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Gene Ontology Classifications
Symbol
Name
ID
Fgfr1
fibroblast growth factor receptor 1
MGI:95522

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Fgfr1. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Chernyshova Y et al. (2011) The Neural Cell Adhesion Molecule Promotes FGFR-Dependent Phosphorylation and Membrane Targeting of the Exocyst Complex to Induce Exocytosis in Growth Cones. J Neurosci, 31:3522-35. (PubMed:21389209)
  2. Christensen C et al. (2006) The neural cell adhesion molecule binds to fibroblast growth factor receptor 2. FEBS Lett, 580:3386-90. (PubMed:16709412)
  3. Hoffman MP et al. (2002) Gene expression profiles of mouse submandibular gland development: FGFR1 regulates branching morphogenesis in vitro through BMP- and FGF-dependent mechanisms. Development, 129:5767-78. (PubMed:12421715)
  4. Hung IH et al. (2007) FGF9 regulates early hypertrophic chondrocyte differentiation and skeletal vascularization in the developing stylopod. Dev Biol, 307:300-13. (PubMed:17544391)
  5. Lavine KJ et al. (2005) Endocardial and epicardial derived FGF signals regulate myocardial proliferation and differentiation in vivo. Dev Cell, 8:85-95. (PubMed:15621532)
  6. Lavine KJ et al. (2006) Fibroblast growth factor signals regulate a wave of Hedgehog activation that is essential for coronary vascular development. Genes Dev, 20:1651-66. (PubMed:16778080)
  7. Lee JM et al. (2008) Wnt11/Fgfr1b cross-talk modulates the fate of cells in palate development. Dev Biol, 314:341-50. (PubMed:18191119)
  8. Li C et al. (2005) FGFR1 function at the earliest stages of mouse limb development plays an indispensable role in subsequent autopod morphogenesis. Development, 132:4755-64. (PubMed:16207751)
  9. Mansukhani A et al. (1990) A murine fibroblast growth factor (FGF) receptor expressed in CHO cells is activated by basic FGF and Kaposi FGF. Proc Natl Acad Sci U S A, 87:4378-82. (PubMed:2161540)
  10. Miura S et al. (2006) BMP signaling in the epiblast is required for proper recruitment of the prospective paraxial mesoderm and development of the somites. Development, 133:3767-75. (PubMed:16943278)
  11. Pau H et al. (2005) Hush puppy: a new mouse mutant with pinna, ossicle, and inner ear defects. Laryngoscope, 115:116-24. (PubMed:15630379)
  12. Pirvola U et al. (2002) FGFR1 is required for the development of the auditory sensory epithelium. Neuron, 35:671-80. (PubMed:12194867)
  13. Poladia DP et al. (2006) Role of fibroblast growth factor receptors 1 and 2 in the metanephric mesenchyme. Dev Biol, 291:325-39. (PubMed:16442091)
  14. Saarimaki-Vire J et al. (2007) Fibroblast growth factor receptors cooperate to regulate neural progenitor properties in the developing midbrain and hindbrain. J Neurosci, 27:8581-92. (PubMed:17687036)
  15. Serls AE et al. (2005) Different thresholds of fibroblast growth factors pattern the ventral foregut into liver and lung. Development, 132:35-47. (PubMed:15576401)
  16. Stevens HE et al. (2010) Fgfr2 is required for the development of the medial prefrontal cortex and its connections with limbic circuits. J Neurosci, 30:5590-602. (PubMed:20410112)
  17. Suzuki M et al. (2008) betaKlotho is required for fibroblast growth factor (FGF) 21 signaling through FGF receptor (FGFR) 1c and FGFR3c. Mol Endocrinol, 22:1006-14. (PubMed:18187602)
  18. Trokovic N et al. (2005) Fibroblast growth factor signalling and regional specification of the pharyngeal ectoderm. Int J Dev Biol, 49:797-805. (PubMed:16172976)
  19. Trokovic R et al. (2003) FGFR1 is independently required in both developing mid- and hindbrain for sustained response to isthmic signals. EMBO J, 22:1811-23. (PubMed:12682014)
  20. Tucker ES et al. (2008) Molecular specification and patterning of progenitor cells in the lateral and medial ganglionic eminences. J Neurosci, 28:9504-18. (PubMed:18799682)
  21. Urakawa I et al. (2006) Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature, 444:770-4. (PubMed:17086194)
  22. White AC et al. (2006) FGF9 and SHH signaling coordinate lung growth and development through regulation of distinct mesenchymal domains. Development, 133:1507-17. (PubMed:16540513)
  23. Yamada H et al. (1999) AT2 receptor and vascular smooth muscle cell differentiation in vascular development. Hypertension, 33:1414-9. (PubMed:10373225)
  24. Yamamoto S et al. (2008) Platelet-derived growth factor receptor regulates salivary gland morphogenesis via fibroblast growth factor expression. J Biol Chem, 283:23139-49. (PubMed:18559345)
  25. Yin Y et al. (2008) An FGF-WNT gene regulatory network controls lung mesenchyme development. Dev Biol, 319:426-36. (PubMed:18533146)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/16/2014
MGI 5.19
The Jackson Laboratory