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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FGFR1 Gene

protein-coding   GIFtS: 80
GCID: GC08M038268

Fibroblast Growth Factor Receptor 1

(Previous name: fms-related tyrosine kinase 2)
(Previous symbols: FLT2, KAL2)
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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)
About This Section

Aliases
Fibroblast Growth Factor Receptor 11 2     bFGF-R-12 3
FLT21 2 3 5     EC 2.7.10.13 8
KAL21 2 5     OGD2 5
Fms-Related Tyrosine Kinase 21 2     Pfeiffer Syndrome1
Basic Fibroblast Growth Factor Receptor 12 3     CD3312
Fms-Like Tyrosine Kinase 22 3     HH22
Proto-Oncogene C-Fgr2 3     N-SAM2
BFGFR2 3     FGFR1/PLAG1 Fusion2
CEK2 3     Heparin-Binding Growth Factor Receptor2
FGFBR2 3     Hydroxyaryl-Protein Kinase2
FGFR-12 3     N-sam3
FLG2 3     CD331 Antigen3
FLT-22 3     EC 2.7.108
HBGFR2 3     

External Ids:    HGNC: 36881   Entrez Gene: 22602   Ensembl: ENSG000000777827   OMIM: 1363505   UniProtKB: P113623   

Export aliases for FGFR1 gene to outside databases

Previous GC identifers: GC08M037810 GC08M038400 GC08M038011 GC08M038287 GC08M038389 GC08M036802


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

Entrez Gene summary for FGFR1 Gene:
The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino
acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one
another in their ligand affinities and tissue distribution. A full-length representative protein consists of an
extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning
segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with
fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis
and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is
involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss
syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2.
Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem
cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been
described; however, not all variants have been fully characterized. (provided by RefSeq, Jul 2008)

GeneCards Summary for FGFR1 Gene: 
FGFR1 (fibroblast growth factor receptor 1) is a protein-coding gene. Diseases associated with FGFR1 include osteoglophonic dysplasia, and myeloid neoplasm associated with fgfr1 rearrangement, and among its related super-pathways are Glioma and Development FGF-family signaling. GO annotations related to this gene include heparin binding and protein homodimerization activity. An important paralog of this gene is FLT4.

UniProtKB/Swiss-Prot: FGFR1_HUMAN, P11362
Function: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an
essential role in the regulation of embryonic development, cell proliferation, differentiation and migration.
Required for normal mesoderm patterning and correct axial organization during embryonic development, normal
skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system.
Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activation of several signaling cascades.
Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol
1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates
activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling
pathway. Promotes phosphorylation of SHC1, STAT1 and PTPN11/SHP2. In the nucleus, enhances RPS6KA1 and CREB1
activity and contributes to the regulation of transcription. FGFR1 signaling is down-regulated by IL17RD/SEF, and
by FGFR1 ubiquitination, internalization and degradation

summary for FGFR1 Gene:
Fibroblast growth factors (FGFs) (FGF1 - 10 and 16 - 23) are mitogenic signaling molecules that have roles
in angiogenesis, wound healing, cell migration, neural outgrowth and embryonic development. FGFs bind
heparan sulfate glycosaminoglycans (HSGAGs), which facilitates dimerization (activation) of FGF receptors
(FGFRs). FGFRs are transmembrane catalytic receptors that have intracellular tyrosine kinase activity. There
are four human genes encoding FGFRs, which produce seven different receptors (FGFR1b, FGFR1c, FGFR2b,
FGFR2c, FGFR3b, FGFR3c and FGFR4) due to alternative splicing events occurring both in the extracellular and
intracellular regions. The alternative splice isoforms are generally tissue specific: the b isoform is
expressed in epithelial tissue, whereas the c isoform is expressed in mesenchymal tissue. HSGAG-FGF-FGFR
binding initiates FGFR dimerization, enabling the cytoplasmic kinase domains to transphosphorylate tyrosine
residues and become activated. HSGAGs also function to stabilize FGF-FGFR binding and prevent FGF
degradation. FGFRs couple to the PLCgamma, MAPK and PI3-K/Akt intracellular signaling cascades and there is
evidence of cross talk with the Notch signaling pathway. In addition, some activated FGF-FGFR complexes are
endocytosed and function directly in the cytosol and/or nucleus of the cell. Mutations in FGFR genes are the
cause of several human developmental disorders characterized by skeletal abnormalities such as
achondroplasia, and upregulation of FGFR expression may lead to cell transformation and cancer.

Gene Wiki entry for FGFR1 (Fibroblast growth factor receptor 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_167187.1  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FGFR1 gene promoter:
         CREB   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFGFR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FGFR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FGFR1


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

Entrez Gene cytogenetic band: 8p12   Ensembl cytogenetic band:  8p11.22   HGNC cytogenetic band: 8p12

FGFR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FGFR1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M038268:  view genomic region     (about GC identifiers)

Start:
38,268,656 bp from pter      End:
38,326,352 bp from pter
Size:
57,697 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FGFR1_HUMAN, P11362 (See protein sequence)
Recommended Name: Fibroblast growth factor receptor 1 precursor  
Size: 822 amino acids; 91868 Da
Subunit: Monomer. Homodimer after ligand binding. Interacts predominantly with FGF1 and FGF2, but can also
interact with FGF3, FGF4, FGF5, FGF6, FGF8, FGF10, FGF19, FGF21, FGF22 and FGF23 (in vitro). Ligand specificity
is determined by tissue-specific expression of isoforms, and differences in the third Ig-like domain are crucial
for ligand specificity. Affinity for fibroblast growth factors (FGFs) is increased by heparan sulfate
glycosaminoglycans that function as coreceptors. Likewise, KLB increases the affinity for FGF19, FGF21 and FGF23.
Interacts (phosphorylated on Tyr-766) with PLCG1 (via SH2 domains). Interacts with FRS2. Interacts (via
C-terminus) with NEDD4 (via WW3 domain). Interacts with KL (By similarity). Interacts with SHB (via SH2 domain)
and GRB10. Interacts with KAL1; this interaction does not interfere with FGF2-binding to FGFR1, but prevents
binding of heparin-bound FGF2. Interacts with SOX2 and SOX3 (By similarity)
Subcellular location: Cell membrane; Single-pass type I membrane protein. Nucleus. Cytoplasm, cytosol. Cytoplasmic
vesicle. Note=After ligand binding, both receptor and ligand are rapidly internalized. Can translocate to the
nucleus after internalization, or by translocation from the endoplasmic reticulum or Golgi apparatus to the
cytosol, and from there to the nucleus
Sequence caution: Sequence=BAD92156.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
6/23 PDB 3D structures from and Proteopedia for FGFR1 (see all 23):
1AGW (3D)        1CVS (3D)        1EVT (3D)        1FGI (3D)        1FGK (3D)        1FQ9 (3D)    
Secondary accessions: A8K6T9 A8K8V5 C1KBH8 P17049 Q02063 Q02065 Q14306 Q14307 Q53H63 Q59H40
Q5BJG2 Q8N685 Q9UD50 Q9UDF0 Q9UDF1 Q9UDF2
Alternative splicing: 21 isoforms:  P11362-1   P11362-8   P11362-17   P11362-2   P11362-9   P11362-3   P11362-10   P11362-4   
P11362-11   P11362-5   P11362-12   P11362-6   P11362-13   P11362-7   P11362-14   P11362-15   
P11362-16   P11362-18   P11362-19   P11362-20   P11362-21   

Explore the universe of human proteins at neXtProt for FGFR1: NX_P11362

Explore proteomics data for FGFR1 at MOPED 

Post-translational modifications:

  • UniProtKB: Autophosphorylated. Binding of FGF family members together with heparan sulfate proteoglycan or heparin promotes
    receptor dimerization and autophosphorylation on tyrosine residues. Autophosphorylation occurs in trans between
    the two FGFR molecules present in the dimer and proceeds in a highly ordered manner. Initial autophosphorylation
    at Tyr-653 increases the kinase activity by a factor of 50 to 100. After this, Tyr-583 becomes phosphorylated,
    followed by phosphorylation of Tyr-463, Tyr-766, Tyr-583 and Tyr-585. In a third stage, Tyr-654 is
    autophosphorylated, resulting in a further tenfold increase of kinase activity. Phosphotyrosine residues provide
    docking sites for interacting proteins and so are crucial for FGFR1 function and its regulation
  • UniProtKB: Ubiquitinated. FGFR1 is rapidly ubiquitinated by NEDD4 after autophosphorylation, leading to internalization and
    lysosomal degradation. CBL is recruited to activated FGFR1 via FRS2 and GRB2, and mediates ubiquitination and
    subsequent degradation of FGFR1
  • UniProtKB: N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant
    form in the Golgi apparatus
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P11362

  • 4/54 DME Specific Peptides for FGFR1 (P11362) (see all 54)
     SHHSAWL  DVQSINW  QVARGME  NCTNELY 

    FGFR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FGFR1 Protein Expression
    REFSEQ proteins (9 alternative transcripts): 
    NP_001167534.1  NP_001167535.1  NP_001167536.1  NP_001167537.1  NP_001167538.1  NP_056934.2  NP_075593.1  NP_075594.1  
    NP_075598.2  

    ENSEMBL proteins: 
     ENSP00000380280   ENSP00000432972   ENSP00000380302   ENSP00000348537   ENSP00000337247  
     ENSP00000327229   ENSP00000380292   ENSP00000434800   ENSP00000380297   ENSP00000435254  
     ENSP00000434869   ENSP00000434712   ENSP00000433569   ENSP00000435283   ENSP00000433163  
     ENSP00000434473   ENSP00000392645   ENSP00000400708   ENSP00000398318   ENSP00000393312  
     ENSP00000400162   ENSP00000340636  
    Reactome Protein details: P11362
    Human Recombinant Protein Products for FGFR1: 
    EMD Millipore Purified and/or Recombinant FGFR1 Protein
    R&D Systems Recombinant & Natural Proteins for FGFR1 (FGF R1, FGF R1 beta)
    Enzo Life Sciences proteins for FGFR1
    OriGene Purified Proteins for FGFR1
    OriGene Protein Over-expression Lysate for FGFR1
    OriGene MassSpec for FGFR1 
    OriGene Custom Protein Services for FGFR1
    GenScript Custom Purified and Recombinant Proteins Services for FGFR1
    Novus Biologicals FGFR1 Proteins
    Novus Biologicals FGFR1 Lysates
    Sino Biological Recombinant Protein for FGFR1
    Sino Biological Cell Lysate for FGFR1 
    ProSpec Recombinant Protein for FGFR1
    Cloud-Clone Corp. Proteins for FGFR1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS1652059
    GO:0005634nucleus IEA--
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS10918587

