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

ARFGEF1 Gene

protein-coding   GIFtS: 56
GCID: GC08M068085

ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor...

  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)
About This Section

Aliases
ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 1 (Brefeldin
A-Inhibited)1 2
     Brefeldin A-Inhibited Guanine Nucleotide-Exchange Protein 12
ARFGEP12 3 5     ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 13
BIG12 3 5     Brefeldin A-Inhibited GEP 13
P200 ARF Guanine Nucleotide Exchange Factor2 3     P200 ARF-GEP13
P2002 5     

External Ids:    HGNC: 157721   Entrez Gene: 105652   Ensembl: ENSG000000667777   OMIM: 6041415   UniProtKB: Q9Y6D63   

Export aliases for ARFGEF1 gene to outside databases

Previous GC identifers: GC08M068272 GC08M068109 GC08M063601


(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 ARFGEF1 Gene:
ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded
by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains
a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition.
(provided by RefSeq, Aug 2011)

GeneCards Summary for ARFGEF1 Gene: 
ARFGEF1 (ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)) is a protein-coding gene. Diseases associated with ARFGEF1 include epidermolysis bullosa acquisita, and congenital heart block. GO annotations related to this gene include ARF guanyl-nucleotide exchange factor activity and guanyl-nucleotide exchange factor activity. An important paralog of this gene is CYTH3.

UniProtKB/Swiss-Prot: BIG1_HUMAN, Q9Y6D6
Function: Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through
replacement of GDP with GTP. Involved in vesicular trafficking. Required for the maintenance of Golgi structure;
the function may be independent of its GEF activity. Required for the maturaion of integrin beta-1 in the Golgi.
Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing.
Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways.
Inhibits GAP activity of MYO9B probably through competetive RhoA binding. The function in the nucleus remains to
be determined

Gene Wiki entry for ARFGEF1 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_000008.10  NT_008183.19  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ARFGEF1 gene promoter:
         AhR   Pbx1a   p300   AP-4   XBP-1   LCR-F1   GATA-1   GATA-2   Pax-3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARFGEF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ARFGEF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARFGEF1


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

Entrez Gene cytogenetic band: 8q13   Ensembl cytogenetic band:  8q13.2   HGNC cytogenetic band: 8q13

ARFGEF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARFGEF1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M068085:  view genomic region     (about GC identifiers)

Start:
68,085,747 bp from pter      End:
68,255,912 bp from pter
Size:
170,166 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: BIG1_HUMAN, Q9Y6D6 (See protein sequence)
Recommended Name: Brefeldin A-inhibited guanine nucleotide-exchange protein 1  
Size: 1849 amino acids; 208767 Da
Subunit: Homodimer (Probable). Interacts with BIG1; both proteins are probably part of the same or very similar
macromolecular complexes. Interacts with FKBP2, DPY30, MYO9B, PRKAR1A, PRKAR2A, PPP1CC and PDE3A. Interacts with
KANK1; however, colocalization cannot be experimentally confirmed. Interacts with NCL, FBL, NUP62 and U3 small
nucleolar RNA
Subcellular location: Cytoplasm. Cytoplasm, perinuclear region. Golgi apparatus. Golgi apparatus, trans-Golgi
network (By similarity). Nucleus. Nucleus, nucleolus. Nucleus matrix. Membrane. Note=Translocates from cytoplasm
to membranes and nucleus upon cAMP treatment
1 PDB 3D structure from and Proteopedia for ARFGEF1:
3LTL (3D)    
Secondary accessions: Q9NV46 Q9UFV2 Q9UNL0

Explore the universe of human proteins at neXtProt for ARFGEF1: NX_Q9Y6D6

Explore proteomics data for ARFGEF1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated. In vitro phosphorylated by PKA reducing its GEF activity and dephosphorylated by phosphatase PP1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y6D6

  • ARFGEF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ARFGEF1 Protein Expression
    REFSEQ proteins: NP_006412.2  
    ENSEMBL proteins: 
     ENSP00000428429   ENSP00000262215   ENSP00000429560   ENSP00000430891   ENSP00000429138  
     ENSP00000429002  

