| Tag | Content |
|---|---|
| Uniprot ID | P16092; E9Q2P4; Q01736; Q60830; Q61562; Q80T10; Q8CFK8; Q9QZM7; |
| Entrez ID | 14182 |
| Genbank protein ID | CAA36175.1; AAA37622.1; AAH33447.1; AAC52183.1; BAC25899.1; AAB32845.1; AAA37290.1; AAF05312.1; AAA37620.1; |
| Genbank nucleotide ID | XM_006509010.2; XM_006509012.1; NM_001079908.2; XM_011242121.1; NM_010206.3; NM_001079909.2; |
| Ensembl protein ID | ENSMUSP00000131343; ENSMUSP00000137515; ENSMUSP00000113909; ENSMUSP00000113855; ENSMUSP00000081041; |
| Ensembl nucleotide ID | ENSMUSG00000031565 |
| Gene name | Fibroblast growth factor receptor 1 |
| Gene symbol | Fgfr1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | E14.5, E16.5 |
| Data sources | Manually collected |
| Reference | 26250517; 23754280; 12514106; |
| Functional description | 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 correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. 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 IL17RD/SEF, and by FGFR1 ubiquitination, internalization and degradation (By similarity). |
| Sequence | MWGWKCLLFW AVLVTATLCT ARPAPTLPEQ AQPWGVPVEV ESLLVHPGDL LQLRCRLRDD 60 VQSINWLRDG VQLVESNRTR ITGEEVEVRD SIPADSGLYA CVTSSPSGSD TTYFSVNVSD 120 ALPSSEDDDD DDDSSSEEKE TDNTKPNRRP VAPYWTSPEK MEKKLHAVPA AKTVKFKCPS 180 SGTPNPTLRW LKNGKEFKPD HRIGGYKVRY ATWSIIMDSV VPSDKGNYTC IVENEYGSIN 240 HTYQLDVVER SPHRPILQAG LPANKTVALG SNVEFMCKVY SDPQPHIQWL KHIEVNGSKI 300 GPDNLPYVQI LKTAGVNTTD KEMEVLHLRN VSFEDAGEYT CLAGNSIGLS HHSAWLTVLE 360 ALEERPAVMT SPLYLEIIIY CTGAFLISCM LGSVIIYKMK SGTKKSDFHS QMAVHKLAKS 420 IPLRRQVTVS ADSSASMNSG VLLVRPSRLS SSGTPMLAGV SEYELPEDPR WELPRDRLVL 480 GKPLGEGCFG QVVLAEAIGL DKDKPNRVTK VAVKMLKSDA TEKDLSDLIS EMEMMKMIGK 540 HKNIINLLGA CTQDGPLYVI VEYASKGNLR EYLQARRPPG LEYCYNPSHN PEEQLSSKDL 600 VSCAYQVARG MEYLASKKCI HRDLAARNVL VTEDNVMKIA DFGLARDIHH IDYYKKTTNG 660 RLPVKWMAPE ALFDRIYTHQ SDVWSFGVLL WEIFTLGGSP YPGVPVEELF KLLKEGHRMD 720 KPSNCTNELY MMMRDCWHAV PSQRPTFKQL VEDLDRIVAL TSNQEYLDLS IPLDQYSPSF 780 PDTRSSTCSS GEDSVFSHEP LPEEPCLPRH PTQLANSGLK RR 822 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | FGFR1 | 281768 | A4IFL5 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | FGFR1 | 100856477 | A0A5F4CQJ1 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | FGFR1 | A0A452E6I8 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | FGFR1 | 2260 | P11362 | CL/P | Homo sapiens | Publication | More>> | |
| 1:1 ortholog | Fgfr1 | 14182 | P16092 | CPO | E14.5, E16.5 | Mus musculus | Publication | More>> |
| 1:1 ortholog | FGFR1 | A0A2I3RMA9 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | Fgfr1 | F1LM54 | Rattus norvegicus | Prediction | More>> | |||
| 1:1 ortholog | fgfr1b | F1Q5T3 | Danio rerio | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| FGFR1 | rs13317A>G | GWAS | 28232668 |
| FGFR1 | c.1868A>G; p.Asp623Gly (heterozygous) | Sanger sequencing | 31512363 |
| FGFR1 | c.874C>G; p.His292Asp (heterozygous) | Clinical exome sequencing and Sanger sequencing | 32871658 |
| FGFR1 | c.358C>T; p.R120C (heterozygous) | Next-Generation Sequencing; Sanger sequencing | 26199944 |
| FGFR1 | c.776G>A; p.G259E (heterozygous) | Next-Generation Sequencing; Sanger sequencing | 26199944 |
| FGFR1 | rs7829058G>C | Genotyping | 21462296 |
| FGFR1 | rs674354C>T | Genotyping | 21462296 |
| FGFR1 | rs13317 | Genotyping | 17366557 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0004713 | protein tyrosine kinase activity | ISO |
