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 ...[+]

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 normal skeletogenesis. 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 ubiquitination, internalization and degradation. [-]

             septooptic dysplasia
             hypogonadotropic hypogonadism
             hypogonadotropic hypogonadism 2 with or without anosmia
             Pfeiffer syndrome
             Kallmann syndrome
             pilomyxoid astrocytoma
             Jackson-Weiss syndrome
             osteoglophonic dysplasia

          PFEIFFER SYNDROME
          HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2
          ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL
          HARTSFIELD SYNDROME; HRTFDS
          OSTEOGLOPHONIC DYSPLASIA; OGD
          TRIGONOCEPHALY 1; TRIGNO1

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD