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]

  • Nucleotide binding
  • Protein kinase activity
  • Enables protein serine/threonine/tyrosine kinase activity
  • enables protein tyrosine kinase activity
  • enables transmembrane receptor protein tyrosine kinase activity
  • Located in extracellular region
  • Located in nucleus
  • Cytoplasm
  • Located in cytosol
  • Located in plasma membrane
  • Involved in MAPK cascade
  • Involved in skeletal system development
  • Involved in neuron migration
  • Involved in epithelial to mesenchymal transition
  • Involved in protein phosphorylation
  • Abnormality of body height
  • Autosomal dominant inheritance
  • Abnormal morphology of female internal genitalia
  • Hypoplasia of the uterus
  • Inguinal hernia
  • Functional abnormality of male internal genitalia
  • Male hypogonadism
  • Azoospermia
  • Cryptorchidism
  • Abnormality of male external genitalia
  • Abnormal testis morphology
  • Abnormal penis morphology
  • Long penis
  • Chordee
  • Hypogonadotropic hypogonadism
  • Hypospadias
  • Hypoplastic male external genitalia
  • Micropenis
  • Ambiguous genitalia
  • Abnormality of the kidney
  • Abnormality of the genital system
  • Abnormality of the urinary system
  • Abnormality of reproductive system physiology
  • Ectopic kidney
  • Renal agenesis
  • Abnormality of the genitourinary system
  • Pelvic kidney
  • Hydronephrosis
  • Abnormality of the uterus
  • Decreased fertility

FGFR1 Localizations – Subcellular Localization Database

Gene Location