Fibroblast Growth Factor Receptor 1 (FGFR1)

CD331; FLT2, KAL2; CEK; FLG; BFGFR, N-SAM,Basic Fibroblast Growth Factor Receptor 1; Fms-Related Tyrosine Kinase-2; Pfeiffer Syndrome

SPN	V049
HGNC	3688
MGI	95522
PubMed	23817572
RGD	620713
UniProt	P11362
Wiki	FGFR1

Fibroblast growth factor receptor 1 (FGFR1) is a receptor tyrosine kinase whose ligands are specific members of the fibroblast growth factor family. FGFR1 has been shown to be associated with Pfeiffer syndrome.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.

Reference

"The complete amino acid sequence of the shorter form of human basic fibroblast growth factor receptor deduced from its cDNA."
Biochem. Biophys. Res. Commun. 169:680-685(1990) [PubMed] [Europe PMC] [Abstract]

"Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors."
EMBO J. 9:2685-2692(1990) [PubMed] [Europe PMC] [Abstract]

"Diverse forms of a receptor for acidic and basic fibroblast growth factors."
Mol. Cell. Biol. 10:4728-4736(1990) [PubMed] [Europe PMC] [Abstract]

"Complete sequence of a human receptor for acidic and basic fibroblast growth factors."
Nucleic Acids Res. 18:1906-1906(1990) [PubMed] [Europe PMC] [Abstract]

"cDNA cloning and expression of a human FGF receptor which binds acidic and basic FGF."
Growth Factors 4:197-208(1991) [PubMed] [Europe PMC] [Abstract]

"Molecular cloning of a human basic fibroblast growth factor receptor cDNA and expression of a biologically active extracellular domain in a baculovirus system."
Growth Factors 5:115-127(1991) [PubMed] [Europe PMC] [Abstract]

"Alternative splicing generates at least five different isoforms of the human basic-FGF receptor."
Oncogene 6:1195-1202(1991) [PubMed] [Europe PMC] [Abstract]

"Fibroblast growth factor receptors from liver vary in three structural domains."
Science 251:665-668(1991) [PubMed] [Europe PMC] [Abstract]

"K-sam-related gene, N-sam, encodes fibroblast growth factor receptor and is expressed in T-lymphocytic tumors."
Cancer Res. 52:3367-3371(1992) [PubMed] [Europe PMC] [Abstract]

"A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1."
Hum. Reprod. 25:1076-1080(2010) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"DNA sequence and analysis of human chromosome 8."
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Multivalent ligand-receptor binding interactions in the fibroblast growth factor system produce a cooperative growth factor and heparin mechanism for receptor dimerization."
Biochemistry 33:10229-10248(1994) [PubMed] [Europe PMC] [Abstract]

"Distinct role of 2-O-, N-, and 6-O-sulfate groups of heparin in the formation of the ternary complex with basic fibroblast growth factor and soluble FGF receptor-1."
Biochem. Biophys. Res. Commun. 203:450-458(1994) [PubMed] [Europe PMC] [Abstract]

"A novel protein tyrosine kinase gene whose expression is modulated during endothelial cell differentiation."
Oncogene 3:9-15(1988)

"The human fibroblast growth factor receptor genes: a common structural arrangement underlies the mechanisms for generating receptor forms that differ in their third immunoglobulin domain."
Mol. Cell. Biol. 11:4627-4634(1991) [PubMed] [Europe PMC] [Abstract]

"A novel c-fgr exon utilized in Epstein-Barr virus-infected B lymphocytes but not in normal monocytes."
Mol. Cell. Biol. 11:1500-1507(1991) [PubMed] [Europe PMC] [Abstract]

"A tyrosine-phosphorylated carboxy-terminal peptide of the fibroblast growth factor receptor (Flg) is a binding site for the SH2 domain of phospholipase C-gamma 1."
Mol. Cell. Biol. 11:5068-5078(1991) [PubMed] [Europe PMC] [Abstract]

"Point mutation of an FGF receptor abolishes phosphatidylinositol turnover and Ca2+ flux but not mitogenesis."
Nature 358:678-681(1992) [PubMed] [Europe PMC] [Abstract]

"Point mutation in FGF receptor eliminates phosphatidylinositol hydrolysis without affecting mitogenesis."
Nature 358:681-684(1992) [PubMed] [Europe PMC] [Abstract]

"Internalization of fibroblast growth factor receptor is inhibited by a point mutation at tyrosine 766."
J. Biol. Chem. 269:17056-17061(1994) [PubMed] [Europe PMC] [Abstract]