| GO:0004714 | transmembrane receptor protein tyrosine kinase activity | IBA |
| GO:0005007 | fibroblast growth factor-activated receptor activity | ISO |
| GO:0005007 | fibroblast growth factor-activated receptor activity | IDA |
| GO:0005007 | fibroblast growth factor-activated receptor activity | IBA |
| GO:0005102 | signaling receptor binding | ISO |
| GO:0005515 | protein binding | IPI |
| GO:0005524 | ATP binding | IEA |
| GO:0008201 | heparin binding | ISS |
| GO:0008201 | heparin binding | ISO |
| GO:0017134 | fibroblast growth factor binding | ISS |
| GO:0017134 | fibroblast growth factor binding | ISO |
| GO:0017134 | fibroblast growth factor binding | IPI |
| GO:0017134 | fibroblast growth factor binding | IDA |
| GO:0017134 | fibroblast growth factor binding | IBA |
| GO:0042169 | SH2 domain binding | IPI |
| GO:0042802 | identical protein binding | ISO |
| GO:0042803 | protein homodimerization activity | ISO |
| GO:0044877 | protein-containing complex binding | ISO |
| GO:0050839 | cell adhesion molecule binding | ISO |
| GO:0090722 | receptor-receptor interaction | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IMP |
| GO:0001525 | angiogenesis | IGI |
| GO:0001657 | ureteric bud development | IGI |
| GO:0001701 | in utero embryonic development | IGI |
| GO:0001759 | organ induction | IMP |
| GO:0002053 | positive regulation of mesenchymal cell proliferation | ISO |
| GO:0002053 | positive regulation of mesenchymal cell proliferation | IGI |
| GO:0002053 | positive regulation of mesenchymal cell proliferation | IMP |
| GO:0002062 | chondrocyte differentiation | IGI |
| GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | IBA |
| GO:0007275 | multicellular organism development | IBA |
| GO:0007420 | brain development | IMP |
| GO:0007435 | salivary gland morphogenesis | IMP |
| GO:0007605 | sensory perception of sound | IMP |
| GO:0008284 | positive regulation of cell population proliferation | ISO |
| GO:0008284 | positive regulation of cell population proliferation | IGI |
| GO:0008284 | positive regulation of cell population proliferation | IMP |
| GO:0008284 | positive regulation of cell population proliferation | IDA |
| GO:0008284 | positive regulation of cell population proliferation | TAS |
| GO:0008543 | fibroblast growth factor receptor signaling pathway | ISO |
| GO:0008543 | fibroblast growth factor receptor signaling pathway | IGI |
| GO:0010468 | regulation of gene expression | IMP |
| GO:0010629 | negative regulation of gene expression | IMP |
| GO:0010629 | negative regulation of gene expression | IGI |
| GO:0010763 | positive regulation of fibroblast migration | ISO |
| GO:0010863 | positive regulation of phospholipase C activity | ISS |
| GO:0010863 | positive regulation of phospholipase C activity | ISO |
| GO:0010966 | regulation of phosphate transport | IGI |
| GO:0010976 | positive regulation of neuron projection development | ISO |
| GO:0010976 | positive regulation of neuron projection development | IGI |
| GO:0018108 | peptidyl-tyrosine phosphorylation | ISS |
| GO:0018108 | peptidyl-tyrosine phosphorylation | ISO |
| GO:0019827 | stem cell population maintenance | ISO |
| GO:0021769 | orbitofrontal cortex development | IMP |
| GO:0021837 | motogenic signaling involved in postnatal olfactory bulb interneuron migration | ISO |
| GO:0021847 | ventricular zone neuroblast division | IMP |
| GO:0021954 | central nervous system neuron development | ISO |
| GO:0030324 | lung development | IMP |
