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Aliases for RAF1 Gene

Aliases for RAF1 Gene

  • Raf-1 Proto-Oncogene, Serine/Threonine Kinase 2 3
  • CRAF 3 4 6
  • V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1 2 3
  • Proto-Oncogene C-RAF 3 4
  • EC 2.7.11.1 4 63
  • Raf-1 3 4
  • NS5 3 6
  • RAF Proto-Oncogene Serine/Threonine-Protein Kinase 3
  • Raf Proto-Oncogene Serine/Threonine Protein Kinase 3
  • C-Raf Proto-Oncogene, Serine/Threonine Kinase 3
  • Serine/Threonine Kinase 2
  • C-Raf Proto-Oncogene 2
  • Oncogene RAF1 3
  • EC 2.7.11 63
  • CMD1NN 3
  • C-Raf 3
  • RAF 4

External Ids for RAF1 Gene

Previous GeneCards Identifiers for RAF1 Gene

  • GC03M012554
  • GC03M012600
  • GC03M012559
  • GC03M012625

Summaries for RAF1 Gene

Entrez Gene Summary for RAF1 Gene

  • 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, Jul 2008]

GeneCards Summary for RAF1 Gene

RAF1 (Raf-1 Proto-Oncogene, Serine/Threonine Kinase) is a Protein Coding gene. Diseases associated with RAF1 include noonan syndrome 5 and leopard syndrome 2. Among its related pathways are PI3K-Akt signaling pathway and PI-3K cascade. GO annotations related to this gene include identical protein binding and protein serine/threonine kinase activity. An important paralog of this gene is MAP3K9.

UniProtKB/Swiss-Prot for RAF1 Gene

  • Serine/threonine-protein kinase that acts as a regulatory link between the membrane-associated Ras GTPases and the MAPK/ERK cascade, and this critical regulatory link functions as a switch determining cell fate decisions including proliferation, differentiation, apoptosis, survival and oncogenic transformation. RAF1 activation initiates a mitogen-activated protein kinase (MAPK) cascade that comprises a sequential phosphorylation of the dual-specific MAPK kinases (MAP2K1/MEK1 and MAP2K2/MEK2) and the extracellular signal-regulated kinases (MAPK3/ERK1 and MAPK1/ERK2). The phosphorylated form of RAF1 (on residues Ser-338 and Ser-339, by PAK1) phosphorylates BAD/Bcl2-antagonist of cell death at Ser-75. Phosphorylates adenylyl cyclases: ADCY2, ADCY5 and ADCY6, resulting in their activation. Phosphorylates PPP1R12A resulting in inhibition of the phosphatase activity. Phosphorylates TNNT2/cardiac muscle troponin T. Can promote NF-kB activation and inhibit signal transducers involved in motility (ROCK2), apoptosis (MAP3K5/ASK1 and STK3/MST2), proliferation and angiogenesis (RB1). Can protect cells from apoptosis also by translocating to the mitochondria where it binds BCL2 and displaces BAD/Bcl2-antagonist of cell death. Regulates Rho signaling and migration, and is required for normal wound healing. Plays a role in the oncogenic transformation of epithelial cells via repression of the TJ protein, occludin (OCLN) by inducing the up-regulation of a transcriptional repressor SNAI2/SLUG, which induces down-regulation of OCLN. Restricts caspase activation in response to selected stimuli, notably Fas stimulation, pathogen-mediated macrophage apoptosis, and erythroid differentiation.

Tocris Summary for RAF1 Gene

  • Raf kinases, a family of three serine/threonine kinases, are part of the ras-MAPK signaling cascade and phosphorylate MEK. Upon growth factor stimulation, Raf-1 (or c-Raf) is activated by GTP-bound Ras and recruited to the cell membrane. This activation process is tightly regulated by a number of factors including phosphatases (e.g. PP1, PP2A, PP5), kinases (e.g. Src, ERK, Akt, PKC) and proteins that bind directly to Raf-1 (e.g. RKIP, 14-3-3zeta, KSR, Hsp90). Raf-1 is also thought to be able to dimerize with wild type B-Raf in a Ras-dependent process. B-raf is commonly mutated and thereby activated in many human cancers, the most frequent mutation being the V600E mutation of the kinase domain. Whilst wt b-Raf and Raf-1 are strongly activated by growth factor signals via Ras and Src, a-Raf is only modestly activated and has low basal activity. All three isoforms of Raf are considered to be oncogenic.