    FGFR1 for ontologies           About GeneDecksing



    FGFR1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of FGFR1
    R&D Systems Antibodies for FGFR1 (FGF R1, FGF R1 beta)
    Cell Signaling Technology (CST) Antibodies for FGFR1 
    OriGene Antibodies for FGFR1
    OriGene Custom Antibody Services for FGFR1
    GenScript Superior Antibodies for FGFR1
    Novus Biologicals FGFR1 Antibodies
    Abcam antibodies for FGFR1
    Cloud-Clone Corp. Antibodies for FGFR1 
    ThermoFisher Antibody for FGFR1
    LSBio Antibodies in human, mouse, rat for FGFR1 

    Assay Products for FGFR1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for FGFR1
    R&D Systems ELISAs for FGFR1 (FGF R1)         (see all)
    GenScript FGFR1-Activity-based Kinase Assay for Compound Screening
    Cell Signaling Technology (CST) Sandwich ELISA Kits for FGFR1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FGFR1 
    Cloud-Clone Corp. CLIAs for FGFR1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CD: CD molecules
    ISET: Immunoglobulin superfamily / I-set domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: fibroblast growth factor receptor 1 
    FGF (fibroblast growth factor) receptor family
    FGF (fibroblast growth factor) receptor family

    5/11 InterPro protein domains (see all 11):
     IPR003598 Ig_sub2
     IPR017441 Protein_kinase_ATP_BS
     IPR013098 Ig_I-set
     IPR011009 Kinase-like_dom
     IPR016248 Tyr_kinase_fibroblast_GF_rcpt

    Graphical View of Domain Structure for InterPro Entry P11362

    ProtoNet protein and cluster: P11362

    3 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB008266 Tyrosine protein kinase
    IPB013098 Immunoglobulin I-set


    UniProtKB/Swiss-Prot: FGFR1_HUMAN, P11362
    Domain: The second and third Ig-like domains directly interact with fibroblast growth factors (FGF) and heparan
    sulfate proteoglycans. Isoforms lacking the first Ig-like domain have higher affinity for fibroblast growth
    factors (FGF) and heparan sulfate proteoglycans than isoforms with all three Ig-like domains
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor
    receptor subfamily
    Similarity: Contains 3 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 1 protein kinase domain


    FGFR1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FGFR1_HUMAN, P11362
    Function: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an
    essential role in the regulation of embryonic development, cell proliferation, differentiation and migration.
    Required for normal mesoderm patterning and correct axial organization during embryonic development, normal
    skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system.
    Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activation of several signaling cascades.
    Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol
    1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates
    activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling
    pathway. Promotes phosphorylation of SHC1, STAT1 and PTPN11/SHP2. In the nucleus, enhances RPS6KA1 and CREB1
    activity and contributes to the regulation of transcription. FGFR1 signaling is down-regulated by IL17RD/SEF, and
    by FGFR1 ubiquitination, internalization and degradation
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
    Enzyme regulation: Present in an inactive conformation in the absence of bound ligand. Ligand binding leads to
    dimerization and activation by sequential autophosphorylation on tyrosine residues. Inhibited by ARQ 069; this
    compound maintains the kinase in an inactive conformation and inhibits autophosphorylation. Inhibited by PD173074

         Genatlas biochemistry entry for FGFR1:
    fibroblast growth factor receptor 1 (flg/fms related gene),overexpressed in breast carcinomas?involved in limb
    induction

         Enzyme Numbers (IUBMB): EC 2.7.10.11 2 EC 2.7.102

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004713protein tyrosine kinase activity IDA8622701
    GO:0005007fibroblast growth factor-activated receptor activity TAS2167437
    GO:0005515protein binding IPI10490103
    GO:0005524ATP binding IEA--
         
    FGFR1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for FGFR1:
     Decreased substrate adherent c  Increased cell death HMECs cel  Increased colony dispersion (i 

         15/20 MGI mutant phenotypes (inferred from 33 alleles(MGI details for Fgfr1) (see all 20):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  immune system 
     integument  limbs/digits/tail  mortality/aging  muscle  nervous system 

    FGFR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FGFR1: Fgfr1tm1Cxd Fgfr1tm1Swnr Fgfr1tm1.1Jpa Fgfr1tm5.1Jrt Fgfr1tm1Led Fgfr1tm5Jrt
                                                         Fgfr1tm3Cxd Fgfr1tm2Jrt Fgfr1tm3.1Cxd Fgfr1tm5.2Sor Fgfr1tm1.1Upir Fgfr1tm1Jrt

