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GBF1 Gene

protein-coding   GIFtS: 65
GCID: GC10P103995

Golgi Brefeldin A Resistant Guanine Nucleotide Exchange...

(Previous name: golgi-specific brefeldin A resistance factor 1)
  Search for GBF1
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
Golgi Brefeldin A Resistant Guanine Nucleotide Exchange Factor 11 2
BFA-Resistant GEF 12 3
Golgi-Specific Brefeldin A Resistance Factor 11
ARF1GEF2
Golgi-Specific Brefeldin A-Resistance Guanine Nucleotide Exchange Factor 12
KIAA02483

External Ids:    HGNC: 41811   Entrez Gene: 87292   Ensembl: ENSG000001078627   OMIM: 6036985   UniProtKB: Q925383   

Export aliases for GBF1 gene to outside databases

Previous GC identifers: GC10P102898 GC10P103238 GC10P104136 GC10P103669 GC10P097637


(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 GBF1 Gene:
This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor
that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is
localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor
1. The encoded protein has also been identified as an important host factor for viral replication. Multiple
transcript variants have been observed for this gene. (provided by RefSeq, Dec 2010)

GeneCards Summary for GBF1 Gene:
GBF1 (golgi brefeldin A resistant guanine nucleotide exchange factor 1) is a protein-coding gene. GO annotations related to this gene include ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is PSD3.

UniProtKB/Swiss-Prot: GBF1_HUMAN, Q92538
Function: Promotes guanine-nucleotide exchange on ARF5. Promotes the activation of ARF5 through replacement of GDP
with GTP (By similarity)

Gene Wiki entry for GBF1 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_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GBF1 gene promoter:
         CREB   PPAR-alpha   C/EBPbeta   POU3F1   HOXA5   deltaCREB   c-Myb   NF-AT   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GBF1 promoter sequence
   Search Chromatin IP Primers for GBF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GBF1


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

Entrez Gene cytogenetic band: 10q24   Ensembl cytogenetic band:  10q24.32   HGNC cytogenetic band: 10q24

GBF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GBF1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P103995:  view genomic region     (about GC identifiers)

Start:
104,005,255 bp from pter      End:
104,142,656 bp from pter
Size:
137,402 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GBF1_HUMAN, Q92538 (See protein sequence)
Recommended Name: Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1  
Size: 1859 amino acids; 206446 Da
Subunit: Interacts with poliovirus protein 3A
Sequence caution: Sequence=BAA13379.2; Type=Erroneous initiation;
Secondary accessions: Q5VXX3 Q96CK6 Q96HZ3 Q9H473

Explore the universe of human proteins at neXtProt for GBF1: NX_Q92538

Explore proteomics data for GBF1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys953
  • Modification sites at PhosphoSitePlus

  • See GBF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001186307.1  NP_001186308.1  NP_004184.1  

    ENSEMBL proteins: 
     ENSP00000359000  
    Reactome Protein details: Q92538

    GBF1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for GBF1

     
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    Search eBioscience for ELISAs for GBF1 


    (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:
     IPR023394 Sec7_alpha_orthog
     IPR000904 Sec7_dom
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q92538

    ProtoNet protein and cluster: Q92538

    1 Blocks protein domain: IPB000904 SEC7-like domain

    UniProtKB/Swiss-Prot: GBF1_HUMAN, Q92538
    Similarity: Contains 1 SEC7 domain


    Find genes that share domains with GBF1           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: GBF1_HUMAN, Q92538
    Function: Promotes guanine-nucleotide exchange on ARF5. Promotes the activation of ARF5 through replacement of GDP
    with GTP (By similarity)
    Enzyme regulation: Inhibited by brefeldin A (By similarity)

         Genatlas biochemistry entry for GBF1:
    Golgi specific brefeldin A resistance factor,housekeeping gene,predominantly expressed in testis and pancreas,Sec7
    domain family

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005086ARF guanyl-nucleotide exchange factor activity IBA--
    GO:0005488binding ----
    GO:0005515protein binding IPI19039328
         
    Find genes that share ontologies with GBF1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for GBF1:
     Increased G1 DNA content 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gbf1):
     integument  mortality/aging 

    Find genes that share phenotypes with GBF1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GBF1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GBF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GBF1

    miRNA
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    hsa-mir-193b-3p (MIRT016484), hsa-mir-7-5p (MIRT025834), hsa-let-7f-5p (MIRT051381), hsa-let-7a-5p (MIRT052590), hsa-let-7b-5p (MIRT052334)

    Block miRNA regulation of human, mouse, rat GBF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GBF1 (see all 21):
    hsa-miR-3678-3p hsa-miR-106a hsa-miR-765 hsa-miR-519a hsa-miR-3125 hsa-miR-3916 hsa-miR-641 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidGBF1 3' UTR sequence
    Inhib. RNA
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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 COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus4
    cytosol2
    endoplasmic reticulum2
    mitochondrion2
    peroxisome2
    nucleus1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome IEA--
    GO:0005788endoplasmic reticulum lumen IEA--
    GO:0005794Golgi apparatus IDA--

