2 BC005888.2 
    BC008991.1 BC114618.1 BT007305.1 CR456784.1 M36430.1 

    24/45 DOTS entries (see all 45):

    DT.454208  DT.100888224  DT.100039426  DT.92016370  DT.92411260  DT.100888249  DT.121355192  DT.100888223 
    DT.40275341  DT.121355210  DT.121355194  DT.120545  DT.436291  DT.75121609  DT.100888219  DT.97765262 
    DT.95169843  DT.100039424  DT.100888221  DT.121355278  DT.121355345  DT.91776167  DT.91831230  DT.95072649 

    24/1164 AceView cDNA sequences (see all 1164):

    CB108052 CB306285 BU630353 BU681942 BU624537 BQ019094 BU186462 BE857618 
    BM668653 BM809233 BQ639474 BQ027213 BM772588 F08694 BM669608 CR595196 
    AA380614 AA937799 CA314476 BM784884 AI955999 H78751 BG419079 N25713 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for GNB1 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b
    SP1:              -     -                 -                                                                                                         
    SP2:                                                                                -     -                             -           -               
    SP3:                                                                                -     -                             -                           
    SP4:                                                                                                                    -           -               
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for GNB1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GNB1 expression in normal human tissues (normalized intensities)      GNB1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTAGAAAT
    GNB1 Expression
    About this image


    GNB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/16 selected tissues (see all 16) fully expand
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 3 entries
             small intestine ; glandular cells   
             ileum   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             seminal vesicle ; glandular cells   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             kidney ; cells in tubules   

    See GNB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GNB1

    SOURCE GeneReport for Unigene cluster: Hs.430425
        SABiosciences Expression via Pathway-Focused PCR Array including GNB1: 
              Alzheimer's Disease 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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for GNB1 gene from 8/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gnb11 , 5 guanine nucleotide binding protein (G protein), beta more1, 5 90.2(n)1
    100(a)1
      4 (86.17 cM)5
    146881  NM_001160016.11  NP_001153488.11 
     1554913645 
    chicken
    (Gallus gallus)
    Aves GNB11 guanine nucleotide binding protein (G protein), beta more 81.95(n)
    97.23(a)
      419402  NM_001012835.1  NP_001012853.1 
    lizard
    (Anolis carolinensis)
    Reptilia GNB16
    Uncharacterized protein
    81(a)
    1 ↔ 1
    GL344230.1(23295-44057)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.48402 X.laevis mRNA for beta 1 subunit of heterotrimeric more 83.96(n)    X86969.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC056708.12   -- 87.17(n)    BC056708.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta G&bgr;13F3
    Gbeta13F1
    G-protein coupled receptor protein
    signaling pathway more3
    G protein beta-subunit 13F1
    83(a)
    (best of 2)3
    70.39(n)1
    83.53(a)1
      13F163
    325441  NM_206739.11  NP_996462.11 
    worm
    (Caenorhabditis elegans)
    Secernentea gpb-11 , 3 guanine nucleotide-binding protein beta
    subunit3
    Protein GPB-11
    85(a)3
    70.2(n)1
    85.88(a)1
      II(11743881-11747549)3
    1748031  NM_064107.61  NP_496508.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes STE46
    G protein beta subunit, forms a dimer with Ste18p ...
    32(a)
    1 → many
    XV(742910-744181)


    ENSEMBL Gene Tree for GNB1 (if available)
    TreeFam Gene Tree for GNB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GNB1 gene
    GNB22  GNB32  WDR472  GNB52  GNB42  
    7 SIMAP similar genes for GNB1 using alignment to 6 protein entries:     GBB1_HUMAN (see all proteins):
    GNB2    GNB3    GNB4    GNB5    NLE1    SNRNP40
    WDSUB1

