| URN | urn:agi-llid:2260 |
|---|---|
| Connectivity | 428 |
| Name | Fgfr1 |
| Description | fibroblast growth factor receptor 1 |
| Notes | 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] |
| Pathway | FGFR -> AP-1/CREB/CREBBP/ELK-SRF/MYC signaling |
|---|---|
| FGFR1 -> STAT signaling | |
| FGFR -> RUNX2 signaling | |
| cerium oxide nanoparticle response pathway |
| GO Molecular Function | nucleotide binding |
|---|---|
| transferase activity | |
| glycoprotein binding | |
| protein complex binding | |
| cell adhesion molecule binding | |
| fibroblast growth factor binding | |
| ATP binding | |
| heparin binding | |
| kinase activity | |
| protein kinase activity | |
| protein tyrosine kinase activity | |
| transmembrane receptor protein tyrosine kinase activity | |
| fibroblast growth factor receptor activity | |
| receptor activity |
| GO Cellular Component | extracellular region |
|---|---|
| membrane | |
| plasma membrane | |
| membrane fraction | |
| integral to membrane | |
| integral to plasma membrane |
| GO Biological Process | regulation of cell proliferation |
|---|---|
| positive regulation of cell proliferation | |
| cell growth | |
| stem cell maintenance | |
| motogenic signaling involved in postnatal olfactory bulb interneuron migration | |
| cell maturation | |
| positive regulation of cardiac muscle cell proliferation | |
| induction of an organ | |
| midbrain development | |
| blood vessel morphogenesis | |
| angiogenesis | |
| negative regulation of osteoblast differentiation | |
| skeletal system development | |
| ureteric bud development | |
| brain development | |
| lung development | |
| positive regulation of neuron projection development | |
| lung-associated mesenchyme development | |
| paraxial mesoderm development | |
| chondrocyte differentiation | |
| mesenchymal cell differentiation | |
| central nervous system neuron development | |
| generation of neurons | |
| regulation of lateral mesodermal cell fate specification | |
| inner ear morphogenesis | |
| salivary gland morphogenesis | |
| branching involved in salivary gland morphogenesis | |
| regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling | |
| embryonic limb morphogenesis | |
| in utero embryonic development | |
| regulation of sensory perception of pain | |
| neuron projection development | |
| positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway | |
| regulation of stem cell proliferation | |
| MAPKKK cascade | |
| positive regulation of mesenchymal cell proliferation | |
| negative regulation of apoptosis | |
| protein amino acid phosphorylation | |
| regulation of gene expression | |
| fibroblast growth factor receptor signaling pathway |
| Ariadne Ontology | GFR |
|---|
| Group | GFR |
|---|---|
| extracellular region | |
| regulation of cell proliferation | |
| positive regulation of cell proliferation | |
| cell growth | |
| stem cell maintenance | |
| motogenic signaling involved in postnatal olfactory bulb interneuron migration | |
| cell maturation | |
| positive regulation of cardiac muscle cell proliferation | |
| induction of an organ | |
| midbrain development | |
| blood vessel morphogenesis | |
| angiogenesis | |
| negative regulation of osteoblast differentiation | |
| skeletal system development | |
| ureteric bud development | |
| brain development | |
| lung development | |
| positive regulation of neuron projection development | |
| lung-associated mesenchyme development | |
| paraxial mesoderm development | |
| chondrocyte differentiation | |
| mesenchymal cell differentiation | |
| central nervous system neuron development | |
| generation of neurons | |
| regulation of lateral mesodermal cell fate specification | |
| inner ear morphogenesis | |
| salivary gland morphogenesis | |
| branching involved in salivary gland morphogenesis | |
| regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling | |
| embryonic limb morphogenesis | |
| in utero embryonic development | |
| regulation of sensory perception of pain | |
| neuron projection development | |
| positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway | |
| regulation of stem cell proliferation | |
| MAPKKK cascade | |
| positive regulation of mesenchymal cell proliferation | |
| negative regulation of apoptosis | |
| protein amino acid phosphorylation | |
| regulation of gene expression | |
| fibroblast growth factor receptor signaling pathway | |
| nucleotide binding | |
| transferase activity | |
| glycoprotein binding | |
| protein complex binding | |
| cell adhesion molecule binding | |
| fibroblast growth factor binding | |
| ATP binding | |
| heparin binding | |
| kinase activity | |
| protein kinase activity | |
| protein tyrosine kinase activity | |
| transmembrane receptor protein tyrosine kinase activity | |
| fibroblast growth factor receptor activity | |
| receptor activity | |
| membrane | |
| plasma membrane | |
| membrane fraction | |
| integral to membrane | |
| integral to plasma membrane |
| MedScan ID | 2260 |
|---|
| Hugo ID | 3688 |
|---|
| Human chromosome position | 8p11.2-p11.1 |
|---|
| LocusLink ID | 2260 |
|---|---|
| 14182 | |
| 79114 |
| Alias | CEK |
|---|---|
| FLG | |
| OGD | |
| FLT2 | |
| KAL2 | |
| BFGFR | |
| CD331 | |
| FGFBR | |
| HBGFR | |
| N-SAM | |
| FLJ99988 | |
| basic fibroblast growth factor receptor 1 | |
| FLT-2 | |
| FGFR-1 | |
| bFGF-R-1 | |
| OTTHUMP00000190875 | |
| OTTHUMP00000190876 | |
| OTTHUMP00000190880 | |
| proto-oncogene c-Fgr | |
| soluble FGFR1 variant 1 | |
| soluble FGFR1 variant 2 | |
| FMS-like tyrosine kinase 2 | |
| hydroxyaryl-protein kinase | |
| fms-related tyrosine kinase 2 | |
| heparin-binding growth factor receptor | |
| AW208770 | |
| MFR | |
| c-fgr | |
| OTTMUSP00000040525 | |
| OTTMUSP00000040526 | |
| OTTMUSP00000040527 | |
| OTTMUSP00000040528 | |
| OTTMUSP00000040529 | |
| bFGF-R | |
| FGF receptor-1 | |
| Basic fibroblast growth factor receptor I | |
| bFGF receptor 1 | |
| bFGF receptor I | |
| FGF receptor I | |
| FGFR I | |
| FGFR1 | |
| FGR I | |
| FGR1 | |
| FGR1_HUMAN | |
| FGR1_MOUSE | |
| fibroblast growth factor (FGF) receptor 1 | |
| fibroblast growth factor receptor 1 | |
| fibroblast growth factor receptor 1 isoform 1 | |
| fibroblast growth factor receptor 1 isoform 2 | |
| fibroblast growth factor receptor 1 isoform 3 | |
| fibroblast growth factor receptor 1 isoform 4 | |
| fibroblast growth factor receptor 1 isoform 5 | |
| fibroblast growth factor receptor 1 isoform 6 | |
| fibroblast growth factor receptor 1 isoform 7 | |
| fibroblast growth factor receptor 1 isoform 8 | |
| fibroblast growth factor receptor 1 isoform 9 | |
| FLG protein | |