    Find genes that share ontologies with GBF1           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 GBF1 About    
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    Membrane Trafficking0.32
    trans-Golgi Network Vesicle Budding0.89
    2COPI Mediated Transport
    COPI Mediated Transport0.31
    Golgi to ER Retrograde Transport0.00
    3Arf1 pathway
    Arf1 pathway


    Find genes that share SuperPaths with GBF1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for GBF1
        Arf1 pathway

    2 Reactome Pathways for GBF1
        Clathrin derived vesicle budding
    COPI Mediated Transport


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GBF1
    Interactions:

        GeneGlobe Interaction Network for GBF1

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

    Selected Interacting proteins for GBF1 (Q925381, 2, 3 ENSP000003590004) via UniProtKB, MINT, STRING, and/or I2D (see all 132)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPG1Q9Y6781, 2, 3, ENSP000003250024EBI-359050,EBI-1049127 MINT-7012894 MINT-7012932 I2D: score=2 STRING: ENSP00000325002
    YWHAGP619812, 3, ENSP000003063304MINT-50858 I2D: score=4 STRING: ENSP00000306330
    TNFRSF1BP203332, 3MINT-49406 I2D: score=2 
    ENSG00000096171P266403I2D: score=1 
    ENSG00000224264P266403I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006890retrograde vesicle-mediated transport, Golgi to ER TAS--
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0016032viral process IEA--
    GO:0016192vesicle-mediated transport IBA--
    GO:0019048modulation by virus of host morphology or physiology ----

    Find genes that share ontologies with GBF1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GBF1

    1 HMDB Compound for GBF1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    3 Novoseek inferred chemical compound relationships for GBF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gdp 59 1 15813748 (1)
    adp 57 3 17429068 (1), 10402461 (1), 20164217 (1)
    gtp 53.3 3 15813748 (2), 19707569 (1)



    Find genes that share compounds with GBF1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GBF1 gene (3 alternative transcripts): 
    NM_001199378.1  NM_001199379.1  NM_004193.2  

    Unigene Cluster for GBF1:

    Golgi brefeldin A resistant guanine nucleotide exchange factor 1
    Hs.290243  [show with all ESTs]
    Unigene Representative Sequence: NM_004193
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369983(uc001kuw.3 uc001kuy.2 uc001kuz.2 uc001kux.2)
    ENST00000476019
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GBF1 (see all 21):
    hsa-miR-3678-3p hsa-miR-106a hsa-miR-765 hsa-miR-519a hsa-miR-3125 hsa-miR-3916 hsa-miR-641 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidGBF1 3' UTR sequence
    Inhib. RNA
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): GBF1 (NM_004193)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GBF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GBF1
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      QuantiTect SYBR Green Assays in human, mouse, rat GBF1
      QuantiFast Probe-based Assays in human, mouse, rat GBF1

    Additional mRNA sequence: 

    AF068755.1 AK024916.1 AK025153.1 AK025330.1 BC007941.2 BC014171.2 BC032543.1 BC057804.1 
    BC068543.1 BC117681.1 BC117682.1 D87435.2 

    21 DOTS entries:

    DT.95141321  DT.217401  DT.121279880  DT.100804666  DT.75174816  DT.91750516  DT.100737629  DT.100030316 
    DT.121279858  DT.121279873  DT.121279878  DT.121279953  DT.40275862  DT.92412719  DT.92466573  DT.95324072 
    DT.95340055  DT.95340230  DT.121279870  DT.219676  DT.99968159 

    Selected AceView cDNA sequences (see all 416):

    AW732299 BU500904 AI161349 CD618169 BQ919138 BM561519 AI458484 BF431337 
    CD618167 BQ432489 AI916098 BF725034 AW328049 AA987967 BQ694760 AI681870 
    AK025330 CD618165 CD674720 BU944699 BC068543 AI139554 BQ641665 BF590586 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GBF1 (see all 14)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^
    SP1:                                -                                                           -                                                               
    SP2:                                -                                                           -                                                               
    SP3:                                                                                                                                                            
    SP4:                          -     -     -                                                                                                                     
    SP5:                                                                                                                                                            

    ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b · 28c ^ 29 ^ 30a · 30b · 30c ^ 31 ^ 32a · 32b · 32c ^ 33a · 33b · 33c ^ 34a · 34b ^ 35a · 35b ^ 36a · 36b ^
    SP1:                                      -           -                                   -           -     -           -                       -     -         
    SP2:                                      -           -                                   -           -     -           -                             -         
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                            -     -     -   

    ExUns: 37 ^ 38a · 38b ^ 39a · 39b ^ 40 ^ 41 ^ 42a · 42b
    SP1:                    -                                 
    SP2:                    -                                 
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for GBF1

    (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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    GBF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACATATGGA
    GBF1 Expression
    About this image

    GBF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GBF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.290243

    UniProtKB/Swiss-Prot: GBF1_HUMAN, Q92538
    Tissue specificity: Ubiquitous

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBF1

    (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 eukaryotes.