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FGFR1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FGFR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FGFR1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FGFR1 

    miRNA
    Products:
        
    miRTarBase miRNAs that target FGFR1:
    hsa-mir-424 (MIRT003228)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FGFR1
    8/61 QIAGEN miScript miRNA Assays for microRNAs that regulate FGFR1 (see all 61):
    hsa-miR-562 hsa-miR-330-5p hsa-miR-376b hsa-miR-15a hsa-miR-485-3p hsa-miR-10b* hsa-miR-424 hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidFGFR1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FGFR1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FGFR1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FGFR1
    Sirion Biotech Customized adenovirus for overexpression of FGFR1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for FGFR1 (see all 61)
    OriGene ORF clones in mouse, rat for FGFR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 9): FGFR1 (NM_023110)
    Sino Biological Human cDNA Clone for FGFR1
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                         Customized lentivirus expression plasmids for stable overexpression of FGFR1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGFR1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FGFR1 About   (see all 54)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Glioma
    Melanoma0.43
    Signaling Pathways in Glioblastoma0.36
    Prostate cancer0.39
    2Development FGF-family signaling
    Development FGF-family signaling0.63
    FGF Pathway0.38
    Development FGFR signaling pathway0.50
    3Regulation of Actin Cytoskeleton
    Regulation of Actin Cytoskeleton0.57
    Regulation of actin cytoskeleton0.57
    4Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Actin-Based Motility by Rho Family GTPases0.62
    Apoptotic Pathways in Synovial Fibroblasts0.84
    ERK5 Signaling0.61
    p53 Mediated Apoptosis0.84
    eIF2 Pathway0.60
    5Signaling by FGFR
    Downstream signaling of activated FGFR0.92
    Downstream signal transduction0.90
    Signaling by FGFR0.92
    Signaling by PDGF0.85
    Signaling by FGFR in disease0.91
    Signaling by EGFR0.84
    DAP12 signaling0.91
    Signaling by EGFR in Cancer0.83

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 EMD Millipore Pathways for FGFR1
        G-protein signaling Regulation of CDC42 activity
    Development FGF-family signaling
    Development FGFR signaling pathway
    Cell adhesion Plasmin signaling

    1 R&D Systems Pathway for FGFR1
        Akt Signaling Pathway

    5/61 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FGFR1 (see all 61)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer

    2 Cell Signaling Technology (CST) Pathways for FGFR1
        Angiogenesis
    Tyrosine Kinases / Adaptors

    3 Tocris Bioscience Pathways for FGFR1
        Akt Pathway
    Apoptosis Pathway
    NF-kappaB Pathway

    4 GeneGo (Thomson Reuters) Pathways for FGFR1
        Development FGF-family signaling
    Development FGFR signaling pathway
    Cell adhesion Plasmin signaling
    G-protein signaling Regulation of CDC42 activity

    5/9 BioSystems Pathways for FGFR1 (see all 9)
        Signaling Pathways in Glioblastoma
    Neural Crest Differentiation
    Endochondral Ossification
    Regulation of Actin Cytoskeleton
    Integrated Pancreatic Cancer Pathway


    5/57        Reactome Pathways for FGFR1 (see all 57)
        L1CAM interactions
    Klotho-mediated ligand binding
    FGFR ligand binding and activation
    Signaling by EGFR in Cancer
    Signal transduction by L1

    3 PharmGKB Pathways for FGFR1
        Sorafenib Pharmacodynamics
    VEGF Signaling Pathway
    Vemurafenib Pathway, Pharmacodynamics

    5/8         Kegg Pathways  (Kegg details for FGFR1) (see all 8):
        MAPK signaling pathway
    PI3K-Akt signaling pathway
    Adherens junction
    Regulation of actin cytoskeleton
    Pathways in cancer


    FGFR1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FGFR1

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

    5/103 Interacting proteins for FGFR1 (P113621, 2, 3 ENSP000003802804) via UniProtKB, MINT, STRING, and/or I2D (see all 103)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NEDD4P469342, 3, ENSP000003455304MINT-8290015 MINT-8290063 MINT-8290402 MINT-8289950 MINT-8290027 MINT-8290322 MINT-8290383 MINT-8290051 MINT-8290003 MINT-8290283 MINT-8290560 MINT-8289975 MINT-8290365 MINT-8290238 MINT-8290346 MINT-8289991 MINT-8290605 MINT-8290431 MINT-8290302 MINT-8290170 MINT-8290196 MINT-8292601 MINT-8290629 MINT-8290156 MINT-8290039 MINT-8290263 I2D: score=2 STRING: ENSP00000345530
    PLCG1P191742, 3, ENSP000002440074MINT-8019746 MINT-8033732 MINT-8019714 MINT-8033747 I2D: score=4 STRING: ENSP00000244007
    PIK3R1P279862, 3, ENSP000002743354MINT-8033777 MINT-8033792 MINT-8034303 MINT-8034318 I2D: score=2 STRING: ENSP00000274335
    FRS2Q8WU202, 3, ENSP000002992934MINT-8290677 I2D: score=3 STRING: ENSP00000299293
    CRKP461082, 3, ENSP000003005744MINT-8038639 I2D: score=2 STRING: ENSP00000300574
    About this table

