V3 here soon-try beta now
Gene Search (GeneCards Home) | GeneCards Guide | User Feedback | Terms of Use | Notice about third-party sites
 

RAF1 Gene

protein-coding   GIFtS: 75

GC03M012600
v-raf-1 murine leukemia viral oncogene homolog 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
C-RAF 3
CRAF 1, 2, 5
EC 2.7.11.1 3
NS5 2, 5
RAF 3
Raf-1 1, 2, 3
c-Raf 1, 2
cRaf 3
Descriptions
Oncogene RAF1 2
raf proto-oncogene serine/threonine protein kinase 2
v-raf-1 murine leukemia viral oncogene homolog 1 2
External Ids
HGNC: 98291
Entrez Gene: 58942
UniProtKB: P040493
Ensembl: ENSG000001321557
Search outside databases for aliases for RAF1 gene

Previous GC identifer: GC03M012554

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for RAF1:
This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase
kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases
to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to
activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to
activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are
pleiotropic effectors of cell physiology and play an important role in the control of gene
expression involved in the cell division cycle, apoptosis, cell differentiation and cell
migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2.
[provided by RefSeq]

UniProtKB/Swiss-Prot: RAF1_HUMAN, P04049
Function: Involved in the transduction of mitogenic signals from the cell membrane to the nucleus.
Part of the Ras-dependent signaling pathway from receptors to the nucleus. Protects cells from
apoptosis mediated by STK3

Gene Wiki entry for RAF1 (C-Raf)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the RAF1 gene  

Entrez Gene cytogenetic band: 3p25   Ensembl cytogenetic band:  3p25.1   HGNC cytogenetic band: 3p25

RAF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M012600:     (about GC identifiers)

Start:
12,600,108 bp from pter
End:
12,680,678 bp from pter
Size:
80,571 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000003.10  NT_022517.17  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: RAF1_HUMAN, P04049 (See protein sequence)
Recommended Name: RAF proto-oncogene serine/threonine-protein kinase  
Size: 648 amino acids; 73052 Da
Cofactor: Binds 2 zinc ions per subunit
Subunit: Interacts with Ras proteins; the interaction is antagonized by RIN1. Weakly interacts with
RIT1 (By similarity). Interacts with STK3; the interaction inhibits its pro-apoptotic activity.
Interacts with YWHAZ (unphosphorylated at 'Thr-232')
PDB structures from and Proteopedia :
1C1Y (3D)    1FAQ (3D)    1FAR (3D)    1GUA (3D)    1RFA (3D)    3CU8 (3D)    
Secondary accessions: B0LPH8 B2R5N3 Q15278 Q9UC20
Alternative splicing: 2 isoforms:  P04049-1   P04049-2   

Post-translational modifications:

  • Phosphorylated upon DNA damage, probably by ATM or ATR. Phosphorylation at Thr-269 increases its
    kinase activity1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_002871.1  

    ENSEMBL proteins: 
    ENSP00000251849 


    Human Recombinant Proteins 
    Invitrogen human recombinant proteins for RAF1
    Millipore Purified and/or Recombinant RAF1 Protein
    Sigma-Aldrich Proteins for RAF1  
    R&D Systems Recombinant & Natural Proteins for RAF1 (Raf-1)
    Enzo Life Sciences proteins for RAF1
    Recombinant Proteins from Abcam (Raf1)
    Human Recombinant Proteins from Abnova (RAF1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005741 mitochondrial outer membrane TAS8929532
    GO:0005829 cytosol EXP9069260
    GO:0005886 plasma membrane EXP9069260
    About this table

    Antibodies for RAF1: 
    Invitrogen Antibodies for RAF1
    Millipore Mono- and Polyclonal Antibodies for the study of RAF1
    Sigma-Aldrich Antibody Arrays and Antibodies for RAF1
    R&D Systems Antibodies for RAF1 (Raf-1)
    Cell Signaling Technology (CST) Antibodies for RAF1  (c-Raf)
    Antibodies from Abcam (Raf1), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Novus Biologicals Antibodies for RAF1

    Assays for RAF1: 
    Invitrogen Assays for RAF1
    Millipore Kits and Assays for the Analysis of RAF1
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/6 InterPro domains/families (see all 6 ):
     IPR017441 Protein_kinase_ATP_BS
     IPR008271 Ser_thr_pkin_AS
     IPR000719 Prot_kinase_core
     IPR003116 Raf-like_ras_bd
     IPR017442 Se/Thr_pkinase-rel