Gene Wiki entry for RAF1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAF1 Gene

Genomics for RAF1 Gene

Regulatory Elements for RAF1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RAF1 Gene

Start:
12,583,601 bp from pter
End:
12,664,226 bp from pter
Size:
80,626 bases
Orientation:
Minus strand

Genomic View for RAF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAF1 Gene

Proteins for RAF1 Gene

  • Protein details for RAF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04049-RAF1_HUMAN
    Recommended name:
    RAF proto-oncogene serine/threonine-protein kinase
    Protein Accession:
    P04049
    Secondary Accessions:
    • B0LPH8
    • B2R5N3
    • Q15278
    • Q9UC20

    Protein attributes for RAF1 Gene

    Size:
    648 amino acids
    Molecular mass:
    73052 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 2 Zn(2+) ions per subunit.;
    Quaternary structure:
    • Monomer. Homodimer. Heterodimerizes with BRAF and this heterodimer possesses a highly increased kinase activity compared to the respective homodimers or monomers. Heterodimerization is mitogen-regulated and enhanced by 14-3-3 proteins. MAPK1/ERK2 activation can induce a negative feedback that promotes the dissociation of the heterodimer. Forms a multiprotein complex with Ras (M-Ras/MRAS), SHOC2 and protein phosphatase 1 (PPP1CA, PPP1CB and PPP1CC). Interacts with Ras proteins; the interaction is antagonized by RIN1. Weakly interacts with RIT1. Interacts (via N-terminus) with RGS14 (via RBD domains); the interaction mediates the formation of a ternary complex with BRAF, a ternary complex inhibited by GNAI1 (By similarity). Interacts with STK3/MST2; the interaction inhibits its pro-apoptotic activity. Interacts (when phosphorylated at Ser-259) with YWHAZ (unphosphorylated at Thr-232). Interacts with MAP2K1/MEK1 and MAP2K2/MEK2 (By similarity). Interacts with MAP3K5/ASF1 (via N-terminus) and this interaction inhibits the proapoptotic function of MAP3K5/ASK1. Interacts with PAK1 (via kinase domain). The phosphorylated form interacts with PIN1. The Ser-338 and Ser-339 phosphorylated form (by PAK1) interacts with BCL2. Interacts with PEBP1/RKIP and this interaction is enhanced if RAF1 is phosphorylated on residues Ser-338, Ser-339, Tyr-340 and Tyr-341. Interacts with ADCY2, ADCY5, ADCY6, DGKH, RCAN1/DSCR1, ROCK2, PPP1R12A, PKB/AKT1, PPP2CA, PPP2R1B, SPRY2, SPRY4, CNKSR1/CNK1, KSR2 and PHB/prohibitin. In its active form, interacts with PRMT5.

    Three dimensional structures from OCA and Proteopedia for RAF1 Gene

    Alternative splice isoforms for RAF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAF1 Gene