    Gene Ontology (GO): 5/63 biological process terms (GO ID links to tree view) (see all 63):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0000165MAPK cascade TAS10748122
    GO:0001501skeletal system development TAS7874169
    GO:0001525angiogenesis IEA--
    GO:0001657ureteric bud development IEA--

    FGFR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FGFR1 for compounds           About GeneDecksing

    EMD Millipore small molecules for FGFR1:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for FGFR1

    Compounds for FGFR1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PD 161570Selective FGFR inhibitor[192705-80-9]
    PD 173074FGFR1 and -3 inhibitor[219580-11-7]
    FIIN 1 hydrochloride Potent, irreversible FGFR inhibitor [1256152-35-8]
    SU 5402Potent FGFR and VEGFR inhibitor[215543-92-3]

    2 HMDB Compounds for FGFR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    HeparinArteven (see all 17)9005-49-6--
    L-Tyrosine(-)-a-Amino-p-hydroxyhydrocinnamate (see all 28)60-18-4--

    8 DrugBank Compounds for FGFR1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    PaliferminFGF-7 (see all 5)162394-19-6target--10212269 9890894 11714710 10950949 11091737
    Sorafenib-- 284461-73-0targetinhibitor16507829 17016424 15466206
    Ponatinib -- 943319-70-8targetinhibitor23468082 23563700
    (E)-[4-(3,5-difluorophenyl)-3H-pyrrolo[2,3-b]pyridin-3-ylidene](3-methoxyphenyl)methanol-- --target--10592235
    3-(3-methoxybenzyl)-1H-pyrrolo[2,3-b]pyridine-- --target--10592235
    3-[(3-(2-CARBOXYETHYL)-4-METHYLPYRROL-2-YL)METHYLENE]-2-INDOLINONE-- --target--10592235
    SU4984-- --target--10592235
    Regorafenib-- 755037-03-7targetinhibitor--

    10/61 Novoseek inferred chemical compound relationships for FGFR1 gene (see all 61)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    su5402 83.5 14 15255957 (2), 11328744 (2), 11739186 (1), 15298682 (1) (see all 9)
    su6668 76.7 16 16144927 (1), 11978732 (1), 12888313 (1), 15788688 (1) (see all 8)
    tyrosine 75.7 228 9880324 (4), 12601080 (4), 9480847 (4), 8443592 (3) (see all 99)
    heparan sulfate 60.9 19 11431373 (2), 12604602 (2), 10336501 (1), 8227197 (1) (see all 12)
    heparin 53.1 62 9669548 (5), 10512728 (3), 9613830 (3), 7774576 (3) (see all 26)
    vegf 50.5 49 7664263 (2), 9066636 (2), 10872046 (2), 15334938 (2) (see all 20)
    gnrh 43.6 22 8641214 (3), 19489874 (2), 16952059 (1), 17624596 (1) (see all 10)
    phosphotyrosine 43.1 4 16946300 (1), 20432069 (1), 12628006 (1)
    apicidin 42.7 2 17258775 (1), 17203205 (1)
    sodium chlorate 41.4 1 8444842 (1)

    Search CenterWatch for drugs/clinical trials and news about FGFR1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FGFR1 gene (14 alternative transcripts): 
    NM_001174063.1  NM_001174064.1  NM_001174065.1  NM_001174066.1  NM_001174067.1  NM_015850.3  NM_023105.2  NM_023106.2  
    NM_023110.2  NM_023107.2  NM_023108.2  NM_023109.1  NM_023111.2  NM_032191.1  

    Unigene Cluster for FGFR1:

    Fibroblast growth factor receptor 1
    Hs.264887  [show with all ESTs]
    Unigene Representative Sequence: NM_001174064
    18/40 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 40):
    ENST00000397091 ENST00000532791 ENST00000526688 ENST00000397113 ENST00000356207(uc011lbx.1)
    ENST00000335922 ENST00000326324 ENST00000526570(uc011lbr.2) ENST00000397103
    ENST00000531196 ENST00000397108(uc011lbt.1) ENST00000533619 ENST00000527114
    ENST00000487647(uc011lbs.2) ENST00000466021 ENST00000527745 ENST00000524528
    ENST00000475621

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FGFR1
    8/61 QIAGEN miScript miRNA Assays for microRNAs that regulate FGFR1 (see all 61):
    hsa-miR-562 hsa-miR-330-5p hsa-miR-376b hsa-miR-15a hsa-miR-485-3p hsa-miR-10b* hsa-miR-424 hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidFGFR1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FGFR1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FGFR1
    Clone
    Products:
         
    OriGene clones in human, mouse for FGFR1 (see all 61)
    OriGene ORF clones in mouse, rat for FGFR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 9): FGFR1 (NM_023110)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FGFR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FGFR1
    Sirion Biotech Customized lentivirus for stable overexpression of FGFR1 
                         Customized lentivirus expression plasmids for stable overexpression of FGFR1 
    Primer
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    OriGene qPCR primer pairs and template standards for FGFR1
    OriGene qSTAR qPCR primer pairs in human, mouse for FGFR1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FGFR1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FGFR1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FGFR1

    Additional mRNA sequence: 

