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GBP1 Gene

protein-coding   GIFtS: 63
GCID: GC01M089517

Guanylate Binding Protein 1, Interferon-Inducible

(Previous names: guanylate binding protein 1, interferon-inducible, 67kDa)
Microbiology & Infectious Diseases Congress
  See 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
Guanylate Binding Protein 1, Interferon-Inducible1 2     GTP-Binding Protein 12 3
Guanylate Binding Protein 1, Interferon-Inducible, 67kDa1 2     huGBP-12
Guanine Nucleotide-Binding Protein 12 3     Interferon-Induced Guanylate-Binding Protein 12
GBP-12 3     HuGBP-13

External Ids:    HGNC: 41821   Entrez Gene: 26332   Ensembl: ENSG000001172287   OMIM: 6004115   UniProtKB: P324553   

Export aliases for GBP1 gene to outside databases

Previous GC identifers: GC01M089994 GC01M088687 GC01M088854 GC01M088985 GC01M088986 GC01M089230 GC01M089290 GC01M087635


(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 GBP1 Gene:
Guanylate binding protein expression is induced by interferon. Guanylate binding proteins are characterized by
their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP) and are distinguished from the
GTP-binding proteins by the presence of 2 binding motifs rather than 3. (provided by RefSeq, Jul 2008)

GeneCards Summary for GBP1 Gene:
GBP1 (guanylate binding protein 1, interferon-inducible) is a protein-coding gene. Diseases associated with GBP1 include pseudopseudohypoparathyroidism, and chronic active epstein-barr virus infection. GO annotations related to this gene include GTPase activity and identical protein binding. An important paralog of this gene is GBP6.

UniProtKB/Swiss-Prot: GBP1_HUMAN, P32455
Function: Hydrolyzes GTP to GMP in two consecutive cleavage reactions. Exhibits antiviral activity against
influenza virus. Promote oxidative killing and deliver antimicrobial peptides to autophagolysosomes, providing
broad host protection against different pathogen classes

Gene Wiki entry for GBP1 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:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GBP1 gene promoter:
         CREB   POU2F1   AML1a   POU2F1a   deltaCREB   IRF-1   LCR-F1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGBP1 promoter sequence
   Search Chromatin IP Primers for GBP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GBP1


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

Entrez Gene cytogenetic band: 1p22.2   Ensembl cytogenetic band:  1p22.2   HGNC cytogenetic band: 1p22.2

GBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GBP1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M089517:  view genomic region     (about GC identifiers)

Start:
89,517,987 bp from pter      End:
89,531,043 bp from pter
Size:
13,057 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GBP1_HUMAN, P32455 (See protein sequence)
Recommended Name: Interferon-induced guanylate-binding protein 1 precursor  
Size: 592 amino acids; 67931 Da
Subunit: Homodimerizes upon GTP-binding, dimerization is required for the second hydrolysis step from GDP to GMP.
Can also heterodimerize with other members of the family
6 PDB 3D structures from and Proteopedia for GBP1:
1DG3 (3D)        1F5N (3D)        2B8W (3D)        2B92 (3D)        2BC9 (3D)        2D4H (3D)    
Secondary accessions: D3DT26 Q5T8M1

Explore the universe of human proteins at neXtProt for GBP1: NX_P32455

Explore proteomics data for GBP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GBP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002044.2  
    ENSEMBL proteins: 
     ENSP00000359504  
    Reactome Protein details: P32455

    GBP1 Human Recombinant Protein Products:

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    Novus Biologicals GBP1 Protein
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    GBP1 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for GBP1

    GBP1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GBP1
    Cloud-Clone Corp. CLIAs for GBP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR015894 Guanylate-bd_N
     IPR027417 P-loop_NTPase
     IPR003191 Guanylate-bd_C

    Graphical View of Domain Structure for InterPro Entry P32455

    ProtoNet protein and cluster: P32455

    1 Blocks protein domain: IPB003191 Guanylate-binding protein

    UniProtKB/Swiss-Prot: GBP1_HUMAN, P32455
    Similarity: Belongs to the GBP family