    Human Recombinant Protein Products for ARFGEF1: 
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    Cloud-Clone Corp. Proteins for ARFGEF1 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IDA10716990
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--

    ARFGEF1 for ontologies           About GeneDecksing



    ARFGEF1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for ARFGEF1 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR000904 Sec7
     IPR011989 ARM-like
     IPR023394 SEC7_alpha_orthog
     IPR016024 ARM-type_fold
     IPR015403 DUF1981_SEC7_assoc

    Graphical View of Domain Structure for InterPro Entry Q9Y6D6

    ProtoNet protein and cluster: Q9Y6D6

    1 Blocks protein domain: IPB000904 SEC7-like domain

    UniProtKB/Swiss-Prot: BIG1_HUMAN, Q9Y6D6
    Similarity: Contains 1 SEC7 domain


    ARFGEF1 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: BIG1_HUMAN, Q9Y6D6
    Function: Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through
    replacement of GDP with GTP. Involved in vesicular trafficking. Required for the maintenance of Golgi structure;
    the function may be independent of its GEF activity. Required for the maturaion of integrin beta-1 in the Golgi.
    Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing.
    Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways.
    Inhibits GAP activity of MYO9B probably through competetive RhoA binding. The function in the nucleus remains to
    be determined
    Enzyme regulation: Inhibited by brefeldin A

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity IDA15644318
    GO:0005086ARF guanyl-nucleotide exchange factor activity IBA--
    GO:0005488binding ----
    GO:0005515protein binding IPI10716990
    GO:0008060NOT ARF GTPase activator activity IDA15644318
         
    ARFGEF1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ARFGEF1:
     Decreased Wnt reporter activit  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ARFGEF1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARFGEF1 
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    SwitchGear 3'UTR luciferase reporter plasmidARFGEF1 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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ARFGEF1

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

    5/131 Interacting proteins for ARFGEF1 (Q9Y6D61, 2, 3 ENSP000002622154) via UniProtKB, MINT, STRING, and/or I2D (see all 131)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARFGEF2Q9Y6D51, 3, ENSP000003609854EBI-1044254,EBI-2837511 I2D: score=3 STRING: ENSP00000360985
    AGPAT1Q999433I2D: score=3 
    ENSG00000206324Q999433I2D: score=3 
    ENSG00000226467Q999433I2D: score=3 
    ENSG00000227642Q999433I2D: score=3 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006887exocytosis TAS10212200
    GO:0007030Golgi organization IMP17227842
    GO:0010256endomembrane system organization IMP--
    GO:0015031protein transport IEA--
    GO:0016192vesicle-mediated transport IBA--

    ARFGEF1 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

    ARFGEF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ARFGEF1 (BIG1)

    1 HMDB Compound for ARFGEF1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    4 Novoseek inferred chemical compound relationships for ARFGEF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gdp 76.5 3 16477018 (1), 19332778 (1), 18292223 (1)
    gtp 67.8 3 16477018 (1), 19332778 (1), 18292223 (1)
    guanosine 5'-o-(3-thiotriphosphate) 67.1 2 7708740 (1), 12606707 (1)
    nocodazole 63.4 2 19020088 (1), 16467138 (1)

    Search CenterWatch for drugs/clinical trials and news about ARFGEF1 / BIG1

    (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 ARFGEF1 gene: 
    NM_006421.4  

    Unigene Cluster for ARFGEF1:

    ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)
    Hs.656902  [show with all ESTs]
    Unigene Representative Sequence: NM_006421
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000520381(uc003xxl.1) ENST00000522878 ENST00000262215(uc003xxn.2 uc003xxo.2)
    ENST00000518290(uc003xxp.1) ENST00000517955 ENST00000518789 ENST00000518230
    ENST00000517631 ENST00000519436
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidARFGEF1 3' UTR sequence
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    Additional mRNA sequence: 

    AB209324.1 AF084520.1 AF111162.1 AK001788.1 AK022557.1 AK025637.1 AK123660.1 AK127799.1 
    AL117446.1 

    14 DOTS entries:

    DT.445793  DT.86839762  DT.75173739  DT.92040140  DT.100783795  DT.40195517  DT.423592  DT.40294649 
    DT.120640617  DT.92442947  DT.100783797  DT.92442946  DT.95361857  DT.102845213 