    Orthologs for GBF1 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gbf11 , 5 golgi-specific brefeldin A-resistance factor 11, 5 89.69(n)1
    93.96(a)1
      19 (38.75 cM)5
    1073381  NM_178930.31  NP_849261.21 
     461525095 
    chicken
    (Gallus gallus)
    Aves GBF11 golgi brefeldin A resistant guanine nucleotide exchange more 76.09(n)
    84.34(a)
      423758  XM_421632.4  XP_421632.4 
    lizard
    (Anolis carolinensis)
    Reptilia GBF16
    golgi brefeldin A resistant guanine nucleotide exc...
    80(a)
    1 ↔ 1
    GL343196.1(535261-628097)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.167612 Xenopus laevis transcribed sequence with moderate similarity more 77.67(n)    BJ066700.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-183c23.11 si:dkey-183c23.1 70.62(n)
    77.13(a)
      566350  XM_689622.6  XP_694714.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta garz1 , 3 ER to Golgi transport ARF small
    monomeric GTPase3
    gartenzwerg1
    44(a)3
    54.14(n)1
    48.82(a)1
      363371  NM_001259349.11  NP_001246278.11 
    worm
    (Caenorhabditis elegans)
    Secernentea gbf-11 gbf-1 51.58(n)
    46.44(a)
      176609  NM_001268211.1  NP_001255140.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GEA2(YEL022W)4 Guanine nucleotide exchange factor for ADP ribosylation more   --   5(111421-115800) 856691  NP_010892.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GN1 GN 48.38(n)
    39.9(a)
      837958  NM_001198062.1  NP_001184991.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g06661001 Os03g0666100 47.77(n)
    38.43(a)
      4333660  NM_001057379.1  NP_001050844.1 


    ENSEMBL Gene Tree for GBF1 (if available)
    TreeFam Gene Tree for GBF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GBF1 gene
    PSD32  PSD22  PSD2  PSD42  
    2 SIMAP similar genes for GBF1 using alignment to 5 protein entries:     GBF1_HUMAN (see all proteins):
    CYTH1    FLJ00017

    Find genes that share paralogs with GBF1           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 GBF1 (see all 2233)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs70741111,2
    C,H--104365800(+) CACAAT/GCACAT 3 -- us2k13Minor allele frequency- G:0.00NS NA 230
    rs1118336021,2
    C,F--104365854(+) TTGGCG/AAGCAG 3 -- us2k12Minor allele frequency- A:0.03CSA WA 120
    rs37585501,2
    C,F--104365996(-) ACCATC/TATAGC 3 -- us2k12Minor allele frequency- T:0.00NA 4
    rs1808660371,2
    --104366057(+) TGGACC/TCACCG 3 -- us2k10--------
    rs1413201561,2
    --104366261(+) ACCCCA/GTCTCT 3 -- us2k10--------
    rs1502092391,2
    --104366488(+) GCATCA/GTAGCA 3 -- us2k10--------
    rs766677191,2
    C,F--104366494(+) TAGCAC/TACGGA 3 -- us2k11Minor allele frequency- T:0.06WA 118
    rs1148835491,2
    C,F--104366510(+) TTTGGA/CTGTCT 3 -- us2k11Minor allele frequency- C:0.06WA 118
    rs1387246291,2
    C--104366557(+) AGCTTC/GCCTGG 3 -- us2k10--------
    rs1859711011,2
    --104366588(+) GGAGGA/TTGTAT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for GBF1 (104005255 - 104142656 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for GBF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740217CNV Deletion23290073
    nsv895970CNV Loss21882294
    nsv525546CNV Loss19592680
    nsv526665CNV Loss19592680
    nsv518095CNV Loss19592680
    esv29423CNV Loss19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GBF1
    DNA2.0 Custom Variant and Variant Library Synthesis for GBF1

    (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: 603698    OMIM disorders: --


    Find genes that share disorders with GBF1           About GenesLikeMe

    Genetic Association Database (GAD): GBF1
    Human Genome Epidemiology (HuGE) Navigator: GBF1 (15 documents)

    Export disorders for GBF1 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 GBF1 gene, integrated from 10 sources (see all 89):
    (articles sorted by number of sources associating them with GBF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human GBF1 is a ubiquitously expressed gene of the sec7 domain family mapping to 10q24. (PubMed id 9828135)1, 2, 3 Mansour S.J.... Melancon P. (Genomics 1998)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (Occup Environ Med 2009)
    5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    6. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    7. 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)
    8. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    9. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2 Nagase T.... Nomura N. (DNA Res. 1996)
    10. Dissection of membrane dynamics of the ARF-guanine nucleotide exchange factor GBF1. (PubMed id 15813748)1, 9 Szul T....Sztul E. (Traffic 2005)

    (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: 8729 HGNC: 4181 AceView: GBF1 Ensembl:ENSG00000107862 euGenes: HUgn8729
    ECgene: GBF1 H-InvDB: GBF1

    (According to HUGE)
    About This Section

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    HUGE: KIAA0248

    (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 GBF1 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 GBF1 gene:
    Search GeneIP for patents involving GBF1

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



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