       GeneDecks  RAF1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P04049

    ProtoNet protein and cluster: P04049

    2 Blocks protein families:
    IPB002219 Protein kinase C
    IPB003116 Raf-like Ras-binding


    UniProtKB/Swiss-Prot: RAF1_HUMAN, P04049
    Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF
    subfamily
    Similarity: Contains 1 phorbol-ester/DAG-type zinc finger
    Similarity: Contains 1 protein kinase domain
    Similarity: Contains 1 RBD (Ras-binding) domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (RAF1)
    Millipore RNAi Products for the Analysis of RAF1 Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (RAF1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002880

                  Applied Biosystems Silencer® siRNAs for RAF1

                  Sigma-Aldrich siRNA and siRNA Panels for RAF1  
                         Sigma-Aldrich shRNA Panels and shRNA for RAF1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for RAF1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_002880
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_002880
                                     untagged cDNA clones in CMV expression vector (see all 5): NM_002880 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_002880

    UniProtKB/Swiss-Prot: RAF1_HUMAN, P04049
    Function: Involved in the transduction of mitogenic signals from the cell membrane to the nucleus.
    Part of the Ras-dependent signaling pathway from receptors to the nucleus. Protects cells from
    apoptosis mediated by STK3
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme Number (IUBMB): EC 2.7.11.1 

    Genatlas biochemistry entry for RAF1:
    murine sarcoma viral (v-raf-1) oncogene homolog 1 (mitogenic factor) interacting with TC21 for
    activation and translocation to plasma membrane

    14 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Raf1):

    cellularembryogenesisgrowth/sizehematopoietic system
    lethality-postnatallethality-prenatal/perinatalliver/biliary systemmusclenervous system
    normalrespiratory systemskin/coat/nailsvision/eye

    5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0004674 protein serine/threonine kinase activity IEA--
    GO:0005057 receptor signaling protein activity IEA--
    GO:0005515 protein binding IPI9624170 10433554
    GO:0005524 ATP binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    5/58 Invitrogen iPath™ Online BioAtlas - Pathways for RAF1 (see all 58 ) (Maps provided by GeneGo):
     PTEN pathway
     Regulation of apoptosis by mitochondrial proteins
     Ras family GTPases in kinase cascades (scheme)
     IL4 signaling pathway
     Angiotensin signaling via PYK2

       GeneDecks  RAF1 for the pathways selected above  
    About GeneDecksing

    5/86 Millipore Pathways for RAF1 (see all 86 )
     Chemotaxis CXCR4 signaling pathway
     Translation Translation regulation by Alpha-1 adrenergic receptors
     Development Activation of ERK by Alpha-1 adrenergic receptors
     Immune response CD16 signaling in NK cells
     Cytoskeleton remodeling FAK signaling

       GeneDecks  RAF1 for the pathways selected above  
    About GeneDecksing

    5/80 Sigma-Aldrich "Your Favorite Gene" Pathways for  RAF1  (Your Favorite Gene powered by Ingenuity) (see all 80
     Natural Killer Cell Signaling
     fMLP Signaling in Neutrophils
     Melanoma Signaling
     Melatonin Signaling
     Thrombopoietin Signaling

       GeneDecks  RAF1 for the pathways selected above  
    About GeneDecksing

    7 Cell Signaling Technology (CST) Pathways for RAF1: 
     Jak/Stat Signaling: IL-6 Receptor Family
     T Cell Receptor Signaling
     B Cell Receptor Signaling
     Akt/PKB Signaling
     Insulin Receptor Signaling
     Cytoskeletal Signaling
     MAPK/Erk in Growth and Differentiation

       GeneDecks  RAF1 for the pathways selected above  
    About GeneDecksing

    5/28 Kegg Pathways  (Kegg details for RAF1) (see all 28 ):
     hsa04010 MAPK signaling pathway
     hsa04012 ErbB signaling pathway
     hsa04270 Vascular smooth muscle contraction
     hsa04370 VEGF signaling pathway
     hsa04510 Focal adhesion

       GeneDecks  RAF1 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  RAF1 


    5/184 Interacting proteins for RAF1 (P040491, 2 ENSP000002518493) via UniProtKB, MINT, and/or STRING (see all 184 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEBP1P300862, ENSP000002613133MINT-3389495 MINT-3389468 MINT-3389522 MINT-3389581 MINT-3389607 MINT-3389378 MINT-3389550 STRING (score=.999)
    PEBP4Q96S962, ENSP000002564043MINT-7014142 MINT-7014406 MINT-7014294 MINT-7014315 MINT-7014341 STRING (score=.771)
    BAG1Q999332, ENSP000002241123MINT-45862 MINT-45863 STRING (score=.981)
    YWHABP319461, ENSP000003619303EBI-365996, EBI-359815 STRING (score=.999)
    PAK1Q131532, ENSP000002785683MINT-3389399 STRING (score=.996)
    About this table

    5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468 protein amino acid phosphorylation TAS8063729
    GO:0006915 apoptosis TAS8929532
    GO:0007010 cytoskeleton organization IEA--
    GO:0007265 Ras protein signal transduction EXP11520933
    GO:0008283 cell proliferation TAS8063729
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Sigma-Aldrich Small Molecules for RAF1:
    Inhibitor

    Compounds for RAF1 available from Tocris Bioscience
    CompoundAction CAS number
    ZM 336372Potent, selective c-Raf inhibitor[208260-29-1]
    GW 5074Potent, selective c-Raf1 kinase inhibitor[220904-83-6]
    L-779,450Potent Raf kinase inhibitor[303727-31-3]
    About this table


    10/40 Novoseek chemical compound relationships for RAF1 gene (see all 40 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    gw-5074 86.72 15 15255937 (3), 16440327 (2), 19288477 (2), 16546979 (1) (see all 10)
    zm 336372 83.29 15 18063082 (3), 16603190 (2), 15956248 (2), 16909118 (1) (see all 5)
    threonine 80.64 135 9689060 (3), 7803760 (3), 7685905 (2), 1461284 (2) (see all 99)
    tyrosine 77.29 264 8622647 (5), 8662746 (5), 7692235 (5), 7542586 (4) (see all 99)
    pd 98,059 75.81 25 12389631 (2), 10727406 (1), 11703098 (1), 14736735 (1) (see all 19)
    17-(allylamino)-17-demethoxygeldanamycin 74.80 8 9622079 (1), 11280726 (1), 14506167 (1), 18281495 (1) (see all 5)
    phosphatidylinositol 67.68 70 10801448 (5), 10712905 (5), 16331688 (3), 17332339 (2) (see all 40)
    12-o-tetradecanoylphorbol 13-acetate 62.51 57 16169661 (4), 8195229 (3), 11257453 (3), 1437148 (3) (see all 25)
    adaphostin 62.09 4 16166589 (2), 14647418 (1), 16481037 (1)
    gtp 55.44 29 7623807 (2), 9199317 (2), 8576262 (2), 7604263 (2) (see all 19)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (RAF1)
    Millipore RNAi Products for the Analysis of RAF1 Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (RAF1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002880

                  Sigma-Aldrich siRNA and siRNA Panels for RAF1  
                         Sigma-Aldrich shRNA Panels and shRNA for RAF1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_002880  

    REFSEQ mRNAs for RAF1 gene: 

    NM_002880.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_002880  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_002880
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_002880
                                     untagged cDNA clones in CMV expression vector (see all 5): NM_002880 

    Additional cDNA sequence: 

    AK055589.1 AK124449.1 AK226028.1 AK303561.1 AK303920.1 AK312248.1 BC018119.2 BX648063.1 
    CR598160.1 CR608506.1 CR609564.1 CR616511.1 CR617502.1 X03484.1 

    20 DOTS entries:

    DT.100669838  DT.100669840  DT.100669848  DT.87008986  DT.91838878  DT.75151772  DT.95278225  DT.95278214 
    DT.100669835  DT.91705198  DT.120918106  DT.91993563  DT.100690754  DT.120918099  DT.120918136  DT.91695943 
    DT.92451812  DT.40190406  DT.91826781  DT.95337142 

    24/551 AceView cDNA sequences (see all 551 ):