"Identification of six novel autophosphorylation sites on fibroblast growth factor receptor 1 and elucidation of their importance in receptor activation and signal transduction."
Mol. Cell. Biol. 16:977-989(1996) [PubMed] [Europe PMC] [Abstract]

"Receptor specificity of the fibroblast growth factor family."
J. Biol. Chem. 271:15292-15297(1996) [PubMed] [Europe PMC] [Abstract]

"Structure of a heparin-linked biologically active dimer of fibroblast growth factor."
Nature 393:812-817(1998) [PubMed] [Europe PMC] [Abstract]

"The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1."
Blood 93:1381-1389(1999) [PubMed] [Europe PMC] [Abstract]

"Grb10, a positive, stimulatory signaling adapter in platelet-derived growth factor BB-, insulin-like growth factor I-, and insulin-mediated mitogenesis."
Mol. Cell. Biol. 19:6217-6228(1999) [PubMed] [Europe PMC] [Abstract]

"FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33)."
Blood 95:1788-1796(2000) [PubMed] [Europe PMC] [Abstract]

"Stimulation of phosphatidylinositol 3-kinase by fibroblast growth factor receptors is mediated by coordinated recruitment of multiple docking proteins."
Proc. Natl. Acad. Sci. U.S.A. 98:6074-6079(2001) [PubMed] [Europe PMC] [Abstract]

"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."
Mol. Biol. Cell 13:2881-2893(2002) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome."
Genes Chromosomes Cancer 40:78-83(2004) [PubMed] [Europe PMC] [Abstract]

"90-kDa ribosomal S6 kinase is a direct target for the nuclear fibroblast growth factor receptor 1 (FGFR1): role in FGFR1 signaling."
J. Biol. Chem. 279:29325-29335(2004) [PubMed] [Europe PMC] [Abstract]

"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]

"Phosphotyrosine profiling identifies the KG-1 cell line as a model for the study of FGFR1 fusions in acute myeloid leukemia."
Blood 108:4202-4204(2006) [PubMed] [Europe PMC] [Abstract]

"Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family."
J. Biol. Chem. 281:15694-15700(2006) [PubMed] [Europe PMC] [Abstract]

"Factors controlling fibroblast growth factor receptor-1's cytoplasmic trafficking and its regulation as revealed by FRAP analysis."
Mol. Biol. Cell 17:2223-2235(2006) [PubMed] [Europe PMC] [Abstract]

"Autophosphorylation of FGFR1 kinase is mediated by a sequential and precisely ordered reaction."
Mol. Cell 21:711-717(2006) [PubMed] [Europe PMC] [Abstract]

"14-3-3 integrates pro-survival signals mediated by the AKT and MAPK pathways in ZNF198-FGFR1 transformed hematopoietic cells."
Blood 110:360-369(2007) [PubMed] [Europe PMC] [Abstract]

"Tissue-specific expression of betaKlotho and fibroblast growth factor (FGF) receptor isoforms determines metabolic activity of FGF19 and FGF21."
J. Biol. Chem. 282:26687-26695(2007) [PubMed] [Europe PMC] [Abstract]

"Fibroblast growth factor receptor-induced phosphorylation of STAT1 at the Golgi apparatus without translocation to the nucleus."
J. Cell. Physiol. 212:148-156(2007) [PubMed] [Europe PMC] [Abstract]

"Ubiquitination of fibroblast growth factor receptor 1 is required for its intracellular sorting but not for its endocytosis."
Mol. Biol. Cell 19:3390-3403(2008) [PubMed] [Europe PMC] [Abstract]

"Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1."
J. Biol. Chem. 284:29905-29920(2009) [PubMed] [Europe PMC] [Abstract]

"Fibroblast growth factor receptor-1 (FGFR1) nuclear dynamics reveal a novel mechanism in transcription control."
Mol. Biol. Cell 20:2401-2412(2009) [PubMed] [Europe PMC] [Abstract]

"The precise sequence of FGF receptor autophosphorylation is kinetically driven and is disrupted by oncogenic mutations."
Sci. Signal. 2:RA6-RA6(2009) [PubMed] [Europe PMC] [Abstract]

"Isolated C-terminal tail of FGF23 alleviates hypophosphatemia by inhibiting FGF23-FGFR-Klotho complex formation."
Proc. Natl. Acad. Sci. U.S.A. 107:407-412(2010) [PubMed] [Europe PMC] [Abstract]

"Nedd4-1 binds and ubiquitylates activated FGFR1 to control its endocytosis and function."
EMBO J. 30:3259-3273(2011) [PubMed] [Europe PMC] [Abstract]

"The structure and function of vertebrate fibroblast growth factor receptor 1."
Int. J. Dev. Biol. 46:393-400(2002) [PubMed] [Europe PMC] [Abstract]

