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 Wednesday, August 14, 2013.)

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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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Fgfr1
  • participates in the following biological processes:
    • fibroblast growth factor receptor signaling pathway ^[8]
    • positive regulation of cell proliferation ^[8]
    • protein phosphorylation ^[8]
    • regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling ^[23]
  • performs the following molecular functions:
    • fibroblast growth factor-activated receptor activity ^[8]
• The gene product of Fgfr1 has been shown to bind to the gene products of Kl. ^[20] Researchers have inferred, based on physical interactions, that the gene product of Fgfr1
  • performs the following molecular functions:
    • fibroblast growth factor binding ^[20]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Fgfr1
  • participates in the following biological processes:
    • auditory receptor cell development ^[10]
    • blood vessel morphogenesis ^[22]
    • brain development ^[18]
    • branching involved in salivary gland morphogenesis ^{[2, 23]}
    • cell maturation ^[22]
    • embryonic limb morphogenesis ^[7]
    • fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development ^[15]
    • generation of neurons ^[17]
    • inner ear morphogenesis ^[11]
    • lung development ^[14]
    • midbrain development ^[13]
    • middle ear morphogenesis ^[10]
    • negative regulation of gene expression ^[6]
    • negative regulation of transcription from RNA polymerase II promoter ^[15]
    • orbitofrontal cortex development ^[15]
    • organ induction ^[14]
    • outer ear morphogenesis ^[10]
    • positive regulation of cell cycle ^[15]
    • positive regulation of cell proliferation ^[15]
    • positive regulation of mesenchymal cell proliferation ^[6]
    • regulation of cell proliferation ^[11]
    • regulation of extrinsic apoptotic signaling pathway in absence of ligand ^{[6, 7]}
    • regulation of gene expression ^[19]
    • salivary gland morphogenesis ^[2]
    • sensory perception of sound ^[10]
    • ventricular zone neuroblast division ^[15]
• Researchers have inferred, based on genetic interactions, that the gene product of Fgfr1
  • participates in the following biological processes:
    • angiogenesis based on interactions with Fgfr2 ^[5]
    • chondrocyte differentiation based on interactions with Fgf9 ^[3]
    • fibroblast growth factor receptor signaling pathway based on interactions with Fgf2, Fgf21, Fgf4, Fgf9, Fgfr2, Klb ^{[4, 5, 8, 16]}
    • in utero embryonic development based on interactions with Fgfr2 ^[13]
    • lung development based on interactions with Fgfr2 ^[21]
    • lung-associated mesenchyme development based on interactions with Fgfr2 ^[24]
    • mesenchymal cell differentiation based on interactions with Fgfr2 ^[12]
    • midbrain development based on interactions with Fgfr2 ^[13]
    • paraxial mesoderm development based on interactions with Bmpr1a ^[9]
    • positive regulation of cardiac muscle cell proliferation based on interactions with Fgf9, Fgfr2 ^[4]
    • positive regulation of cell proliferation based on interactions with Fgf21, Fgfr2, Klb ^{[5, 16]}
    • positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway based on interactions with Fgf21, Klb ^[16]
    • positive regulation of mesenchymal cell proliferation based on interactions with Fgfr2 ^[21]
    • positive regulation of neuron projection development based on interactions with Ncam1 ^[1]
    • regulation of lateral mesodermal cell fate specification based on interactions with Bmpr1a ^[9]
    • ureteric bud development based on interactions with Fgfr2 ^[12]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Fgfr1:
  • participates in the following biological processes:
    • central nervous system neuron development
    • fibroblast growth factor receptor signaling pathway
    • motogenic signaling involved in postnatal olfactory bulb interneuron migration
    • negative regulation of osteoblast differentiation
    • neuron projection development
    • peptidyl-tyrosine phosphorylation
    • positive regulation of cell proliferation
    • positive regulation of MAP kinase activity
    • positive regulation of MAPK cascade
    • positive regulation of mesenchymal cell proliferation
    • positive regulation of neuron differentiation
    • positive regulation of neuron projection development
    • positive regulation of phospholipase C activity
    • positive regulation of transcription from RNA polymerase II promoter
    • protein autophosphorylation
    • regulation of cell proliferation
    • regulation of sensory perception of pain
    • regulation of stem cell proliferation
    • stem cell maintenance
  • performs the following molecular functions:
    • cell adhesion molecule binding
    • fibroblast growth factor binding
    • fibroblast growth factor-activated receptor activity
    • glycoprotein binding
    • heparin binding
    • identical protein binding
    • protein complex binding
    • protein homodimerization activity
    • protein tyrosine kinase activity
  • is located in the following cellular components:
    • plasma membrane

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Summary text based on GO annotations supported by structural data

• Fgfr1 encodes a protein or proteins that contain the following InterPro domains: Immunoglobulin, Immunoglobulin I-set, Immunoglobulin subtype 2, Immunoglobulin-like domain, Immunoglobulin-like fold, Protein kinase, ATP binding site, Protein kinase, catalytic domain, Protein kinase-like domain, Serine-threonine/tyrosine-protein kinase catalytic domain, Tyrosine-protein kinase, active site, Tyrosine-protein kinase, catalytic domain, Tyrosine-protein kinase, fibroblast growth factor receptor, indicating that the gene product:
  • performs the following molecular functions:
    • ATP binding
    • protein kinase activity
    • transferase activity, transferring phosphorus-containing groups
  • is located in the following cellular components:
    • integral to membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Fgfr1 indicates that it:
  • participates in the following biological processes:
    • phosphorylation
  • performs the following molecular functions:
    • ATP binding
    • kinase activity
    • nucleotide binding
    • transferase activity
  • is located in the following cellular components:
    • cytoplasm
    • cytoplasmic vesicle
    • integral to membrane
    • membrane
    • nucleus
• Fgfr1 has been associated with the Enzyme Commission numbers: 2.7.10.1, which implies that the gene product:
  • performs the following molecular functions:
    • transmembrane receptor protein tyrosine kinase activity

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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. 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)
3. 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)
4. 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)
5. 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)
6. Lee JM et al. (2008) Wnt11/Fgfr1b cross-talk modulates the fate of cells in palate development. Dev Biol, 314:341-50. (PubMed:18191119)
7. 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)
8. 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)
9. 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)
10. Pau H et al. (2005) Hush puppy: a new mouse mutant with pinna, ossicle, and inner ear defects. Laryngoscope, 115:116-24. (PubMed:15630379)
11. Pirvola U et al. (2002) FGFR1 is required for the development of the auditory sensory epithelium. Neuron, 35:671-80. (PubMed:12194867)
12. 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)
13. 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)
14. 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)
15. 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)
16. 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)
17. 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)
18. 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)
19. 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)
20. Urakawa I et al. (2006) Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature, 444:770-4. (PubMed:17086194)
21. 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)
22. Yamada H et al. (1999) AT2 receptor and vascular smooth muscle cell differentiation in vascular development. Hypertension, 33:1414-9. (PubMed:10373225)
23. 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)
24. Yin Y et al. (2008) An FGF-WNT gene regulatory network controls lung mesenchyme development. Dev Biol, 319:426-36. (PubMed:18533146)

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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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