Proteomics data for RAF1 Gene at MOPED

Post-translational modifications for RAF1 Gene

  • Methylated at Arg-563 in response to EGF treatment. This modification leads to destabilization of the protein, possibly through proteasomal degradation.
  • Phosphorylation at Thr-269, Ser-338, Tyr-341, Thr-491 and Ser-494 results in its activation. Phosphorylation at Ser-29, Ser-43, Ser-289, Ser-296, Ser-301 and Ser-642 by MAPK1/ERK2 results in its inactivation. Phosphorylation at Ser-259 induces the interaction with YWHAZ and inactivates kinase activity. Dephosphorylation of Ser-259 by the complex containing protein phosphatase 1, SHOC2 and M-Ras/MRAS relieves inactivation, leading to stimulate RAF1 activity. Phosphorylation at Ser-338 by PAK1 and PAK7/PAK5 and Ser-339 by PAK1 is required for its mitochondrial localization. Phosphorylation at Ser-621 in response to growth factor treatment stabilizes the protein, possibly by preventing proteasomal degradation. Phosphorylation at Ser-289, Ser-296, Ser-301, Ser-338 and Ser-621 are somehow linked to the methylation potential of cells. Treatment of cells with HGF in the presence of the methylation inhibitor 5-methylthioadenosine (MTA) results in increased phosphorylation at Ser-338 and Ser-621 and decreased phosphorylation at Ser-296, Ser-301 and Ser-338. Dephosphorylation at Ser-338 by PPP5C results in a activity decrease.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAF1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RAF1 (RAF1)

Domains for RAF1 Gene

Gene Families for RAF1 Gene

Graphical View of Domain Structure for InterPro Entry

P04049

UniProtKB/Swiss-Prot:

RAF1_HUMAN :
  • P04049
Domain:
  • Contains 1 protein kinase domain.
  • Contains 1 RBD (Ras-binding) domain.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily.
Similarity:
  • Contains 1 phorbol-ester/DAG-type zinc finger.
genes like me logo Genes that share domains with RAF1: view

Function for RAF1 Gene

Molecular function for RAF1 Gene

GENATLAS Biochemistry:
murine sarcoma viral (v-raf-1) oncogene homolog 1 (mitogenic factor) interacting with TC21 for activation and translocation to plasma membrane
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulation is a highly complex process involving membrane recruitment, protein-protein interactions, dimerization, and phosphorylation/dephosphorylation events. Ras-GTP recruits RAF1 to the membrane, thereby promoting its activation. The inactive conformation of RAF1 is maintained by autoinhibitory interactions occurring between the N-terminal regulatory and the C-terminal catalytic domains and by the binding of a 14-3-3 protein that contacts two phosphorylation sites, Ser-259 and Ser-621. Upon mitogenic stimulation, Ras and PPP2R1A cooperate to release autoinhibition and the subsequent phosphorylation of activating sites: Ser-338, Tyr-341, Thr-491, and Ser-494, yields a fully active kinase. Through a negative feedback mechanism involving MAPK1/ERK2, RAF1 is phosphorylated on Ser-29, Ser-43, Ser-289, Ser-296, Ser-301 and Ser-642 by MAPK1/ERK2, which yields an inactive, desensitized kinase. The signaling-competent conformation of RAF1 is finally re-established by the coordinated action of PIN1, a prolyl isomerase that converts pSer and pThr residues from the cis to the trans conformation, which is preferentially recognized and dephosphorylated by PPP2R1A. Activated by homodimerization and heterodimerization (with BRAF). Also regulated through association with other proteins such as KSR2, CNKSR1/CNK1, PEBP1/RKIP, PHB/prohibitin and SPRY4. PEBP1/RKIP acts by dissociating RAF1 from its substrates MAP2K1/MEK1 and MAP2K2/MEK2. PHB/prohibitin facilitates the displacement of 14-3-3 from RAF1 by activated Ras, thereby promoting cell membrane localization and phosphorylation of RAF1 at the activating Ser-338. SPRY4 inhibits Ras-independent, but not Ras-dependent, activation of RAF1. CNKSR1/CNK1 regulates Src-mediated RAF1 activation.
UniProtKB/Swiss-Prot Function:
Serine/threonine-protein kinase that acts as a regulatory link between the membrane-associated Ras GTPases and the MAPK/ERK cascade, and this critical regulatory link functions as a switch determining cell fate decisions including proliferation, differentiation, apoptosis, survival and oncogenic transformation. RAF1 activation initiates a mitogen-activated protein kinase (MAPK) cascade that comprises a sequential phosphorylation of the dual-specific MAPK kinases (MAP2K1/MEK1 and MAP2K2/MEK2) and the extracellular signal-regulated kinases (MAPK3/ERK1 and MAPK1/ERK2). The phosphorylated form of RAF1 (on residues Ser-338 and Ser-339, by PAK1) phosphorylates BAD/Bcl2-antagonist of cell death at Ser-75. Phosphorylates adenylyl cyclases: ADCY2, ADCY5 and ADCY6, resulting in their activation. Phosphorylates PPP1R12A resulting in inhibition of the phosphatase activity. Phosphorylates TNNT2/cardiac muscle troponin T. Can promote NF-kB activation and inhibit signal transducers involved in motility (ROCK2), apoptosis (MAP3K5/ASK1 and STK3/MST2), proliferation and angiogenesis (RB1). Can protect cells from apoptosis also by translocating to the mitochondria where it binds BCL2 and displaces BAD/Bcl2-antagonist of cell death. Regulates Rho signaling and migration, and is required for normal wound healing. Plays a role in the oncogenic transformation of epithelial cells via repression of the TJ protein, occludin (OCLN) by inducing the up-regulation of a transcriptional repressor SNAI2/SLUG, which induces down-regulation of OCLN. Restricts caspase activation in response to selected stimuli, notably Fas stimulation, pathogen-mediated macrophage apoptosis, and erythroid differentiation.