| FLJ14326 | |
| Fms-like tyrosine kinase II | |
| fms-related tyrosine kinase II | |
| heparin-binding growth factor receptors | |
| Kallmann syndrome 2 (autosomal dominant) | |
| Kallmann syndrome 2 protein | |
| Kallmann syndrome II | |
| LOC360286 | |
| LOC497708 | |
| LOC51033 | |
| N-sam tyrosine kinase | |
| OTTHUMP00000190874 | |
| OTTHUMP00000190878 | |
| OTTHUMP00000190879 | |
| OTTHUMP00000190881 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 136350 |
|---|---|
| 207410 | |
| 146110 | |
| 123150 | |
| 147950 | |
| 166250 | |
| 101600 | |
| 190440 |
| Mouse chromosome position | 8 10.0 cM |
|---|
| GO ID | 0005524 |
|---|---|
| 0017134 | |
| 0005007 | |
| 0008201 | |
| 0000166 | |
| 0004713 | |
| 0004872 | |
| 0016740 | |
| 0000165 | |
| 0001525 | |
| 0060445 | |
| 0016049 | |
| 0048469 | |
| 0002062 | |
| 0030326 | |
| 0008543 | |
| 0048699 | |
| 0001701 | |
| 0001759 | |
| 0042472 | |
| 0030324 | |
| 0048762 | |
| 0030901 | |
| 0043066 | |
| 0031175 | |
| 0048339 | |
| 0090080 | |
| 0060045 | |
| 0008284 | |
| 0002053 | |
| 0006468 | |
| 0060665 | |
| 0010468 | |
| 0048378 | |
| 0001501 | |
| 0001657 | |
| 0005576 | |
| 0016021 | |
| 0005887 | |
| 0005624 | |
| 0005886 | |
| 0050839 | |
| 0001948 | |
| 0016301 | |
| 0032403 | |
| 0004672 | |
| 0004714 | |
| 0048514 | |
| 0007420 | |
| 0021954 | |
| 0060484 | |
| 0021837 | |
| 0045668 | |
| 0010976 | |
| 0042127 | |
| 0051930 | |
| 0072091 | |
| 0007435 | |
| 0019827 | |
| 0016020 |
| Rat chromosome position | 16q12.4 |
|---|
| Swiss-Prot Accession | P11362 |
|---|---|
| Q53G05 | |
| Q59H40 | |
| Q7Z2S2 | |
| P16092 | |
| Q8CBY7 | |
| Q8CIM9 | |
| Q3TJ05 | |
| Q60818 | |
| Q60830 | |
| Q61565 | |
| Q8CFK8 | |
| Q9JJ17 | |
| Q9QZM7 | |
| Q9R1A2 | |
| Q04589 | |
| O35758 | |
| O35759 | |
| Q63827 | |
| A8K6T9 | |
| A8K8V5 | |
| C1KBH8 | |
| P17049 | |
| Q02063 | |
| Q02065 | |
| Q14306 | |
| Q14307 | |
| Q53H63 | |
| Q5BJG2 | |
| Q8N685 | |
| Q9UD50 | |
| Q9UDF0 | |
| Q9UDF1 | |
| Q9UDF2 | |
| Q01736 | |
| Q61562 | |
| Q80T10 |
| PIR ID | A41266 |
|---|---|
| C36464 | |
| C40862 | |
| S11692 | |
| S19167 | |
| S29840 | |
| A34849 | |
| JH0393 |
| Unigene ID | Hs.264887 |
|---|---|
| Mm.265716 | |
| Rn.9797 | |
| Rn.207203 |
| KEGG ID | hsa:2260 |
|---|---|
| mmu:14182 | |
| rno:79114 |
| EC Number | 2.7.10.1 |
|---|
| Swiss-Prot ID | FGFR1_HUMAN |
|---|---|
| FGFR1_RAT | |
| FGFR1_MOUSE | |
| Q8CIM9_MOUSE | |
| Q8CBY7_MOUSE | |
| Q53G05_HUMAN |
| Cell Localization | Membrane |
|---|---|
| Plasma membrane |
| IPI ID | IPI00005142 |
|---|---|
| IPI00012036 | |
| IPI00012039 | |
| IPI00012042 | |
| IPI00165947 | |
| IPI00216859 | |
| IPI00220983 | |
| IPI00328245 | |
| IPI00332838 | |
| IPI00410124 | |
| IPI00410125 | |
| IPI00410216 | |
| IPI00410217 | |
| IPI00410218 | |
| IPI00410219 | |
| IPI00410220 | |
| IPI00410223 | |
| IPI00455176 | |
| IPI00954560 | |
| IPI00215356 | |
| IPI00130549 | |
| IPI00399479 | |
| IPI00466590 | |
| IPI00894725 | |
| IPI00384910 | |
| IPI00747794 | |
| IPI00829683 | |
| IPI00792891 | |
| IPI00853405 | |
| IPI00853572 | |
| IPI00852680 | |
| IPI00852600 | |
| IPI00894695 | |
| IPI00894604 | |
| IPI00895069 | |
| IPI00882466 | |
| IPI00882451 | |
| IPI00211497 | |
| IPI00390458 | |
| IPI00565454 |
| Homologene ID | 69065 |
|---|
| RGD ID | 620713 |
|---|
| MGI ID | 95522 |
|---|