    GBP1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GBP1_HUMAN, P32455
    Function: Hydrolyzes GTP to GMP in two consecutive cleavage reactions. Exhibits antiviral activity against
    influenza virus. Promote oxidative killing and deliver antimicrobial peptides to autophagolysosomes, providing
    broad host protection against different pathogen classes
    Induction: By IFNG/IFN-gamma during macrophage activation, and by TNF-alpha and IL-1beta

         Genatlas biochemistry entry for GBP1:
    guanylate binding protein 1,67kDa,interferon inducibleGTPase converting GTP to GMP,mediating an antiviral effect
    against stomatites virus and encephalomyocarditis virus

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005525GTP binding IEA--
    GO:0042802identical protein binding IPI--
         
    GBP1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for GBP1:
     Decreased DCP1a protein expres  Decreased Wnt reporter activit  Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gbp2):
     immune system  mortality/aging 

    GBP1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GBP1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GBP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GBP1

    miRNA
    Products:
        
    miRTarBase miRNAs that target GBP1:
    hsa-mir-124-3p (MIRT022397)

    Block miRNA regulation of human, mouse, rat GBP1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate GBP1:
    hsa-miR-532-5p
    SwitchGear 3'UTR luciferase reporter plasmidGBP1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GBP1
    Predesigned siRNA for gene silencing in human, mouse, rat GBP1

    Gene Editing
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    OriGene clones in human, mouse for GBP1 (see all 7)
    OriGene ORF clones in mouse, rat for GBP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GBP1 (NM_002053)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GBP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GBP1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for GBP1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBP1


    (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
    GBP1_HUMAN, P32455: Cytoplasm. Golgi apparatus membrane; Lipid-anchor; Cytoplasmic side. Secreted. Note=Secreted
    from endothelial cells in the cerebrospinal fluid, upon bacterial challenge and independently of interferon-gamma
    induction. Golgi membrane localization requires isoprenylation and the presence of another IFN-gamma-induced
    factor
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    golgi apparatus5
    cytosol4
    cytoskeleton1
    endoplasmic reticulum1
    nucleus1
    peroxisome1
    vacuole1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005576extracellular region IEA--
    GO:0005829cytosol TAS--

    GBP1 for ontologies           About GeneDecksing


    (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 GBP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Interferon Signaling
    Interferon Signaling0.59
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.59
    2Type II interferon signaling (IFNG)
    Type II interferon signaling (IFNG)

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for GBP1
        Type II interferon signaling (IFNG)


    1 Reactome Pathway for GBP1
        Interferon gamma signaling



    GBP1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GBP1: 
              Type I Interferon Response in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GBP1

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

    Selected Interacting proteins for GBP1 (P324551, 2, 3 ENSP000003595044) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GBP1P324551, 2EBI-2869161,EBI-2869161 MINT-8375120 MINT-8375135 MINT-8375104
    FNTAP493543, ENSP000003034234I2D: score=2 STRING: ENSP00000303423
    FNTBP493563, ENSP000002461664I2D: score=2 STRING: ENSP00000246166
    B2MENSP000003408584STRING: ENSP00000340858
    CD44ENSP000002783854STRING: ENSP00000278385
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0019221cytokine-mediated signaling pathway TAS--
    GO:0051607defense response to virus IEA--
    GO:0060333interferon-gamma-mediated signaling pathway TAS--

    GBP1 for ontologies           About GeneDecksing



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GBP1

    1 HMDB Compound for GBP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    4 Novoseek inferred chemical compound relationships for GBP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanylate 82 34 19150356 (3), 11397834 (2), 16005050 (2), 18697840 (2) (see all 16)
    gdp 63 2 19150356 (1)
    gtp 59 9 16873363 (2), 10970849 (2), 10493878 (1), 15504415 (1) (see all 5)
    guanine 27.5 1 15024646 (1)



    GBP1 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GBP1 gene: 
    NM_002053.2  

    Unigene Cluster for GBP1:

    Guanylate binding protein 1, interferon-inducible
    Hs.62661  [show with all ESTs]
    Unigene Representative Sequence: AB208912
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370473(uc001dmx.2) ENST00000484970 ENST00000479889 ENST00000468959
    ENST00000495131 ENST00000459831 ENST00000493139 ENST00000469194
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat GBP1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate GBP1:
    hsa-miR-532-5p
    SwitchGear 3'UTR luciferase reporter plasmidGBP1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for GBP1
    Predesigned siRNA for gene silencing in human, mouse, rat GBP1
    Clone
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    OriGene ORF clones in mouse, rat for GBP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GBP1 (NM_002053)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GBP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GBP1
    Primer
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    OriGene qPCR primer pairs and template standards for GBP1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat GBP1
      QuantiTect SYBR Green Assays in human, mouse, rat GBP1
      QuantiFast Probe-based Assays in human, mouse, rat GBP1

    Additional mRNA sequence: 

    AB208912.1 AK291783.1 AK298032.1 AK303893.1 AY920436.1 BC002666.2 BT006847.1 M55542.1 

    17 DOTS entries:

    DT.95149703  DT.102821184  DT.417584  DT.65288476  DT.95313748  DT.70105328  DT.95313794  DT.91774442 
    DT.121364006  DT.95313795  DT.100814944  DT.121364031  DT.121364044  DT.121364154  DT.91650955  DT.91774439 
    DT.91774443 

    Selected AceView cDNA sequences (see all 218):

    AA296485 AU076806 CA395856 CR591787 BM855543 AA372968 BF058809 BQ711324 
    CD366684 BE219773 AV656523 BX282337 CD742546 CB529723 BX490249 AI457510 
    AV656915 BC002666 BP365927 BF446717 BP362266 BP337045 BX505942 AI700268 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GBP1 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for GBP1

    (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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    GBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCAGGAGTA
    GBP1 Expression
    About this image


    GBP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Adult Endothelial Cells Blood Brain Barrier
             Thalamus
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 3 entries
             Epiblast Cells Epiblast
             Epiblast Stem Cell line 5
             Epiblast-like cells
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Fibroblasts
             Mature Cardiac Fibroblasts Myocardium
             Detroit 551
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             T Helper Cells Thymus
    GBP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GBP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.62661
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GBP1: 
              Type I Interferon Response in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GBP1
    OriGene qSTAR qPCR primer pairs in human, mouse for GBP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat GBP1
    QuantiTect SYBR Green Assays in human, mouse, rat GBP1
    QuantiFast Probe-based Assays in human, mouse, rat GBP1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBP1

    (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 GBP1 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gbp25 guanylate binding protein 2   --   3 (66.69 cM) 142620602 
    chicken
    (Gallus gallus)
    Aves GBP71 guanylate binding protein 7 59.46(n)
    49.61(a)
      429696  XM_427251.4  XP_427251.4 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.100682 Transcribed sequence with weak similarity to protein more 76.28(n)    142009081 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-209n20.11 si:ch211-209n20.1 59.24(n)
    54.89(a)
      100322630  XM_002660863.3  XP_002660909.3 


    ENSEMBL Gene Tree for GBP1 (if available)
    TreeFam Gene Tree for GBP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GBP1 gene
    GBP62  GBP52  GBP32  GBP42  GBP22  GBP72  
    7 SIMAP similar genes for GBP1 using alignment to 1 protein entry:     GBP1_HUMAN:
    GBP3    GBP2    FLJ00401    GBP5    GBP4    GBP7
    GBP6

    GBP1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GBP1
    PGOHUM00000244789


    (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 GBP1 (see all 483)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs720542201,2
    C--87637693(+) AACAG-/AAAAAC
            
    AGAAA
    1 -- int10--------
    rs1433702711,2
    --89517513(+) AAAGCA/GATTAG 1 -- ds50010--------
    rs1471420351,2
    C--89517537(+) ATTAAC/TGTGGA 1 -- ds50010--------
    rs1841102641,2
    --89517644(+) ATATGA/TTTTTT 1 -- ds50010--------
    rs1872831811,2
    --89517666(+) TAACAA/CAATGC 1 -- ds50010--------
    rs75159731,2
    C,F,A--89517727(+) TATGGC/TTTATG 1 -- ds50018Minor allele frequency- T:0.25NA CSA WA EA 368
    rs101587721,2
    C,H--89517728(+) atggcT/Gtatgg 1 -- ds50014Minor allele frequency- G:0.00NS EA 418
    rs1443261511,2
    --89517777(+) ATAGCC/GACACC 1 -- ds50010--------
    rs66758661,2
    C,F,A,H--89517810(+) GGCTGC/TGTTTG 1 -- ds500121Minor allele frequency- T:0.29NS EA NA WA CSA 2211
    rs794395921,2
    F--89517824(+) TACATG/ACAGAG 1 -- ds50011Minor allele frequency- A:0.03NA 120

