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RASGRF1 Gene

protein-coding   GIFtS: 61
GCID: GC15M079252

Ras Protein-Specific Guanine Nucleotide-Releasing Factor...


(Previous symbol: GRF1)
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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
Ras Protein-Specific Guanine Nucleotide-Releasing Factor 11 2     PP131872
GRF11 2 3     Guanine Nucleotide Exchange Factor2
Guanine Nucleotide-Releasing Protein2 3     Guanine Nucleotide-Releasing Factor 12
CDC252 3     Guanine Nucleotide-Releasing Factor, 55 KD2
GNRP2 3     ras-GRF12
Ras-Specific Nucleotide Exchange Factor CDC252 3     Ras-Specific Guanine Nucleotide-Releasing Factor 12
CDC25L2     Ras-Specific Guanine Nucleotide-Releasing Factor, CDC25 Homolog2
GRF552     Ras-GRF13
H-GRF552     

External Ids:    HGNC: 98751   Entrez Gene: 59232   Ensembl: ENSG000000583357   OMIM: 6066005   UniProtKB: Q139723   

Export aliases for RASGRF1 gene to outside databases

Previous GC identifers: GC15P075083 GC15M072411 GC15M076830 GC15M076970 GC15M077041 GC15M056012


(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 RASGRF1 Gene:
The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces
cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation
of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this
protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse
studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term
memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. (provided by
RefSeq, Mar 2009)

GeneCards Summary for RASGRF1 Gene:
RASGRF1 (Ras protein-specific guanine nucleotide-releasing factor 1) is a protein-coding gene. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is RALGPS2.

UniProtKB/Swiss-Prot: RGRF1_HUMAN, Q13972
Function: Promotes the exchange of Ras-bound GDP by GTP




(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_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RASGRF1 gene promoter:
         c-Fos   AP-1   ATF-2   c-Jun   Roaz   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRASGRF1 promoter sequence
   Search Chromatin IP Primers for RASGRF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RASGRF1


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

Entrez Gene cytogenetic band: 15q24.2   Ensembl cytogenetic band:  15q25.1   HGNC cytogenetic band: 15q24

RASGRF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RASGRF1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M079252:  view genomic region     (about GC identifiers)

Start:
79,252,289 bp from pter      End:
79,383,215 bp from pter
Size:
130,927 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: RGRF1_HUMAN, Q13972 (See protein sequence)
Recommended Name: Ras-specific guanine nucleotide-releasing factor 1  
Size: 1275 amino acids; 145383 Da
Subunit: Homooligomer and heterooligomer with RASGRF2. Interacts with USP8, thereby regulating its stability (By
similarity)
Secondary accessions: Q16027
Alternative splicing: 2 isoforms:  Q13972-1   Q13972-2   

Explore the universe of human proteins at neXtProt for RASGRF1: NX_Q13972

Explore proteomics data for RASGRF1 at MOPED

Post-translational modifications: 

  • Phosphorylated by PLK2, leading to ubiquitination and degradation by the proteasome (By similarity)1
  • Ubiquitinated and degraded following phosphorylation by PLK2 (By similarity)1
  • Phosphorylated by SRC and LCK. Phosphorylation by LCK increases its capacity to stimulate the GDP/GTP exchange on
    Ras, whereas its phosphorylation by SRC seems not to have an effect on stimulation activity1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RASGRF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001139120.1  NP_002882.3  NP_722522.1  

    ENSEMBL proteins: 
     ENSP00000452781   ENSP00000405963   ENSP00000378228  
    Reactome Protein details: Q13972

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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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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing
    ARHGEF: Rho guanine nucleotide exchange factors

    Selected InterPro protein domains (see all 10):
     IPR008937 Ras_GEF
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR023578 Ras_GEF_dom

    Graphical View of Domain Structure for InterPro Entry Q13972

    ProtoNet protein and cluster: Q13972

    4 Blocks protein domains:
    IPB000048 IQ calmodulin-binding region
    IPB000219 DH domain
    IPB001849 Pleckstrin-like
    IPB001895 Guanine-nucleotide dissociation stimulator CDC25


    UniProtKB/Swiss-Prot: RGRF1_HUMAN, Q13972
    Domain: The DH (DBL-homology) domain mediates interaction with RASGRF2
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 IQ domain
    Similarity: Contains 1 N-terminal Ras-GEF domain
    Similarity: Contains 2 PH domains
    Similarity: Contains 1 Ras-GEF domain


    Find genes that share domains with RASGRF1           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: RGRF1_HUMAN, Q13972
    Function: Promotes the exchange of Ras-bound GDP by GTP