    BQ681059 CD513500 CR617502 AA357046 BQ221403 CR608506 BM509572 BQ431831 
    BP363298 BQ682769 CN479413 BQ892795 BQ677395 H92852 CR609564 BM562649 
    BU196606 BM683631 BQ188721 AL042845 CR598160 BM770596 BQ684667 AI151178 

    highest scoring ESTs for RAF1:

    X03484 AL120772 AL517435 AL526360 AU129992 AU130456 AV685273 AV686392 BC018119 BE244097 

    Unigene Cluster for RAF1:

    V-raf-1 murine leukemia viral oncogene homolog 1
    Hs.159130  [show with all ESTs]
    Unigene Representative Sequence: NM_002880


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000251849  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    RAF1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for RAF1

    1 / 2 / 3

    4 probe-sets matching RAF1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    38743_f_at2, 3 U95-A 1 1.00 1.00 0.94 1.04 X06409 0.40 1.00 0.76 1

    1917_at2, 3 U95-A 1 1.00 1.00 0.95 0.96 X03484 1.00 1.00 1.00 1

    201244_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_002880 0.60 1.00 0.82 1

    201244_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TGTATACAAG

    SOURCE GeneReport for Unigene cluster: Hs.159130

    Expression variation in blood from EXPOLDB for RAF1

    UniProtKB/Swiss-Prot: RAF1_HUMAN, P04049
    Tissue specificity: In skeletal muscle, isoform 1 is more abundant than isoform 2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for RAF1 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    RAF11   -- v-raf-1 murine leukemia viral oncogene homolog 1 92.54(n)
    98.77(a)
    484648  XM_541762.2  XP_541762.2 
    chimpanzee
    (Pan troglodytes)
    RAF11   -- v-raf-1 murine leukemia viral oncogene homolog 1 99.74(n)
    99.85(a)
    460182  XM_001155232.1  XP_001155232.1 
    rat
    (Rattus norvegicus)
    Raf11   -- v-raf-leukemia viral oncogene 1 90.84(n)
    98.3(a)
    24703  NM_012639.2  NP_036771.1 
    mouse
    (Mus musculus)
    Raf11, 5 6 (52.50 cM)5
    v-raf-leukemia viral oncogene 11, 5 90.79(n)1
    97.69(a)1
    1101571  NM_029780.31  NP_084056.11 
     AA9905575  AB0527395  (see all 27)
    chicken
    (Gallus gallus)
    RAF11   -- v-raf-1 murine leukemia viral oncogene homolog 1 81.5(n)
    94.74(a)
    396245  NM_205307.1  NP_990638.1 
    About this table        Species with no ortholog for RAF1

    ENSEMBL Gene Tree for RAF1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for RAF1 gene
    ARAF2  BRAF2  

    Pseudogenes
    1 related pseudogene


    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/678 NCBI SNPs in RAF1 are shown (see all 678 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 178)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 3 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs38066611,2
    A,C,F,H12680855(-) GTGCCT/CCTCCT 1 -- ng314Minor allele frequency- C:0.23EU EA WA 412
    rs57462201,2
    C,F,H12616718(-) ACAGCC/TGAAAA 1 P/L mis1 ese35Minor allele frequency- T:0.01NS EU EA WA 572
    rs10512081,2
    C,F,H12600747(-) AGATGC/TGCAAG 1 -- ut31 ese319Minor allele frequency- T:0.17NS MN NA EA EU WA 1912
    rs22297571,2
    C,F12600930(-) AGAGGC/TAGAAC 1 -- ut31 ese38Minor allele frequency- T:0.02MN NS 866
    --
    rs98612711,2
    A,C12682620(+) AACATA/CATGTA 1 -- ng310--------
    --
    rs76333001,2
    A,C12682573(+) tctgtC/Tgcaaa 1 -- ng31 tfbs30--------
    --
    rs57462461,2
    C,F12600853(-) GCCTTC/TTTTTC 1 -- ut31 trp37Minor allele frequency- T:0.01NS 818
    --
    rs98606311,2
    C12682229(+) acagtA/Gaaacc 1 -- ng310--------
    rs37302711,2
    H12620694(-) CGACAT/CCCACA 1 P/S mis14Minor allele frequency- C:0.00EU EA WA 406
    --
    rs130697261,2
    A12681648(+) tggcgG/Tgcgcc 1 -- ng310--------
    About this table

    HapMap Linkage Disequilibrium images for RAF1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 164760   disorders: 611553  611554  