"Cellular signaling by fibroblast growth factor receptors."
Cytokine Growth Factor Rev. 16:139-149(2005) [PubMed] [Europe PMC] [Abstract]

"Fibroblast growth factor signalling: from development to cancer."
Nat. Rev. Cancer 10:116-129(2010) [PubMed] [Europe PMC] [Abstract]

"Novel insights in FGFR1 regulation: lessons from Kallmann syndrome."
Trends Endocrinol. Metab. 21:385-393(2010) [PubMed] [Europe PMC] [Abstract]

"Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism."
Cell 86:577-587(1996) [PubMed] [Europe PMC] [Abstract]

"Structures of the tyrosine kinase domain of fibroblast growth factor receptor in complex with inhibitors."
Science 276:955-960(1997) [PubMed] [Europe PMC] [Abstract]

"Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity."
Cell 101:413-424(2000) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of a ternary FGF-FGFR-heparin complex reveals a dual role for heparin in FGFR binding and dimerization."
Mol. Cell 6:743-750(2000) [PubMed] [Europe PMC] [Abstract]

"Solution structure of the first Ig-like domain of human fibroblast growth factor receptor 1."
Submitted (NOV-2005) to the PDB data bank

"The selectivity of receptor tyrosine kinase signaling is controlled by a secondary SH2 domain binding site."
Cell 138:514-524(2009) [PubMed] [Europe PMC] [Abstract]

"Asymmetric receptor contact is required for tyrosine autophosphorylation of fibroblast growth factor receptor in living cells."
Proc. Natl. Acad. Sci. U.S.A. 107:2866-2871(2010) [PubMed] [Europe PMC] [Abstract]

"A novel mode of protein kinase inhibition exploiting hydrophobic motifs of autoinhibited kinases: discovery of ATP-independent inhibitors of fibroblast growth factor receptor."
J. Biol. Chem. 286:20677-20687(2011) [PubMed] [Europe PMC] [Abstract]

"A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome."
Nat. Genet. 8:269-274(1994) [PubMed] [Europe PMC] [Abstract]

"An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly."
Cytogenet. Cell Genet. 91:138-140(2000) [PubMed] [Europe PMC] [Abstract]

"Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome."
Nat. Genet. 33:463-465(2003) [PubMed] [Europe PMC] [Abstract]

"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."
J. Clin. Endocrinol. Metab. 89:1079-1088(2004) [PubMed] [Europe PMC] [Abstract]

"Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation."
Am. J. Hum. Genet. 76:361-367(2005) [PubMed] [Europe PMC] [Abstract]

"Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)."
Hum. Mutat. 25:98-99(2005) [PubMed] [Europe PMC] [Abstract]

"Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report."
Hum. Reprod. 20:2173-2178(2005) [PubMed] [Europe PMC] [Abstract]

"Extended mutational analyses of FGFR1 in osteoglophonic dysplasia."
Am. J. Med. Genet. A 140:537-539(2006) [PubMed] [Europe PMC] [Abstract]

"Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia."
J. Clin. Endocrinol. Metab. 91:4006-4012(2006) [PubMed] [Europe PMC] [Abstract]

"Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes."
Mol. Cell. Endocrinol. 254:60-69(2006) [PubMed] [Europe PMC] [Abstract]

"Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1)."
Mol. Cell. Endocrinol. 254:78-83(2006) [PubMed] [Europe PMC] [Abstract]

"Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism."
Proc. Natl. Acad. Sci. U.S.A. 103:6281-6286(2006) [PubMed] [Europe PMC] [Abstract]

"Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis."
Hum. Mutat. 28:97-98(2007) [PubMed] [Europe PMC] [Abstract]

"Patterns of somatic mutation in human cancer genomes."
Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]

"Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism."
J. Clin. Endocrinol. Metab. 94:4380-4390(2009) [PubMed] [Europe PMC] [Abstract]

"Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism."
Proc. Natl. Acad. Sci. U.S.A. 108:11524-11529(2011) [PubMed] [Europe PMC] [Abstract]

"SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome."
PLoS Genet. 8:E1002896-E1002896(2012) [PubMed] [Europe PMC] [Abstract]

"Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism."
Am. J. Hum. Genet. 92:725-743(2013) [PubMed] [Europe PMC] [Abstract]

"FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly."
J. Med. Genet. 50:585-592(2013) [PubMed] [Europe PMC] [Abstract]

"Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism."
Am. J. Med. Genet. A 164:2356-2359(2014) [PubMed] [Europe PMC] [Abstract]

"The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients."
J. Clin. Endocrinol. Metab. 99:E2138-2143(2014) [PubMed] [Europe PMC] [Abstract]