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Description for Protein FGFR1

fibroblast growth factor receptor 1
42 total interacting proteins; 19 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • IGC2: Immunoglobulin C-2 Type
  • TM: Transmembrane domain
  • Tyr_Kinase: tyrosine kinase domain

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    2.7.10.1
    KEGG - Orthology:
    K04362
    KEGG - Pathway(s):
    hsa04010; hsa04520; hsa04810; hsa05200; hsa05215; hsa05218
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    FMS-like tyrosine kinase 2; Fibroblast growth factor receptor 1; FLT2; Hydroxyaryl-protein kinase; BFGFR; C-FGR; CEK; FLG; H2; KAL2; N-SAM; N-sam tyrosine kinase; Basic fibroblast growth factor receptor 1; Fms-related tyrosine kinase-2; Heparin-binding growth factor receptor; Fibroblast growth factor receptor 1 isoform 6; Fibroblast growth factor receptor 1 isoform 8; Fibroblast growth factor receptor 1 isoform 9; Protein-tyrosine kinase; Tyrosylprotein kinase; Fibroblast growth factor receptor 1 isoform 2; Fibroblast growth factor receptor 1 isoform 3; Fibroblast growth factor receptor 1 isoform 4; Fibroblast growth factor receptor 1 isoform 5
    Approved Symbol:
    FGFR1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 76
    Human (de-) phosphorylation sites: 76; No platelet phosphorylation sites

    Phosphorylation Targets:
    Total phosphorylation targets: 2
    Human phosphorylation targets: 2; Predicted platelet targets: 0
    Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • (E)-[4-(3,5-difluorophenyl)-3H-pyrrolo[2,3-b]pyridin-3-ylidene](3-methoxyphenyl)methanol(db);
  • 3-(3-methoxybenzyl)-1H-pyrrolo[2,3-b]pyridine(db);
  • 3-[(3-(2-CARBOXYETHYL)-4-METHYLPYRROL-2-YL)METHYLENE]-2-INDOLINONE(db);
  • Palifermin(db);
  • SU4984(db)


    Associated Genetic Diseases:

  • Hypogonadotropic hypogonadism(Pd);
  • Kallmann syndrome 2(Pd);
  • Kallmann syndrome 2 with bimanual synkinesia(Pd);
  • Kallmann syndrome 2 with cleft lip or palate(Pd);
  • Kallmann syndrome 2 with cleft palate(Pd);
  • Kallmann syndrome 2 with multiple dental agenesis(Pd);
  • Osteoglophonic dysplasia(Pd);
  • Pfeiffer syndrome(Pd);
  • Trigonocephaly(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 9 : 1
  • Isoform 8 : 1
  • Isoform 7 : 1
  • Isoform 6 : 0
  • Isoform 5 : 0
  • Isoform 4 : 1
  • Isoform 3 : 1
  • Isoform 2 : 1
  • Isoform 1 : 1
  • Additional Identifiers:

    HPRD: 00634 Entrez Gene ID: 2260 OMIM ID: 136350 Swissprot Accession: P11362Q53G05