    GNB1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2282 SNPs in GNB1 are shown (see all 2282)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1906248531,2
    C--1716228(+) AGTGGA/GTGGTT 1 -- ds50010--------
    rs1148852571,2
    F--1716414(+) GGAGGG/AAAATG 1 -- ds50011Minor allele frequency- A:0.07WA 118
    rs1159983121,2
    F--1716418(+) GGAAAT/AGGCAG 1 -- ds50011Minor allele frequency- A:0.07WA 118
    rs1163101951,2
    F--1716421(+) AATGGC/GAGAGG 1 -- ds50011Minor allele frequency- G:0.07WA 118
    rs729090691,2
    C,F--1716531(+) CTGCTG/AGCCTG 1 -- ds50013Minor allele frequency- A:0.05WA 122
    rs1495244231,2
    --1716565(+) CCTCCA/GAGGAG 1 -- ds50010--------
    rs1822359421,2
    --1716607(+) GTGGCA/GGCCAT 1 -- ds50010--------
    rs1386457891,2
    --1716637(+) AGGCCC/TGTCAG 1 -- ds50010--------
    rs1168093711,2
    F--1716678(+) GCGGGC/TGCGTT 1 -- ds50011Minor allele frequency- T:0.01WA 118
    rs1860269421,2
    C--1716679(+) CGGGCA/GCGTTG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for GNB1 (1716725 - 1822526 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/22 variations for GNB1 (see all 22):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2750029CNV Deletion23290073
    esv2666680CNV Deletion23128226
    esv2619193CNV Deletion19546169
    esv2658596CNV Deletion23128226
    nsv482957CNV Loss15286789
    nsv871204CNV Loss21882294
    nsv834335CNV Loss17160897
    nsv871954CNV Loss21882294
    nsv871560CNV Loss21882294
    dgv34n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 139380    OMIM disorders: --

    20/21 diseases for GNB1 (see all 21):    About MalaCards
    familial hemiplegic migraine    hemiplegic migraine    autosomal recessive nonsyndromic deafness    nonsyndromic deafness
    migraine    agammaglobulinemia    retinitis pigmentosa    retinitis
    thrombosis    huntington's disease    asthma    schizophrenia
    neuroblastoma    hypoxia    colorectal cancer    hepatocellular carcinoma
    melanoma    alzheimer's disease    endotheliitis    breast cancer


    GNB1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for GNB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinitis pigmentosa 58.3 1 17167406 (1)

    Genetic Association Database (GAD): GNB1
    Human Genome Epidemiology (HuGE) Navigator: GNB1 (3 documents)

    Export disorders for GNB1 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)
    About This Section

    PubMed articles for GNB1 gene, integrated from 9 sources (see all 129):
    (articles sorted by number of sources associating them with GNB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa. (PubMed id 17167406)1, 4, 9 Mylvaganam G.H....Dryja T.P. (2006)
    2. The cationic region of Rhes mediates its interactions with specific Gbeta subunits. (PubMed id 19255495)1, 2 Hill C....Davey J. (2009)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. G Protein betagamma subunits stimulate p114RhoGEF, a guanine nucleotide exchange factor for RhoA and Rac1: regulation of cell shape and reactive oxygen species production. (PubMed id 14512443)1, 2 Niu J.... Voyno-Yasenetskaya T. (2003)
    5. Beta-subunits of the human liver Gs/Gi signal-transducing proteins and those of bovine retinal rod cell transducin are identical. (PubMed id 3095147)1, 2 Codina J.... Birnbaumer L. (1986)
    6. Association of the Asn306Ser variant of the SP4 trans cription factor and an intronic variant in the beta-subunit of transducin with digenic disease. (PubMed id 17356515)1, 9 Gao Y.Q....Farber D.B. (2007)
    7. Selection of Phototransduction Genes in Homo sapiens. (PubMed id 23868983)1 Christopher M....Abramoff M.D. (2013)
    8. Interaction of G-protein bg complex with chromatin mod ulates GPCR-dependent gene regulation. (PubMed id 23326349)1 Bhatnagar A....Karnik S.S. (2013)
    9. Novel, gel-free proteomics approach identifies RNF5 an d JAMP as modulators of GPCR stability. (PubMed id 23798571)1 Roy S.J....Parent J.L. (2013)
    10. Guanine nucleotide binding protein b 1: a novel transd uction protein with a possible role in human breast cancer. (PubMed id 23603342)1 Wazir U....Mokbel K. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2782 HGNC: 4396 AceView: GNB1 Ensembl:ENSG00000078369 euGenes: HUgn2782
    ECgene: GNB1 Kegg: 2782 H-InvDB: GNB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GNB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GNB1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GNB1 gene:
    Search GeneIP for patents involving GNB1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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