    24/177 AceView cDNA sequences (see all 177):

    BM424130 BE465243 BM923948 BU146212 BM992140 AA876416 BF437842 AI368789 
    AU133701 AU131774 AU134348 BM665832 R22862 AA477576 BQ922799 AK025637 
    AA766871 W37094 BM799497 CA389477 CB250529 Z38425 AW850187 AI953661 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ARFGEF1 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                                      -                                                                                                                     
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34a · 34b · 34c · 34d ^ 35a · 35b ^ 36a · 36b · 36c ^ 37a · 37b ^ 38a · 38b · 38c
    SP1:                                                                    -     -                 -           -                                             
    SP2:                                                        -           -     -     -           -           -                                             
    SP3:                                                                                            -           -                                             
    SP4:                                                                                            -           -                                             
    SP5:                                                                                                        -                                             


    ECgene alternative splicing isoforms for ARFGEF1

    (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

    ARFGEF1 expression in normal human tissues (normalized intensities)      ARFGEF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTGCGGAG
    ARFGEF1 Expression
    About this image


    ARFGEF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/32 selected tissues (see all 32) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   

    See ARFGEF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARFGEF1

    SOURCE GeneReport for Unigene cluster: Hs.656902

    UniProtKB/Swiss-Prot: BIG1_HUMAN, Q9Y6D6
    Tissue specificity: Expressed in placenta, lung, heart, brain, kidney and pancreas

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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 eukaryotes.

    Orthologs for ARFGEF1 gene from 10/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arfgef11 , 5 ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited) less1, 5 91.95(n)1
    97.45(a)1
      1 (2.36 cM)5
    2116731  NM_001102430.11  NP_001095900.11 
     101375715 
    chicken
    (Gallus gallus)
    Aves ARFGEF11 ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited) less 84.59(n)
    94.85(a)
      420170  XM_418283.3  XP_418283.3 
    lizard
    (Anolis carolinensis)
    Reptilia ARFGEF16
    Uncharacterized protein
    94(a)
    1 ↔ 1
    4(31173347-31243973)
    African clawed frog
    (Xenopus laevis)
    Amphibia CF282946.12   -- 93.02(n)    CF282946.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj64h082 Transcribed sequence with moderate similarity to protein spQ9Y6D6 (H.sapiens) BIG1_HUMAN Brefeldin A-inhibited guanine nucleotide-exchange protein 1 (Brefeldin A-inhibited GEP 1) (p200 ARF-GEP1) (p200 ARF guanine nucleotide exchange factor) less 76.9(n)    CA474608.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sec711 CG7578-PA 60.74(n)
    68.1(a)
      34785  NM_135831.2  NP_609675.2 
    worm
    (Caenorhabditis elegans)
    Secernentea agef-11 Protein AGEF-1 54.07(n)
    50(a)
      173231  NM_001136328.1  NP_001129800.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC71 Sec7p 45.82(n)
    32.51(a)
      851748   NP_010454.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons EDA101 SEC7-like guanine nucleotide exchange protein 50.06(n)
    39.58(a)
      839301  NM_100076.2  NP_171698.1 
    rice
    (Oryza sativa)
    Liliopsida Os.105272 Oryza sativa guanine nucleotide-exchange protein GEP2 (GEP2) mRNA, partial cds less 73.91(n)    AF262215.1 


    ENSEMBL Gene Tree for ARFGEF1 (if available)
    TreeFam Gene Tree for ARFGEF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ARFGEF1 gene
    CYTH32  IQSEC32  CYTH22  ARFGEF22  ENSG000002684652  IQSEC12  IQSEC22  CYTH42  
    CYTH12  FBXO82  
    8 SIMAP similar genes for ARFGEF1 using alignment to 6 protein entries:     BIG1_HUMAN (see all proteins):
    ARFGEF2    PSCD2L    CYTH2    CYTH1    CYTH3    FLJ00017
    CYTH4    MST051