Enzyme Numbers (IUBMB) for RAF1 Gene

Gene Ontology (GO) - Molecular Function for RAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity TAS 8063729
GO:0004674 protein serine/threonine kinase activity IDA 19667065
GO:0004709 MAP kinase kinase kinase activity IEA --
GO:0004713 protein tyrosine kinase activity --
GO:0005057 receptor signaling protein activity --
genes like me logo Genes that share ontologies with RAF1: view
genes like me logo Genes that share phenotypes with RAF1: view

Animal Models for RAF1 Gene

MGI Knock Outs for RAF1:

Animal Model Products

miRNA for RAF1 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RAF1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for RAF1 Gene

Localization for RAF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAF1 Gene

Cytoplasm. Cell membrane. Mitochondrion. Nucleus. Note=Colocalizes with RGS14 and BRAF in both the cytoplasm and membranes. Phosphorylation at Ser-259 impairs its membrane accumulation. Recruited to the cell membrane by the active Ras protein. Phosphorylation at Ser-338 and Ser-339 by PAK1 is required for its mitochondrial localization. Retinoic acid-induced Ser-621 phosphorylated form of RAF1 is predominantly localized at the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAF1 Gene COMPARTMENTS Subcellular localization image for RAF1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 5
cytosol 4

Gene Ontology (GO) - Cellular Components for RAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm ISS --
GO:0005741 mitochondrial outer membrane TAS 8929532
GO:0005794 Golgi apparatus IPI 17724343
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RAF1: view

Pathways for RAF1 Gene

SuperPathways for RAF1 Gene

Superpath Contained pathways
1 Signaling by FGFR
2 Insulin receptor signalling cascade
3 IL-2 Pathway
4 IL-9 Signaling Pathways
5 Translation Insulin regulation of translation
genes like me logo Genes that share pathways with RAF1: view

Pathways by source for RAF1 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for RAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0001666 response to hypoxia IEA --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0006468 protein phosphorylation IEA --
genes like me logo Genes that share ontologies with RAF1: view

Compounds for RAF1 Gene

Compound Products

(5) Tocris Compounds for RAF1 Gene

Compound Action Cas Number
AZ 628 Potent Raf kinase inhibitor [878739-06-1]
GDC 0879 Potent B-Raf inhibitor [905281-76-7]
GW 5074 Potent, selective c-Raf1 kinase inhibitor [220904-83-6]
ML 786 dihydrochloride Potent Raf kinase inhibitor; orally bioavailable [1237536-18-3]
SB 590885 Potent B-Raf inhibitor [405554-55-4]