    AB208919.1 AF173898.1 AK130555.1 AK222718.1 AK223126.1 AK291754.1 AK292470.1 AK309947.1 
    BC015035.1 BC018128.1 BC091494.1 EF525171.1 EU826596.1 EU826597.1 FJ809917.1 M34185.1 
    M34186.1 M34187.1 M34188.1 M34641.1 M37722.1 M60485.1 M63887.1 S76658.1 
    X51803.1 X52833.1 X57119.1 X57120.1 X57121.1 X57122.1 X66945.1 Y00665.1 

    24/30 DOTS entries (see all 30):

    DT.95254748  DT.99933040  DT.86841053  DT.100801698  DT.91776754  DT.455832  DT.100826665  DT.95223994 
    DT.100826662  DT.100826664  DT.120631738  DT.120631931  DT.92037163  DT.100809642  DT.91776769  DT.97821470 
    DT.102843571  DT.120631924  DT.100759644  DT.97859766  DT.120631899  DT.120631908  DT.120631912  DT.120631963 

    24/468 AceView cDNA sequences (see all 468):

    BU623357 M34185 BQ772807 AI972087 BU859149 BU859243 BX649167 BF475465 
    BQ653676 BM875397 BQ549335 CA424071 AI879924 CA848711 BU556834 BU556757 
    CA414685 BM928358 AI652947 BF981311 T29711 BF724672 BG057977 BM912419 

    GeneLoc Exon Structure

    5/29 Alternative Splicing Database (ASD) splice patterns (SP) for FGFR1 (see all 29)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c · 10d ^
    SP1:                                                        -     -     -     -     -     -     -     -     -                                               -   
    SP2:                                                        -     -     -     -     -     -     -     -     -                       -                       -   
    SP3:                                                        -     -     -     -     -     -     -     -     -                       -                       -   
    SP4:                                                                                                                                -                       -   
    SP5:                                                        -     -     -     -     -     -     -     -     -                       -     -     -     -     -   

    ExUns: 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c · 17d · 17e ^ 18a · 18b ^ 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21a · 21b ^ 22 ^
    SP1:  -     -                                                                       -     -     -     -     -           -     -           -                     
    SP2:  -     -                                                                       -     -     -     -     -           -     -           -                     
    SP3:  -     -                                                                       -     -     -     -     -           -     -                                 
    SP4:  -     -                                                                       -     -     -     -     -           -     -                                 
    SP5:  -     -                                                                       -     -     -     -     -           -     -                                 

    ExUns: 23a · 23b · 23c ^ 24a · 24b · 24c ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b · 29c · 29d
    SP1:  -                             -                       -                                 
    SP2:  -                             -                       -                                 
    SP3:  -                             -                       -                                 
    SP4:  -                                                     -                                 
    SP5:  -                             -                       -                                 


    ECgene alternative splicing isoforms for FGFR1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FGFR1 expression in normal human tissues (normalized intensities)      FGFR1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTTTTTAAA
    FGFR1 Expression
    About this image


    FGFR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/36 selected tissues (see all 36) fully expand
     
     Brain (Nervous System)    fully expand to see all 39 entries
             Dopaminergic Progenitor Cells Substantia Nigra pars Compacta
             Thalamus
             Septum   
     
     Bone (Muscoskeletal System)    fully expand to see all 31 entries
             Hypertrophic Chondrocytes Stylopod Growth Plate
             Mandibular Condyle
     
     Cartilage (Muscoskeletal System)    fully expand to see all 21 entries
             Hypertrophic Chondrocytes Stylopod Growth Plate
             fetal cartilage   
     
     Neural Tube (Nervous System)    fully expand to see all 14 entries
             Anterior Entopeduncular Progenitor Cells Anterior Entopeduncular Area
             Telencephalon
     
     Somite (Muscoskeletal System)    fully expand to see all 6 entries
             Tendon Progenitor Cells Lumbar Syndetome
             Somites
             mesenchyme/trunk mesenchyme/paraxial mesenchyme   

    See FGFR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FGFR1

    SOURCE GeneReport for Unigene cluster: Hs.264887

    UniProtKB/Swiss-Prot: FGFR1_HUMAN, P11362
    Tissue specificity: Detected in astrocytoma, neuroblastoma and adrenal cortex cell lines. Some isoforms are
    detected in foreskin fibroblast cell lines, however isoform 17, isoform 18 and isoform 19 are not detected in
    these cells

        SABiosciences Expression via Pathway-Focused PCR Arrays including FGFR1: 
              Osteogenesis in human mouse rat
              Neurotrophins & Receptors in human mouse rat
              Stem Cell Signaling in human mouse rat
              Stem Cells in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FGFR1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGFR1