    HapMap Linkage Disequilibrium report for GBP1 (89517987 - 89531043 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GBP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33356CNV Loss17666407
    dgv68e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GBP1
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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.)
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    OMIM gene information: 600411    OMIM disorders: --

    Selected diseases for GBP1 (see all 23):    
    About MalaCards
    pseudopseudohypoparathyroidism    chronic active epstein-barr virus infection    aneurysmal bone cysts    pseudohypoparathyroidism
    bacterial meningitis    kaposi's sarcoma    meningitis    stomatitis
    oral cancer    labyrinthitis    intrahepatic cholangiocarcinoma    cholangiocarcinoma
    sarcoma    influenza    multiple sclerosis    endotheliitis
    hepatitis b    colorectal cancer    squamous cell carcinoma    thyroiditis


    GBP1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    4 Novoseek inferred disease relationships for GBP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kaposi sarcoma 30.2 1 11598000 (1)
    necrosis 3.61 3 14741045 (2), 18260761 (1)
    inflammation 0.997 2 18697200 (1), 19079332 (1)
    tumors 0.501 5 16028104 (2), 17202376 (1), 18260761 (1)

    Genetic Association Database (GAD): GBP1
    Human Genome Epidemiology (HuGE) Navigator: GBP1 (2 documents)

    Export disorders for GBP1 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 GBP1 gene, integrated from 10 sources (see all 71):
    (articles sorted by number of sources associating them with GBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The interferon-inducible GBP1 gene: structure and mapping to human chromosome 1. (PubMed id 7518790)1, 3, 9 Strehlow I....Decker T. (Gene 1994)
    2. Human guanylate binding protein-1 is a secreted GTPase present in increased concentrations in the cerebrospinal fluid of patients with bacterial meningitis. (PubMed id 16936281)1, 2, 9 Naschberger E.... Sturzl M. (Am. J. Pathol. 2006)
    3. Golgi targeting of human guanylate-binding protein-1 requires nucleotide binding, isoprenylation, and an IFN-gamma-inducible cofactor. (PubMed id 15937107)1, 2, 9 Modiano N.... Cresswell P. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    4. Prenylation of an interferon-gamma-induced GTP-binding protein: the human guanylate binding protein, huGBP1. (PubMed id 8830800)1, 2, 9 Nantais D.E.... Buss J.E. (J. Leukoc. Biol. 1996)
    5. Structure of human guanylate-binding protein 1 representing a unique class of GTP-binding proteins. (PubMed id 10676968)1, 2, 9 Prakash B.... Herrmann C. (Nature 2000)
    6. Intracellular trafficking of guanylate-binding proteins is regulated by heterodimerization in a hierarchical manner. (PubMed id 21151871)1, 2 Britzen-Laurent N.... Sturzl M. (PLoS ONE 2010)
    7. Genetic polymorphisms, their allele combinations and IFN-beta treatment response in Irish multiple sclerosis patients. (PubMed id 19604093)1, 4 O'Doherty C....Vandenbroeck K. (Pharmacogenomics 2009)
    8. How guanylate-binding proteins achieve assembly-stimulated processive cleavage of GTP to GMP. (PubMed id 16511497)1, 2 Ghosh A.... Herrmann C. (Nature 2006)
    9. 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. (Genome Res. 2004)
    10. Interferon-induced guanylate-binding proteins lack an N(T)KXD consensus motif and bind GMP in addition to GDP and GTP. (PubMed id 1715024)1, 2 Cheng Y.-S.E.... Staeheli P. (Mol. Cell. Biol. 1991)

    (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: 2633 HGNC: 4182 AceView: GBP1 Ensembl:ENSG00000117228 euGenes: HUgn2633
    ECgene: GBP1 H-InvDB: GBP1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for GBP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GBP1 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

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    Patent Information for GBP1 gene:
    Search GeneIP for patents involving GBP1

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



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