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    RAPGEF1 Rap guanine nucleotide exchange factor (GEF) 1 [ Homo sapiens ]

    Gene ID: 2889, updated on 19-May-2012

    Summary

    Official Symbol
    RAPGEF1provided by HGNC
    Official Full Name
    Rap guanine nucleotide exchange factor (GEF) 1provided by HGNC
    Primary source
    HGNC:4568
    Locus tag
    RP11-40A7.1
    See related
    Ensembl:ENSG00000107263; HPRD:02627; MIM:600303; Vega:OTTHUMG00000020829
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C3G; GRF2; DKFZp781P1719
    Summary
    This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    9q34.3
    Sequence :
    Chromosome: 9; NC_000009.11 (134452157..134612925, complement)
    See RAPGEF1 in Epigenomics, MapViewer

    Chromosome 9 - NC_000009.11Genomic Context describing neighboring genes Neighboring gene protein-O-mannosyltransferase 1 Neighboring gene proline-rich transmembrane protein 1-like Neighboring gene uridine-cytidine kinase 1 Neighboring gene eukaryotic translation initiation factor 4A1 pseudogene 3 Neighboring gene mediator complex subunit 27

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q13905 P56945 BCAR1    HPRD  PubMed  
    Q13905 P46108 CRK    HPRD  PubMed  
    Q13905 P46109 CRKL    HPRD  PubMed  
    Q13905 P62993 GRB2    HPRD  PubMed  
    Q13905 P08631 HCK    HPRD  PubMed  
    Q13905 P01112 HRAS    HPRD  PubMed  
    Q13905 Q14511 NEDD9    HPRD  PubMed  
    Q13905 P61224 RAP1B    HPRD  PubMed  
    Q13905 P17081 RHOQ    HPRD  PubMed  
    Q13905 P62070 RRAS2    HPRD  PubMed  
    Q13905 P29353 SHC1    HPRD  PubMed  
    BioGRID:109146 BioGRID:114934 BCAR1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:109146 BioGRID:107788 CRK    BioGRID  PubMed Affinity Capture-Western; Far Western 
    NP_005198.1 CRKL    BIND  PubMed Crk-L interacts with C3G. 
    BioGRID:109146 BioGRID:107789 CRKL    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109146 BioGRID:109142 GRB2    BioGRID  PubMed Affinity Capture-Western; Far Western; Two-hybrid 
    BioGRID:109146 BioGRID:109305 HCK    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:109146 BioGRID:110816 NEDD9    BioGRID  PubMed Affinity Capture-Western 
    NP_001010935.1 RAP1A    BIND  PubMed Rap1A interacts with an unspecified isoform of C3G. 
    BioGRID:109146 BioGRID:112361 SHC1    BioGRID  PubMed Affinity Capture-Western 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • ARMS-mediated activation, organism-specific biosystem (from REACTOME)
      ARMS-mediated activation, organism-specific biosystemARMS (Ankyrin-Rich Membrane Spanning/Kidins 220) is a 220kD tetraspanning adaptor protein which becomes rapidly tyrosine phosphorylated by active Trk receptors. ARMS is another adaptor protein which ...
    • B Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      B Cell Receptor Signaling Pathway, organism-specific biosystemThe B cell receptor includes membrane ?? heavy chain molecules bound to a light chain and an Ig alpha (CD79A)/Ig beta (CD79B) heterodimer. Activation of the B cell receptor involves phosphorylation o...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Downstream signal transduction, organism-specific biosystem (from REACTOME)
      Downstream signal transduction, organism-specific biosystemThe role of autophosphorylation sites on PDGF receptors are to provide docking sites for downstream signal transduction molecules which contain SH2 domains. The SH2 domain is a conserved motif of aro...
    • E-cadherin signaling in the nascent adherens junction, organism-specific biosystem (from Pathway Interaction Database)
      E-cadherin signaling in the nascent adherens junction, organism-specific biosystem
      E-cadherin signaling in the nascent adherens junction
    • EPO signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      EPO signaling pathway, organism-specific biosystem
      EPO signaling pathway
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Frs2-mediated activation, organism-specific biosystem (from REACTOME)
      Frs2-mediated activation, organism-specific biosystemThe adaptor protein Frs2 (Fibroblast growth factor receptor substrate 2) can mediate the prolonged activation of the MAPK (ERK) cascade.
    • IFN-gamma pathway, organism-specific biosystem (from Pathway Interaction Database)
      IFN-gamma pathway, organism-specific biosystem
      IFN-gamma pathway
    • IL-3 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-3 Signaling Pathway, organism-specific biosystemInterleukin-3 belongs to a family of cytokines, which includes IL-5 and GM-CSF. It signals through a receptor complex comprising of an IL-3 specific IL-3 receptor alpha subunit (IL3RA) and a common b...
    • IL-5 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-5 Signaling Pathway, organism-specific biosystemInterleukin-5 belongs to the family of cytokines, which includes IL-3 and GM-CSF. It signals through a receptor complex comprising of an IL-5 receptor alpha subunit (IL5RA), and a common beta chain w...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Insulin Pathway, organism-specific biosystem (from Pathway Interaction Database)
      Insulin Pathway, organism-specific biosystem
      Insulin Pathway
    • Insulin Signaling, organism-specific biosystem (from WikiPathways)
      Insulin Signaling, organism-specific biosystem
      Insulin Signaling
    • Insulin signaling pathway, organism-specific biosystem (from KEGG)
      Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
    • Insulin signaling pathway, conserved biosystem (from KEGG)
      Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
    • Integrin-mediated cell adhesion, organism-specific biosystem (from WikiPathways)
      Integrin-mediated cell adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
    • Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystem (from REACTOME)
      Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystemThe Interleukin-3 (IL-3), IL-5 and Granulocyte-macrophage colony stimulating factor (GM-CSF) receptors form a family of heterodimeric receptors that have specific alpha chains but share a common beta...
    • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
      NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
    • Nectin adhesion pathway, organism-specific biosystem (from Pathway Interaction Database)
      Nectin adhesion pathway, organism-specific biosystem
      Nectin adhesion pathway
    • Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem
      Neurotrophic factor-mediated Trk receptor signaling
    • Neurotrophin signaling pathway, organism-specific biosystem (from KEGG)
      Neurotrophin signaling pathway, organism-specific biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
    • Neurotrophin signaling pathway, conserved biosystem (from KEGG)
      Neurotrophin signaling pathway, conserved biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
    • PDGFR-alpha signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      PDGFR-alpha signaling pathway, organism-specific biosystem
      PDGFR-alpha signaling pathway
    • Prolonged ERK activation events, organism-specific biosystem (from REACTOME)
      Prolonged ERK activation events, organism-specific biosystemAfter NGF binding, activated Trk receptors provide multiple docking sites for adaptor proteins and enzymes. Two docking proteins, the Ankyrin-Rich Membrane Spanning protein (ARMS/Kidins220) and Fibro...
    • Reelin signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Reelin signaling pathway, organism-specific biosystem
      Reelin signaling pathway
    • Regulation of signaling by CBL, organism-specific biosystem (from REACTOME)
      Regulation of signaling by CBL, organism-specific biosystemCbl is an E3 ubiquitin-protein ligase that negatively regulates signaling pathways by targeting proteins for ubiquitination and proteasomal degradation (Rao et al. 2002). Cbl negatively regulates PI3...
    • Renal cell carcinoma, organism-specific biosystem (from KEGG)
      Renal cell carcinoma, organism-specific biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
    • Renal cell carcinoma, conserved biosystem (from KEGG)
      Renal cell carcinoma, conserved biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
    • Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem
      Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
    • Signaling events mediated by focal adhesion kinase, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by focal adhesion kinase, organism-specific biosystem
      Signaling events mediated by focal adhesion kinase
    • Signaling of Hepatocyte Growth Factor Receptor, organism-specific biosystem (from WikiPathways)
      Signaling of Hepatocyte Growth Factor Receptor, organism-specific biosystem
      Signaling of Hepatocyte Growth Factor Receptor
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • Signalling to ERKs, organism-specific biosystem (from REACTOME)
      Signalling to ERKs, organism-specific biosystemNeurotrophins utilize multiple pathways to activate ERKs (ERK1 and ERK2), a subgroup of the large MAP kinase (MAPK) family, from the plasma membrane. The major signalling pathways to ERKs are via RAS...
    • T Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      T Cell Receptor Signaling Pathway, organism-specific biosystem
      T Cell Receptor Signaling Pathway