| GO:0030324 | lung development | IGI |
| GO:0030326 | embryonic limb morphogenesis | IMP |
| GO:0030901 | midbrain development | IGI |
| GO:0030901 | midbrain development | IMP |
| GO:0031175 | neuron projection development | ISO |
| GO:0033674 | positive regulation of kinase activity | IBA |
| GO:0035607 | fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development | IMP |
| GO:0042127 | regulation of cell population proliferation | ISO |
| GO:0042127 | regulation of cell population proliferation | IMP |
| GO:0042472 | inner ear morphogenesis | IMP |
| GO:0042473 | outer ear morphogenesis | IMP |
| GO:0042474 | middle ear morphogenesis | IMP |
| GO:0043406 | positive regulation of MAP kinase activity | ISS |
| GO:0043406 | positive regulation of MAP kinase activity | ISO |
| GO:0043410 | positive regulation of MAPK cascade | ISO |
| GO:0043536 | positive regulation of blood vessel endothelial cell migration | ISO |
| GO:0043583 | ear development | IMP |
| GO:0045597 | positive regulation of cell differentiation | IBA |
| GO:0045666 | positive regulation of neuron differentiation | ISS |
| GO:0045666 | positive regulation of neuron differentiation | ISO |
| GO:0045668 | negative regulation of osteoblast differentiation | ISO |
| GO:0045787 | positive regulation of cell cycle | IMP |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISO |
| GO:0046777 | protein autophosphorylation | ISS |
| GO:0046777 | protein autophosphorylation | ISO |
| GO:0048339 | paraxial mesoderm development | IGI |
| GO:0048378 | regulation of lateral mesodermal cell fate specification | IGI |
| GO:0048469 | cell maturation | IMP |
| GO:0048514 | blood vessel morphogenesis | IMP |
| GO:0048699 | generation of neurons | IMP |
| GO:0048762 | mesenchymal cell differentiation | IGI |
| GO:0051174 | regulation of phosphorus metabolic process | IGI |
| GO:0051930 | regulation of sensory perception of pain | ISO |
| GO:0060045 | positive regulation of cardiac muscle cell proliferation | ISO |
| GO:0060045 | positive regulation of cardiac muscle cell proliferation | IGI |
| GO:0060117 | auditory receptor cell development | IMP |
| GO:0060445 | branching involved in salivary gland morphogenesis | IMP |
| GO:0060484 | lung-associated mesenchyme development | IGI |
| GO:0060665 | regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling | IDA |
| GO:0060979 | vasculogenesis involved in coronary vascular morphogenesis | TAS |
| GO:0070640 | vitamin D3 metabolic process | IGI |
| GO:0072091 | regulation of stem cell proliferation | ISO |
| GO:0090080 | positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway | IGI |
| GO:0090272 | negative regulation of fibroblast growth factor production | IGI |
| GO:1903465 | positive regulation of mitotic cell cycle DNA replication | IDA |
| GO:1905564 | positive regulation of vascular endothelial cell proliferation | ISO |
| GO:2000546 | positive regulation of endothelial cell chemotaxis to fibroblast growth factor | ISO |
| GO:2000830 | positive regulation of parathyroid hormone secretion | IGI |
| GO:2001239 | regulation of extrinsic apoptotic signaling pathway in absence of ligand | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISO |
| GO:0005737 | cytoplasm | ISO |
| GO:0005829 | cytosol | IEA |
| GO:0005886 | plasma membrane | ISS |
| GO:0005886 | plasma membrane | ISO |
| GO:0005886 | plasma membrane | IPI |
| GO:0005886 | plasma membrane | TAS |