         Genatlas biochemistry entry for RASGRF1:
    guanine nucleotide releasing factor (55kDa),specific for Ras proteins

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity TAS1379731
    GO:0005088Ras guanyl-nucleotide exchange factor activity TAS7684828
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding ----
    GO:0035254glutamate receptor binding ----
         
    Find genes that share ontologies with RASGRF1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for RASGRF1:
     Decreased Salmonella enterica   Decreased Salmonella enterica  

         9 MGI mutant phenotypes (inferred from 11 alleles(MGI details for Rasgrf1):
     adipose tissue  behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body 
     homeostasis/metabolism  nervous system  no phenotypic analysis  normal 

    Find genes that share phenotypes with RASGRF1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for RASGRF1: Rasgrf1tm3.1Pds Rasgrf1tm1Kln Rasgrf1tm2Pds Rasgrf1tm3Pds Rasgrf1tm1Sva Rasgrf1tm1Esn
                                                         Rasgrf1tm1Toc Rasgrf1tm1Pds

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    hsa-miR-323-3p hsa-miR-3130-5p hsa-miR-100* hsa-miR-513a-5p hsa-miR-139-5p hsa-miR-632 hsa-miR-624 hsa-miR-1183
    SwitchGear 3'UTR luciferase reporter plasmidRASGRF1 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
    plasma membrane5
    cytosol3
    nucleus2
    golgi apparatus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol ISS--
    GO:0005886plasma membrane TAS--
    GO:0030426growth cone ISS--
    GO:0043005neuron projection NAS10918068

    Find genes that share ontologies with RASGRF1           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 RASGRF1 About   (see all 19)  
    See pathways by source

    SuperPathContained pathways About
    1Post NMDA receptor activation events
    Post NMDA receptor activation events0.90
    CREB phosphorylation through the activation of Ras0.78
    Activation of NMDA receptor upon glutamate binding and postsynaptic events0.90
    Ras activation uopn Ca2+ infux through NMDA receptor0.00
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    3G protein signaling TC21 regulation pathway
    G protein signaling TC21 regulation pathway0.71
    G protein signaling M RAS regulation pathway0.71
    4Cell adhesion Integrin mediated cell adhesion and migration
    Cell adhesion Integrin mediated cell adhesion and migration0.49
    Development MAG dependent inhibition of neurite outgrowth0.46
    5Focal adhesion
    Focal adhesion0.65


    Find genes that share SuperPaths with RASGRF1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RASGRF1
        Molecular Mechanisms of Cancer

    Selected GeneGo (Thomson Reuters) Pathways for RASGRF1 (see all 8)
        G-protein signaling H-RAS regulation pathway
    G-protein signaling TC21 regulation pathway
    G-protein signaling M-RAS regulation pathway
    Cell adhesion Integrin-mediated cell adhesion and migration
    Development A3 receptor signaling

    Selected BioSystems Pathways for RASGRF1 (see all 7)
        Serotonin Receptor 2 and ELK-SRF/GATA4 signaling
    p38 MAPK Signaling Pathway
    BDNF signaling pathway
    TFs Regulate miRNAs related to cardiac hypertrophy
    Neurotrophic factor-mediated Trk receptor signaling


    1 Reactome Pathway for RASGRF1
        Ras activation uopn Ca2+ infux through NMDA receptor


    3 Kegg Pathways  (Kegg details for RASGRF1):
        MAPK signaling pathway
    Ras signaling pathway
    Focal adhesion

        Pathway & Disease-focused RT2 Profiler PCR Array including RASGRF1: 
              Focal Adhesions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RASGRF1

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

    Selected Interacting proteins for RASGRF1 (Q139722, 3 ENSP000004059634) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046372, 3, ENSP000002693054MINT-2634790 I2D: score=1 STRING: ENSP00000269305
    PLK1P533502, 3, ENSP000003000934MINT-2634770 I2D: score=1 STRING: ENSP00000300093
    HRASP011123, ENSP000003098454I2D: score=1 STRING: ENSP00000309845
    MARK3P274483, ENSP000004113974I2D: score=1 STRING: ENSP00000411397
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS7684828
    GO:0007264small GTPase mediated signal transduction IEA--
    GO:0007268synaptic transmission TAS--
    GO:0007616long-term memory NAS10918068
    GO:0008283cell proliferation ----

    Find genes that share ontologies with RASGRF1           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 Tocris compounds for RASGRF1 (RGRF1)

