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ARFGEF1 Gene

protein-coding   GIFtS: 57
GCID: GC08M068085

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

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include myosin binding 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_008183.20  NC_018919.2  
Regulatory elements:
   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 Chromatin IP Primers for ARFGEF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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
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: 

  • Phosphorylated. In vitro phosphorylated by PKA reducing its GEF activity and dephosphorylated by phosphatase PP11
  • Ubiquitination2 at Lys1224, Lys1694
  • Modification sites at PhosphoSitePlus

  • See ARFGEF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR011989 ARM-like
     IPR023394 Sec7_alpha_orthog
     IPR000904 Sec7_dom
     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


    Find genes that share domains with ARFGEF1           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: 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): Selected molecular function terms (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
         
    Find genes that share ontologies with ARFGEF1           About GenesLikeMe


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

    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target ARFGEF1:
    hsa-mir-10b-5p (MIRT047437), hsa-mir-877-3p (MIRT037025), hsa-mir-10a-5p (MIRT047646), hsa-mir-125a-3p (MIRT038638), hsa-mir-215-5p (MIRT024514), hsa-mir-192-5p (MIRT026910)

    Block miRNA regulation of human, mouse, rat ARFGEF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARFGEF1 (see all 34):
    hsa-miR-513a-5p hsa-miR-4272 hsa-miR-128 hsa-let-7a-2* hsa-miR-301a hsa-miR-192 hsa-miR-3613-3p hsa-miR-376c
    SwitchGear 3'UTR luciferase reporter plasmidARFGEF1 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 UniProtKB/Swiss-Prot
    BIG1_HUMAN, Q9Y6D6: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    golgi apparatus5
    nucleus5
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (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--

    Find genes that share ontologies with ARFGEF1           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ARFGEF1
    Interactions:

        GeneGlobe Interaction Network for ARFGEF1

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

    Selected Interacting proteins for ARFGEF1 (Q9Y6D61, 2, 3 ENSP000002622154) via UniProtKB, MINT, STRING, and/or I2D (see all 192)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARFGEF2Q9Y6D51, 3, ENSP000003609854EBI-1044254,EBI-2837511 I2D: score=3 STRING: ENSP00000360985
    ENSG00000206324Q999433, ENSP000003827234I2D: score=3 STRING: ENSP00000382723
    ENSG00000226467Q999433, ENSP000004058644I2D: score=3 STRING: ENSP00000405864
    ENSG00000227642Q999433, ENSP000003895164I2D: score=3 STRING: ENSP00000389516
    ENSG00000228892Q999433, ENSP000004128054I2D: score=3 STRING: ENSP00000412805
    About this table

    Gene Ontology (GO): Selected biological process terms (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--

    Find genes that share ontologies with ARFGEF1           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
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      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with ARFGEF1           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 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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    Selected qRT-PCR Assays for microRNAs that regulate ARFGEF1 (see all 34):
    hsa-miR-513a-5p hsa-miR-4272 hsa-miR-128 hsa-let-7a-2* hsa-miR-301a hsa-miR-192 hsa-miR-3613-3p hsa-miR-376c
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      QuantiFast Probe-based Assays in human, mouse, rat ARFGEF1

    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 

    Selected AceView cDNA sequences (see all 177):

    BU146212 BM992140 AA876416 BF437842 AI368789 AU133701 AU131774 AU134348 
    BM665832 R22862 AA477576 BQ922799 AK025637 AA766871 W37094 BM799497 
    CA389477 CB250529 Z38425 AW850187 AI953661 AU124093 CA314908 CA416114 

    GeneLoc Exon Structure

    Selected 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™, 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)
    About This Section

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    ARFGEF1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    ARFGEF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARFGEF1 Protein Expression

    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ARFGEF1 gene from Selected species (see all 25)    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_418283.4  XP_418283.3 
    lizard
    (Anolis carolinensis)
    Reptilia ARFGEF16
    ADP-ribosylation factor guanine nucleotide-exchang...
    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 sec71 60.78(n)
    68.1(a)
      34785  NM_135831.2  NP_609675.2 
    worm
    (Caenorhabditis elegans)
    Secernentea agef-11 agef-1 54.28(n)
    50.3(a)
      173231  NM_001136328.2  NP_001129800.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC71 SEC7 47.5(n)
    35.46(a)
      851748   NP_010454.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G608601 AT3G60860 48.85(n)
    39.66(a)
      825257  NM_115950.3  NP_191645.1 
    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)
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    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

    Find genes that share paralogs with ARFGEF1           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 ARFGEF1 (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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604141    OMIM disorders: --


    Find genes that share disorders with ARFGEF1           About GenesLikeMe

    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)
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    PubMed articles for ARFGEF1 gene, integrated from 10 sources (see all 60):
    (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. (J. Biol. Chem. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    9. Effects of brefeldin A-inhibited guanine nucleotide-exchange (BIG) 1 and KANK1 proteins on cell polarity and directed migration during wound healing. (PubMed id 22084092)1, 2 Li C.C.... Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2011)
    10. A Bayesian approach to genetic association studies with family-based designs. (PubMed id 20818722)1, 4 Naylor M.G....Lange C. (Genet. Epidemiol. 2010)

    (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: 10565 HGNC: 15772 AceView: ARFGEF1 Ensembl:ENSG00000066777 euGenes: HUgn10565
    ECgene: ARFGEF1 H-InvDB: ARFGEF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ARFGEF1 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 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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