| GO:0005887 | integral component of plasma membrane | IBA |
| GO:0031410 | cytoplasmic vesicle | IEA |
| GO:0043235 | receptor complex | IBA |
| GO:0043235 | receptor complex | ISO |
| GO:0048471 | perinuclear region of cytoplasm | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-109704 | PI3K Cascade | IEA |
| R-MMU-112399 | IRS-mediated signalling | IEA |
| R-MMU-1257604 | PIP3 activates AKT signaling | IEA |
| R-MMU-1266738 | Developmental Biology | IEA |
| R-MMU-1280215 | Cytokine Signaling in Immune system | IEA |
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-168256 | Immune System | IEA |
| R-MMU-190236 | Signaling by FGFR | IEA |
| R-MMU-190242 | FGFR1 ligand binding and activation | IEA |
| R-MMU-190370 | FGFR1b ligand binding and activation | IEA |
| R-MMU-190373 | FGFR1c ligand binding and activation | IEA |
| R-MMU-190374 | FGFR1c and Klotho ligand binding and activation | IEA |
| R-MMU-199418 | Negative regulation of the PI3K/AKT network | IEA |
| R-MMU-2404192 | Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) | IEA |
| R-MMU-2428924 | IGF1R signaling cascade | IEA |
| R-MMU-2428928 | IRS-related events triggered by IGF1R | IEA |
| R-MMU-373760 | L1CAM interactions | IEA |
| R-MMU-422475 | Axon guidance | IEA |
| R-MMU-445144 | Signal transduction by L1 | IEA |
| R-MMU-5654219 | Phospholipase C-mediated cascade: FGFR1 | IEA |
| R-MMU-5654687 | Downstream signaling of activated FGFR1 | IEA |
| R-MMU-5654688 | SHC-mediated cascade:FGFR1 | IEA |
| R-MMU-5654689 | PI-3K cascade:FGFR1 | IEA |
| R-MMU-5654693 | FRS-mediated FGFR1 signaling | IEA |
| R-MMU-5654726 | Negative regulation of FGFR1 signaling | IEA |
| R-MMU-5654736 | Signaling by FGFR1 | IEA |
| R-MMU-5673001 | RAF/MAP kinase cascade | IEA |
| R-MMU-5683057 | MAPK family signaling cascades | IEA |
| R-MMU-5684996 | MAPK1/MAPK3 signaling | IEA |
| R-MMU-6811558 | PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | IEA |
| R-MMU-74751 | Insulin receptor signalling cascade | IEA |
| R-MMU-74752 | Signaling by Insulin receptor | IEA |
| R-MMU-9006925 | Intracellular signaling by second messengers | IEA |
| R-MMU-9006934 | Signaling by Receptor Tyrosine Kinases | IEA |
| R-MMU-9607240 | FLT3 Signaling | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0002 | 3D-structure |
| KW-0025 | Alternative splicing |
| KW-0067 | ATP-binding |
| KW-1003 | Cell membrane |
| KW-0963 | Cytoplasm |
| KW-0968 | Cytoplasmic vesicle |
| KW-1015 | Disulfide bond |
| KW-0325 | Glycoprotein |
| KW-0358 | Heparin-binding |
| KW-0393 | Immunoglobulin domain |
| KW-0418 | Kinase |
| KW-0472 | Membrane |
| KW-0547 | Nucleotide-binding |
| KW-0539 | Nucleus |
| KW-0597 | Phosphoprotein |
| KW-0675 | Receptor |
| KW-1185 | Reference proteome |
| KW-0677 | Repeat |
| KW-0732 | Signal |
| KW-0808 | Transferase |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |
| KW-0829 | Tyrosine-protein kinase |
| KW-0832 | Ubl conjugation |
| InterPro ID | InterPro Term |
|---|---|
| IPR028174 | FGF_rcpt_1 |
| IPR016248 | FGF_rcpt_fam |
| IPR041159 | FGFR_TM |
| IPR007110 | Ig-like_dom |
| IPR036179 | Ig-like_dom_sf |
| IPR013783 | Ig-like_fold |
| IPR013098 | Ig_I-set |
| IPR003599 | Ig_sub |
| IPR003598 | Ig_sub2 |
| IPR013151 | Immunoglobulin |
| IPR011009 | Kinase-like_dom_sf |
| IPR000719 | Prot_kinase_dom |
| IPR017441 | Protein_kinase_ATP_BS |
| IPR001245 | Ser-Thr/Tyr_kinase_cat_dom |
| IPR008266 | Tyr_kinase_AS |
| IPR020635 | Tyr_kinase_cat_dom |