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FGFR1 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fgfr11 , 5 fibroblast growth factor receptor 11, 5 89.84(n)1
    98.54(a)1
      8 (14.12 cM)5
    141821  NM_010206.21  NP_034336.21 
     255136545 
    chicken
    (Gallus gallus)
    Aves FGFR11 fibroblast growth factor receptor 1 83.44(n)
    92.04(a)
      396516  NM_205510.1  NP_990841.1 
    lizard
    (Anolis carolinensis)
    Reptilia FGFR16
    Fibroblast growth factor receptor
    83(a)
    1 ↔ 1
    GL343418.1(135918-194663)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.27512 Xenopus laevis fibroblast growth factor receptor mRNA, more 78.95(n)    M55163.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fgfr12 fibroblast growth factor receptor 1 78.21(n)   30705  AF389400.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta tor3 eggshell pattern formation
    transmembrane receptor more
    52(a)
    (best of 3)
      43E12   --
    worm
    (Caenorhabditis elegans)
    Secernentea kin-93 protein-tyosine kinase 38(a)
    (best of 18)
      X(8467937-8472462)   --


    ENSEMBL Gene Tree for FGFR1 (if available)
    TreeFam Gene Tree for FGFR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FGFR1 gene
    FLT42  FGFR42  PDGFRB2  CSF1R2  KIT2  FGFR32  PDGFRA2  RET2  
    KDR2  FGFR22  FLT32  FLT12  
    18/138 SIMAP similar genes for FGFR1 using alignment to 17 protein entries:     FGFR1_HUMAN (see all proteins) (see all similar genes):
    K-SAM    TK25    BEK    FGFR2    FGFR3    FGFR1/PLAG1 fusion
    FGFR-4    FGFR4    CCDC6-RETa    CCDC6-RETc    FLT1    ERBB3
    urf-ret    FLT4    RET    ABL1    R11    EGFR

    FGFR1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1377 SNPs in FGFR1 are shown (see all 1377)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0178904
    Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)4--see VAR_0178902 W R mis40--------
    VAR_0310014
    Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)4--see VAR_0310012 G R mis40--------
    VAR_0309794
    Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)4--see VAR_0309792 L P mis40--------
    VAR_0309684
    Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)4--see VAR_0309682 G S mis40--------
    VAR_0309894
    Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)4--see VAR_0309892 Y C mis40--------
    VAR_0178914
    Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)4--see VAR_0178912 M R mis40--------
    VAR_0309954
    Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)4--see VAR_0309952 A T mis40--------
    VAR_0309784
    Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)4--see VAR_0309782 G S mis40--------
    VAR_0310004
    Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)4--see VAR_0310002 S F mis40--------
    VAR_0310074
    Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)4--see VAR_0310072 N K mis40--------

    HapMap Linkage Disequilibrium report for FGFR1 (38268656 - 38326352 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FGFR1: --

    Human Gene Mutation Database (HGMD): FGFR1
    2 SABiosciences Cancer Mutation PCR Assays for FGFR1:
    Cosmic IdAA Change
    12834p.P252T
    601p.S125L
    2 SABiosciences Cancer Mutation PCR Arrays containing FGFR1:
    FGFR Pathway
    Cancer Comprehensive Panel 384HT
    2 SABiosciences qBiomarker Copy Number PCR Arrays containing FGFR1:
    Oncogenes & Tumor Suppressor Genes 384HC
    Breast Cancer
    SeqTarget long-range PCR primers for resequencing FGFR1
    DNA2.0 Custom Variant and Variant Library Synthesis for FGFR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 136350   
    OMIM disorders: 101600  123150  147950  146110  166250  190440  
    UniProtKB/Swiss-Prot: FGFR1_HUMAN, P11362
  • Pfeiffer syndrome (PS) [MIM:101600]: A syndrome characterized by the association of craniosynostosis,
    broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known:
    mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2);
    craniosynostosis, early demise, sporadic (type 3). Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]: A disorder characterized by
    absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating
    gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it
    is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss.
    Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is
    due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of
    gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic
    hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been
    termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Note=The disease is caused by mutations
    affecting distinct genetic loci, including the gene represented in this entry
  • Osteoglophonic dysplasia (OGD) [MIM:166250]: Characterized by craniosynostosis, prominent supraorbital
    ridge, and depressed nasal bridge, as well as by rhizomelic dwarfism and nonossifying bone lesions. Inheritance
    is autosomal dominant. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Trigonocephaly 1 (TRIGNO1) [MIM:190440]: A keel-shaped deformation of the forehead, caused by premature
    fusion of the metopic sutures. It results in a triangular shape of the head. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Note=A chromosomal aberration involving FGFR1 may be a cause of stem cell leukemia lymphoma syndrome
    (SCLL). Translocation t(8;13)(p11;q12) with ZMYM2. SCLL usually presents as lymphoblastic lymphoma in association
    with a myeloproliferative disorder, often accompanied by pronounced peripheral eosinophilia and/or prominent
    eosinophilic infiltrates in the affected bone marrow
  • Note=A chromosomal aberration involving FGFR1 may be a cause of stem cell myeloproliferative disorder
    (MPD). Translocation t(6;8)(q27;p11) with FGFR1OP. Insertion ins(12;8)(p11;p11p22) with FGFR1OP2. MPD is
    characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it
    progresses to acute myeloid leukemia. The fusion proteins FGFR1OP2-FGFR1, FGFR1OP-FGFR1 or FGFR1-FGFR1OP may
    exhibit constitutive kinase activity and be responsible for the transforming activity
  • Note=A chromosomal aberration involving FGFR1 may be a cause of stem cell myeloproliferative disorder
    (MPD). Translocation t(8;9)(p12;q33) with CEP110. MPD is characterized by myeloid hyperplasia, eosinophilia and
    T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion protein
    CEP110-FGFR1 is found in the cytoplasm, exhibits constitutive kinase activity and may be responsible for the
    transforming activity