(10) ApexBio Compounds for RAF1 Gene

Compound Action Cas Number
AZ 628 "Raf kinases,potent and ATP-competitive" [878739-06-1]
CEP-32496 "BRAF(V600E)inhibitor,highly potent" [1188910-76-0]
GDC-0879 "B-Raf inhibitor,potent and selective" [905281-76-7]
GW5074 "C-Raf inhibitor,potent and selective" [220904-83-6]
LGX818 "RAF inhibitor,potent and selective" [1269440-17-6]
RAF265 Multiple intracellular kinases inhibitor [927880-90-8]
Sorafenib Raf kinases and tyrosine kinases inhibitor [284461-73-0]
Sorafenib Tosylate Raf kinases and tyrosine kinases inhibitor [475207-59-1]
TAK-632 "Pan-RAF inhibitor,potent and selective" [1228591-30-7]
ZM336372 "C-Raf inhibitor, potent and selective" [208260-29-1]

(845) HMDB Compounds for RAF1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
DG(14:0/14:0/0:0)
  • DAG(14:0/14:0)
Not Available
DG(14:0/14:1(9Z)/0:0)
  • DAG(14:0/14:1)
Not Available
DG(14:0/15:0/0:0)
  • Diacylglycerol(29:0)
Not Available

(3) Drugbank Compounds for RAF1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Dabrafenib
target inhibitor
Regorafenib
755037-03-7 target inhibitor
Sorafenib
284461-73-0 target inhibitor

(127) Novoseek inferred chemical compound relationships for RAF1 Gene

Compound -log(P) Hits PubMed IDs
gw-5074 88.1 18
zm 336372 80.8 9
threonine 80.2 107
tyrosine 77.2 153
pd 98,059 76.2 21
genes like me logo Genes that share compounds with RAF1: view

Transcripts for RAF1 Gene

Unigene Clusters for RAF1 Gene

V-raf-1 murine leukemia viral oncogene homolog 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RAF1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAF1 Gene

No ASD Table

Relevant External Links for RAF1 Gene

GeneLoc Exon Structure for
RAF1
ECgene alternative splicing isoforms for
RAF1

Expression for RAF1 Gene

mRNA expression in normal human tissues for RAF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAF1 Gene

This gene is overexpressed in Muscle - Skeletal (4.3).

Protein differential expression in normal tissues for RAF1 Gene

This gene is overexpressed in Heart (11.8), Fetal Brain (7.3), and Peripheral blood mononuclear cells (7.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAF1 Gene

SOURCE GeneReport for Unigene cluster for RAF1 Gene Hs.159130

mRNA Expression by UniProt/SwissProt for RAF1 Gene

P04049-RAF1_HUMAN
Tissue specificity: In skeletal muscle, isoform 1 is more abundant than isoform 2.
genes like me logo Genes that share expressions with RAF1: view

Expression partners for RAF1 Gene

In Situ Assay Products

Orthologs for RAF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAF1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia RAF1 35
  • 92.54 (n)
  • 98.77 (a)
RAF1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Raf1 35
  • 90.79 (n)
  • 97.69 (a)
Raf1 16
Raf1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAF1 35
  • 99.74 (n)
  • 99.85 (a)
RAF1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Raf1 35
  • 90.84 (n)
  • 98.3 (a)
cow
(Bos Taurus)
Mammalia RAF1 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAF1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAF1 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAF1 35
  • 81.4 (n)
  • 94.59 (a)
RAF1 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAF1 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia raf1 35
  • 75.91 (n)
  • 88.09 (a)
Str.2374 35
African clawed frog
(Xenopus laevis)
Amphibia c-raf 35
zebrafish
(Danio rerio)
Actinopterygii craf 35
raf1b 35
  • 71.55 (n)
  • 80.35 (a)
raf1a 36
  • 75 (a)
OneToMany
raf1a 36
  • 87 (a)
OneToMany
raf1b 36
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta phl 37
  • 47 (a)
phl 36
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lin-45 37
  • 54 (a)
lin-45 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10630 36
  • 37 (a)
OneToMany
Species with no ortholog for RAF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAF1 Gene