    ARFGEF1 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

    10/2727 SNPs in ARFGEF1 are shown (see all 2727)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361554
    A colorectal cancer sample4--see VAR_0361552 G E mis40--------
    rs1885160931,2
    --63750341(+) TGTAGA/TCCCAG 1 -- int10--------
    rs1388925111,2
    --63750349(+) CAGCAC/GTTTGG 1 -- int10--------
    rs1115892491,2
    C,F--63750369(+) GCAGGT/AGAATG 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1857144001,2
    --68109424(+) GCCTAG/TAATCC 1 -- ds50010--------
    rs1905516581,2
    --68109537(+) TTTTTA/TAATTA 1 -- ds50010--------
    rs1819877151,2
    --68109579(+) CACTAC/TTGGGG 1 -- ds50010--------
    rs1461312571,2
    --68109680(+) TCCGGC/TCTCTA 1 -- ds50010--------
    rs1853535071,2
    --68109963(+) GATGGC/GAATCA 1 -- ut310--------
    rs1887886541,2
    --68110387(+) TTCTAC/GCTTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ARFGEF1 (68085747 - 68255912 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ARFGEF1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2578987CNV Deletion19546169
    dgv1291e199CNV Deletion23128226
    esv2737121CNV Deletion23290073
    esv2664076CNV Deletion23128226
    esv23466CNV Loss19812545
    esv2752264CNV Gain17911159
    esv2752263CNV Gain17911159
    esv7037CNV Gain19470904

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604141    OMIM disorders: --

    6 diseases for ARFGEF1:    About MalaCards
    epidermolysis bullosa acquisita    congenital heart block    rubella    epidermolysis bullosa
    bullous pemphigoid    breast cancer


    ARFGEF1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ARFGEF1
    Human Genome Epidemiology (HuGE) Navigator: ARFGEF1 (2 documents)

    Export disorders for ARFGEF1 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 ARFGEF1 gene, integrated from 9 sources (see all 58):
    (articles sorted by number of sources associating them with ARFGEF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification and cloning of a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors. (PubMed id 10212200)1, 2, 3, 9 Togawa A.... Vaughan M. (1999)
    2. Effect of protein kinase A on accumulation of brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1) in HepG2 cell nuclei. (PubMed id 16467138)1, 2, 9 Citterio C....Vaughan M. (2006)
    3. Regulation of brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1) and BIG2 activity via PKA and protein phosphatase 1gamma. (PubMed id 17360629)1, 2, 9 Kuroda F....Vaughan M. (2007)
    4. Nuclear localization and molecular partners of BIG1, a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors. (PubMed id 14973189)1, 2, 9 Padilla P.I....Vaughan M. (2004)
    5. Association of guanine nucleotide-exchange protein BIG1 in HepG2 cell nuclei with nucleolin, U3 snoRNA, and fibrillarin. (PubMed id 18292223)1, 2, 9 Padilla P.I....Vaughan M. (2008)
    6. Interaction of FK506-binding protein 13 with brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1): effects of FK506. (PubMed id 12606707)1, 2, 9 Padilla P.I....Vaughan M. (2003)
    7. p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A. (PubMed id 10393931)1, 2, 9 Mansour S.J....Melancon P. (1999)
    8. Protein kinase A-anchoring (AKAP) domains in brefeldin A-inhibited guanine nucleotide-exchange protein 2 (BIG2). (PubMed id 12571360)1, 2, 9 Li H....Vaughan M. (2003)
    9. Effects of brefeldin A-inhibited guanine nucleotide-e xchange (BIG) 1 and KANK1 proteins on cell polarity and directed migration duri ng wound healing. (PubMed id 22084092)1, 2 Li C.C....Vaughan M. (2011)
    10. A Bayesian approach to genetic association studies wi th family-based designs. (PubMed id 20818722)1, 4 Naylor M.G....Lange C. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (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: 10565 HGNC: 15772 AceView: ARFGEF1 Ensembl:ENSG00000066777 euGenes: HUgn10565
    ECgene: ARFGEF1 H-InvDB: ARFGEF1

    (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 ARFGEF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ARFGEF1 gene:
    Search GeneIP for patents involving ARFGEF1

    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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