    1 HMDB Compound for RASGRF1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    7 Novoseek inferred chemical compound relationships for RASGRF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gdp 75.9 10 8441380 (2), 8289791 (2), 7641877 (1), 17389601 (1) (see all 6)
    guanine 64.5 8 8462098 (1), 8524240 (1), 18089774 (1), 7684828 (1) (see all 8)
    gtp 59.6 9 8441380 (2), 8289791 (2), 7641877 (1), 8607981 (1) (see all 5)
    tyrosine 39.3 10 10681520 (3), 10882715 (2), 8607981 (1), 9255347 (1)
    ionomycin 29.2 5 10373510 (3)
    calcium 0 4 10896791 (2), 10601308 (1)
    serine 0 3 10601308 (2)



    Find genes that share compounds with RASGRF1           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 RASGRF1 gene (3 alternative transcripts): 
    NM_001145648.1  NM_002891.4  NM_153815.2  

    Unigene Cluster for RASGRF1:

    Ras protein-specific guanine nucleotide-releasing factor 1
    Hs.459035  [show with all ESTs]
    Unigene Representative Sequence: NM_002891
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000558480(uc002beo.3) ENST00000419573(uc002beq.3 uc002bep.3 uc002ber.4)
    ENST00000394745 ENST00000559926 ENST00000560334(uc010blm.1 uc010unh.1)
    ENST00000560286 ENST00000560943 ENST00000561112
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    Additional mRNA sequence: 

    AF370414.1 AK226101.1 AK290135.1 AK301205.1 AK309047.1 AL109674.1 AL109675.1 AL355696.1 
    BC040275.1 L26584.1 M91815.1 S62035.1 

    9 DOTS entries:

    DT.100016124  DT.99953992  DT.121015280  DT.107514  DT.40113094  DT.97825515  DT.107515  DT.312278 
    DT.91902597 

    Selected AceView cDNA sequences (see all 58):

    F03199 NM_002891 AA337746 AL359931 BI752030 AA610636 AL355696 NM_153815 
    AL109674 N62696 AL109675 T16354 BC040275 L26584 BE439540 BP360889 
    AW593531 BI711856 CB215372 BM984243 Z43960 AW900460 AI341864 BQ718387 

    GeneLoc Exon Structure


    (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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    RASGRF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RASGRF1 Expression
    About this image


    RASGRF1 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
     
     Neurons
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Eye (Sensory Organs)
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Brain (Nervous System)
             Adult Dopaminergic Neurons Substantia Nigra pars Compacta
    RASGRF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RASGRF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.459035
        Pathway & Disease-focused RT2 Profiler PCR Array including RASGRF1: 
              Focal Adhesions in human mouse rat

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    In Situ
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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 animals and fungi.

    Orthologs for RASGRF1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rasgrf11 , 5 RAS protein-specific guanine nucleotide-releasing factor more1, 5 84.37(n)1
    85.01(a)1
      9 (47.31 cM)5
    194171  NM_011245.21  NP_035375.11 
     899097755 
    chicken
    (Gallus gallus)
    Aves RASGRF11 Ras protein-specific guanine nucleotide-releasing factor more 83.45(n)
    92.52(a)
      415578  XM_004943951.1  XP_004944008.1 
    lizard
    (Anolis carolinensis)
    Reptilia RASGRF16
    Ras protein-specific guanine nucleotide-releasing ...
    76(a)
    1 ↔ 1
    GL343835.1(7476-50717)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rasgrf11 Ras protein-specific guanine nucleotide-releasing factor more 74.99(n)
    84.18(a)
      100492267  XM_002932963.2  XP_002933009.2 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-234p18.31 si:ch211-234p18.3 78.98(n)
    89.23(a)
      568885  XM_002665349.2  XP_002665395.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC256
    Membrane bound guanine nucleotide exchange factor ...
    11(a)
    1 → many
    XII(752224-756993) YLR310C


    ENSEMBL Gene Tree for RASGRF1 (if available)
    TreeFam Gene Tree for RASGRF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RASGRF1 gene
    RALGPS22  RAPGEF12  RGL22  SOS22  RASGRF22  SOS12  RGL32  RALGDS2  
    RALGPS12  RGL12  RGL42  
    2 SIMAP similar genes for RASGRF1 using alignment to 4 protein entries:     RGRF1_HUMAN (see all proteins):
    RASGRF2    FAM109A