ENSEMBL:
Gene Tree for RAF1 (if available)
TreeFam:
Gene Tree for RAF1 (if available)

Paralogs for RAF1 Gene

Pseudogenes.org Pseudogenes for RAF1 Gene

genes like me logo Genes that share paralogs with RAF1: view

Variants for RAF1 Gene

Sequence variations from dbSNP and Humsavar for RAF1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs904452 -- 12,601,514(-) GGTTT(C/T)ATATT intron-variant
rs904453 -- 12,663,395(-) GACAC(A/C)CTTTT intron-variant, utr-variant-5-prime
rs904464 -- 12,601,450(-) CTCAT(A/G)GAGCC intron-variant
rs963163 -- 12,615,568(+) TTCCT(C/G)AAGCT intron-variant
rs963959 -- 12,608,438(-) CTACT(A/G)GGGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAF1 Gene

Variant ID Type Subtype PubMed ID
dgv810e201 CNV Deletion 23290073
dgv850e199 CNV Deletion 23128226
nsv7351 OTHER Inversion 18451855
esv2751977 CNV Gain 17911159
nsv876541 CNV Gain 21882294
dgv597n27 CNV Gain 19166990
nsv470394 CNV Gain 18288195
esv25162 CNV Loss 19812545

Relevant External Links for RAF1 Gene

HapMap Linkage Disequilibrium report
RAF1
Human Gene Mutation Database (HGMD)
RAF1

PCR Panel Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAF1 Gene

Disorders for RAF1 Gene

(2) OMIM Diseases for RAF1 Gene (164760)

UniProtKB/Swiss-Prot

RAF1_HUMAN
  • Noonan syndrome 5 (NS5) [MIM:611553]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269 PubMed:17603482, ECO:0000269 PubMed:17603483, ECO:0000269 PubMed:20683980}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • LEOPARD syndrome 2 (LPRD2) [MIM:611554]: A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. {ECO:0000269 PubMed:17603483}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1NN (CMD1NN) [MIM:615916]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:24777450}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(85) Novoseek inferred disease relationships for RAF1 Gene

Disease -log(P) Hits PubMed IDs
noonan syndrome 58.6 7
cancer 55.9 73
tumors 53 130
viral leukemia 46.5 3
shock 45.8 26

Relevant External Links for RAF1

GeneTests
RAF1
GeneReviews
RAF1
Genetic Association Database (GAD)
RAF1
Human Genome Epidemiology (HuGE) Navigator
RAF1
Tumor Gene Database (TGDB):
RAF1
genes like me logo Genes that share disorders with RAF1: view

No data available for Genatlas for RAF1 Gene

Publications for RAF1 Gene

  1. The solution structure of the Raf-1 cysteine-rich domain: a novel ras and phospholipid binding site. (PMID: 8710867) Mott H.R. … Campbell S.L. (Proc. Natl. Acad. Sci. U.S.A. 1996) 3 4 23
  2. The protein kinase Pak3 positively regulates Raf-1 activity through phosphorylation of serine 338. (PMID: 9823899) King A.J. … Marshall M.S. (Nature 1998) 3 4 23
  3. Phosphorylation of Raf by ceramide-activated protein kinase. (PMID: 7477354) Yao B. … Kolesnick R. (Nature 1995) 3 4 23
  4. Raf-1 promotes cell survival by antagonizing apoptosis signal- regulating kinase 1 through a MEK-ERK independent mechanism. (PMID: 11427728) Chen J. … Fu H. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4 23
  5. Interaction between active Pak1 and Raf-1 is necessary for phosphorylation and activation of Raf-1. (PMID: 11733498) Zang M. … Luo Z. (J. Biol. Chem. 2002) 3 4 23

Products for RAF1 Gene

  • Addgene plasmids for RAF1

Sources for RAF1 Gene

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