    UniProtKB/Swiss-Prot: RAF1_HUMAN, P04049

  • Defects in RAF1 are the cause of Noonan syndrome type 5 (NS5) [MIM:611553]. Noonan
    syndrome (NS) is a disorder characterized by dysmorphic facial features, short stature,
    hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. It is a
    genetically heterogeneous and relatively common syndrome, with an estimated incidence of 1 in
    1000-2500 live births
  • Defects in RAF1 are the cause of LEOPARD syndrome type 2 (LEOPARD syndrome-2)
    [MIM:611554]. LEOPARD syndrome is an autosomal dominant disorder allelic with Noonan syndrome. The
    acronym LEOPARD stands for lentigines, electrocardiographic conduction abnormalities, ocular
    hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness
  • 10/82 Novoseek disease relationships for RAF1 gene (see all 82 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 53.70 68 12781369 (3), 18221149 (2), 17555829 (2), 16170185 (2) (see all 54)
    tumors 51.89 176 16926634 (6), 8451761 (3), 15803144 (3), 10830717 (3) (see all 98)
    viral leukemia 50.92 3 1783381 (1), 15845465 (1), 10449917 (1)
    shock 46.15 27 9622079 (1), 11280726 (1), 14724288 (1), 15338192 (1) (see all 25)
    leukemia 35.25 22 16250879 (3), 12903397 (3), 9632143 (2), 9242431 (1) (see all 14)
    neuroendocrine tumors 33.61 3 12490852 (1), 8751579 (1), 16428931 (1)
    myeloid leukemia 33.38 9 16883571 (1), 8288641 (1), 12536201 (1), 8207958 (1) (see all 6)
    solid tumor 31.83 4 15585643 (1), 16498671 (1), 16890795 (1)
    melanoma 31.76 16 17018604 (3), 17699719 (2), 14654778 (2), 19052265 (2) (see all 10)
    noonan syndrome 31.21 3 17603483 (2), 18064648 (1)
    About this table

    GeneTests: RAF1
    LEOPARD Syndrome

    Human Gene Mutation Database: RAF1
    Human Genome Epidemiology Navigator: RAF1 (5 documents)
    Tumor Gene Database: RAF1

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/1287 PubMed articles for RAF1 gene (see all 1287 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 5894 HGNC: 9829 AceView: RAF1 Ensembl:ENSG00000132155 euGenes: HUgn5894
    ECgene: RAF1 H-InvDB: RAF1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for RAF1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.genetests.org/query?gene=RAF1
    NIEHS-SNPshttp://egp.gs.washington.edu/data/raf1/
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for RAF1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
      Invitrogen Clones  Invitrogen Q-PCR Products
      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for RAF1-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for RAF1 Antibodies for RAF1
     Explore super-pooled esiRNAs Proteins for RAF1
     Lentivirus-delivered shRNAs for RAF1 Small molecules for RAF1
     "Your Favorite Gene" Pathwaysfeedback


      
     Antibodies   Primer Pairs  
     Cell Culture Products   ELISAs  
     Flow Cytometry Kits   Protease Activity Assays & Reagents  
     Cell Selection/Detection Kits & Reagents   ELISA/Assay Development Kits & Reagents  
     Multiplex/Array Assay Kits & Reagents   ELISpot Kits & Development Modules  
     Recombinant & Natural Proteins  

     Recombinant Proteins (RAF1)
     Search for Antibodies
     Chimera RNAi (RAF1)
     Custom Service for Mouse Mab
     Custom Service for Rabbit Pab from Full-length Protein
      
     Antibodies & Assays for RAF1  (c-Raf)

     Recombinant Proteins
    (Raf1)
     Antibodies (Raf1)
     Search OriGene for RAF1
     Tocris compounds for RAF1




     Proteins for RAF1
     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for RAF1

    GeneCards Homepage    -    Last full update: 2 Jul 2009        Incremental update: 13 Oct 2009

    Random Gene From GIFtS : about GIFtS

    Gene Index:   3   5   A   B   C   D   E   F   G   H   I   J   K   L   M   N   O   P   Q   R   S   T   U   V   W   X   Y   Z

    Developed at the Crown Human Genome Center & Weizmann Institute of Science



    The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
    RAF1 Gene at Home site.
    Version 2.41.1
    server5.xennexinc.com