    Find genes that share paralogs with RASGRF1           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 RASGRF1 (see all 2733)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1923360471,2
    --56144257(+) CCTGAA/GCACAG 2 -- us2k10--------
    rs788428801,2
    C--56144289(+) GAGTGG/AGAGCA 2 -- us2k11Minor allele frequency- A:0.01WA 118
    rs779943061,2
    C,F--56144387(+) CTGATT/ATTTCT 2 -- us2k12Minor allele frequency- A:0.09WA NA 238
    rs774370401,2
    C,F--56144412(+) AATAGG/ACTAGA 2 -- us2k15Minor allele frequency- A:0.15CSA WA NA EA 362
    rs1820692271,2
    --56144636(+) TGAATC/TGTCAT 2 -- us2k10--------
    rs285871341,2
    F--56144637(+) GAATCG/ATCATG 2 -- us2k11Minor allele frequency- A:0.03WA 118
    rs352613261,2
    C--59339233(+) TCTAG-/T/TT  
            
    TTTTT
    3 -- us2k1 int11NA 2
    rs1876084581,2
    --79251868(+) TGTCCC/TGCCTT 3 -- int10--------
    rs1912725711,2
    --79251890(+) CAATGC/TGTAGC 3 -- int10--------
    rs1431111791,2
    --79252225(+) TACTTC/TATTGG 3 -- int10--------

    HapMap Linkage Disequilibrium report for RASGRF1 (79252289 - 79383215 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for RASGRF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660956CNV Deletion23128226
    esv1000067CNV Deletion20482838
    esv2749917CNV Deletion23290073
    esv2749920CNV Deletion23290073
    nsv509577CNV Insertion20534489
    nsv525630CNV Loss19592680
    nsv827410CNV Gain20364138
    nsv904433CNV Gain21882294
    esv33573CNV Gain+Loss17666407
    dgv758e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RASGRF1
    DNA2.0 Custom Variant and Variant Library Synthesis for RASGRF1

    (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: 606600    OMIM disorders: --


    Find genes that share disorders with RASGRF1           About GenesLikeMe

    Genetic Association Database (GAD): RASGRF1
    Human Genome Epidemiology (HuGE) Navigator: RASGRF1 (1 document)

    Export disorders for RASGRF1 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 RASGRF1 gene, integrated from 10 sources (see all 94):
    (articles sorted by number of sources associating them with RASGRF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a mammalian gene structurally and functionally related to the CDC25 gene of Saccharomyces cerevisiae. (PubMed id 1379731)1, 2, 3, 9 Wei W.... Broek D. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    2. Identification of a human guanine nucleotide-releasing factor (H- GRF55) specific for Ras proteins. (PubMed id 7684828)1, 2, 3, 9 Schweighoffer F.... Tocque B. (Oncogene 1993)
    3. Ras-specific exchange factor GRF: oligomerization through its Dbl homology domain and calcium-dependent activation of Raf. (PubMed id 10373510)1, 2, 9 Anborgh P.H....Lowy D.R. (Mol. Cell. Biol. 1999)
    4. A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. (PubMed id 20835236)1, 4 Hysi P.G....Hammond C.J. (Nat. Genet. 2010)
    5. A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. (PubMed id 20031603)1, 4 Marroni F....Pramstaller P.P. (Circ Cardiovasc Genet 2009)
    6. Cloning and analysis of human cDNAs encoding a 140-kDa brain guanine nucleotide-exchange factor, Cdc25GEF, which regulates the function of Ras. (PubMed id 7828890)1, 2 Wei W.... Broek D. (Gene 1994)
    7. Induction of rac-guanine nucleotide exchange activity of Ras-GRF1/CDC25(Mm) following phosphorylation by the nonreceptor tyrosine kinase Src. (PubMed id 10681520)1, 9 Kiyono M....Satoh T. (J. Biol. Chem. 2000)
    8. Stimulation of Ras guanine nucleotide exchange activity of Ras-GRF1/CDC25(Mm) upon tyrosine phosphorylation by the Cdc42-regulated kinase ACK1. (PubMed id 10882715)1, 9 Kiyono M....Satoh T. (J. Biol. Chem. 2000)
    9. G protein beta gamma subunit-dependent Rac-guanine nucleotide exchange activity of Ras-GRF1/CDC25(Mm). (PubMed id 10220378)1, 9 Kiyono M....Kaziro Y. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    10. Filamin A-mediated down-regulation of the exchange factor Ras-GRF1 correlates with decreased matrix metalloproteinase-9 expression in human melanoma cells. (PubMed id 17389601)1, 9 Zhu T.N....Bernier M. (J. Biol. Chem. 2007)

    (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: 5923 HGNC: 9875 AceView: RASGRF1 Ensembl:ENSG00000058335 euGenes: HUgn5923
    ECgene: RASGRF1 Kegg: 5923 H-InvDB: RASGRF1

    (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 RASGRF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RASGRF1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RASGRF1 gene:
    Search GeneIP for patents involving RASGRF1

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



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