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of MAPKK activity TAS
    Traceable Author Statement
    more info
     
    nerve growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    regulation of small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transmembrane receptor protein tyrosine kinase signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    endosome TAS
    Traceable Author Statement
    more info
     
    intracellular IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    rap guanine nucleotide exchange factor 1
    Names
    rap guanine nucleotide exchange factor 1
    CRK SH3-binding GNRP
    guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_005312.2NP_005303.2  rap guanine nucleotide exchange factor 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. This results in a shorter isoform (a) with a distinct N-terminus, compared to isoform b.
      Source sequence(s)
      AJ420417, BC041710, BQ054243, BQ772947, D21239
      Consensus CDS
      CCDS48047.1
      UniProtKB/Swiss-Prot
      Q13905
      Related
      ENSP00000361263, ENST00000372189
      Conserved Domains (2) summary
      cd00155
      Location:8361060
      Blast Score: 588
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...
      cd06224
      Location:696810
      Blast Score: 184
      REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
    2. NM_198679.1NP_941372.1  rap guanine nucleotide exchange factor 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longer isoform (b).
      Source sequence(s)
      AJ420417, BC041710, BG429001, BG546427, BQ054243, BQ772947
      Consensus CDS
      CCDS48048.1
      UniProtKB/Swiss-Prot
      Q13905
      Related
      ENSP00000361264, ENST00000372190
      Conserved Domains (2) summary
      cd00155
      Location:8541078
      Blast Score: 587
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...
      cd06224
      Location:714828
      Blast Score: 184
      REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000009.11 Reference GRCh37.p5 Primary Assembly

      Range
      134452157..134612925, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000141.1 Alternate HuRef

      Range
      103946113..104106918, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

      Supplemental Content

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