  • 20/145 diseases for FGFR1 (see all 145):    About MalaCards
    osteoglophonic dysplasia    myeloid neoplasm associated with fgfr1 rearrangement    fgfr1-related craniosynostosis    fgfr-related craniosynostosis syndromes
    kallmann syndrome 2    trigonocephaly, nonsyndromic    kallmann syndrome    pfeiffer syndrome
    kallmann syndrome 1    pfeiffer syndrome type 1    stem cell leukemia    jackson-weiss syndrome
    antley-bixler syndrome    lobular neoplasia    eosinophilic disorders    plagiocephaly
    muenke syndrome    crouzon syndrome    hypochondroplasia    craniosynostosis - hydrocephalus - chiari i malformation - radioulnar synostosis

    6 diseases from the University of Copenhagen DISEASES database for FGFR1:
    Craniosynostosis     Acrocephalosyndactylia     Klinefelter's syndrome     Hypogonadism
    Cancer     Eosinophilia

    FGFR1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/90 Novoseek inferred disease relationships for FGFR1 gene (see all 90)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kallmann syndrome 90.6 45 16606836 (2), 17154279 (2), 20139426 (2), 20117945 (2) (see all 23)
    pfeiffer syndrome 86.1 19 10942429 (3), 7874169 (2), 16957473 (2), 11596961 (1) (see all 12)
    craniosynostosis 81.3 40 9890607 (2), 14577033 (2), 14629875 (2), 11277076 (2) (see all 31)
    jackson-weiss syndrome 74.2 1 11571861 (1)
    myeloproliferative disorders 71.2 30 9576949 (2), 10688839 (2), 9499416 (1), 11122115 (1) (see all 21)
    leukemia eosinophilic 70.4 2 19761433 (1), 20053713 (1)
    apert syndrome 69.4 4 11596961 (1), 8841188 (1), 11571861 (1), 12884424 (1)
    crouzon syndrome 67.8 1 11571861 (1)
    muenke syndrome 67.4 2 11571861 (1), 14987407 (1)
    saethre-chotzen syndrome 59.6 1 11571861 (1)

    GeneTests: FGFR1
    GeneReviews: FGFR1
    Genetic Association Database (GAD): FGFR1
    Human Genome Epidemiology (HuGE) Navigator: FGFR1 (34 documents)
    Tumor Gene Database (TGDB): FGFR1

    Export disorders for FGFR1 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)
    About This Section

    PubMed articles for FGFR1 gene, integrated from 9 sources (see all 969):
    (articles sorted by number of sources associating them with FGFR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The complete amino acid sequence of the shorter form of human basic fibroblast growth factor receptor deduced from its cDNA. (PubMed id 2162671)1, 2, 3 Itoh N.... Seo M.K. (1990)
    2. Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. (PubMed id 15001591)1, 2, 9 Sato N.... Ogata T. (2004)
    3. Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. (PubMed id 16882753)1, 2, 9 Trarbach E.B.... Latronico A.C. (2006)
    4. Impaired fibroblast growth factor receptor 1 signalin g as a cause of normosmic idiopathic hypogonadotropic hypogonadism. (PubMed id 19820032)1, 2, 9 Raivio T....Pitteloud N. (2009)
    5. Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. (PubMed id 16606836)1, 2, 9 Pitteloud N.... Crowley W.F. Jr. (2006)
    6. Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. (PubMed id 16764984)1, 2, 9 Pitteloud N.... Crowley W.F. Jr. (2006)
    7. Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1). (PubMed id 16757108)1, 2, 9 Zenaty D....de Roux N. (2006)
    8. Identification of six novel autophosphorylation sites on fibroblast growth factor receptor 1 and elucidation of their importance in receptor activation and signal transduction. (PubMed id 8622701)1, 2, 9 Mohammadi M....Schlessinger J. (1996)
    9. The Shb adaptor protein binds to tyrosine 766 in the FGFR-1 and regulates the Ras/MEK/MAPK pathway via FRS2 phosphorylation in endothelial cells. (PubMed id 12181353)1, 2, 9 Cross M.J....Claesson-Welsh L. (2002)
    10. Correlation of the SNPs of FGFR1, FGF10, FGF18 with n onsyndromic cleft lip with or without palate in Chinese population. (PubMed id 19727229)1, 4, 9 Wan W.D....Lu Z.H. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2260 HGNC: 3688 AceView: FGFR1 Ensembl:ENSG00000077782 euGenes: HUgn2260
    ECgene: FGFR1 Kegg: 2260 H-InvDB: FGFR1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FGFR1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FGFR1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FGFR1
    NIEHS-SNPshttp://egp.gs.washington.edu/data/fgfr1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FGFR1 gene:
    Search GeneIP for patents involving FGFR1

    Licensable Technologies for FGFR1 gene:
    Weizmann Institute:Porphyrin and Corrole -like analogs as potent inhibitors of Growth Factor Receptor Binding and Activation
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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