UniProtKB - P11362 (FGFR1_HUMAN)
Fibroblast growth factor receptor 1
FGFR1
Functioni
Catalytic activityi
- ATP + L-tyrosyl-[protein] = ADP + H+ + O-phospho-L-tyrosyl-[protein]PROSITE-ProRule annotation7 PublicationsEC:2.7.10.1PROSITE-ProRule annotation7 Publications
Activity regulationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 514 | ATP | 1 | |
Binding sitei | 568 | ATP | 1 | |
Active sitei | 623 | Proton acceptorPROSITE-ProRule annotation1 Publication | 1 | |
Binding sitei | 627 | ATP | 1 | |
Binding sitei | 641 | ATP | 1 | |
Sitei | 766 | Mediates interaction with PLCG1 and SHB | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 484 – 490 | ATP | 7 | |
Nucleotide bindingi | 562 – 564 | ATP | 3 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- fibroblast growth factor-activated receptor activity Source: UniProtKB
- fibroblast growth factor binding Source: UniProtKB
- heparin binding Source: UniProtKB
- identical protein binding Source: IntAct
- protein homodimerization activity Source: UniProtKB
- protein tyrosine kinase activity Source: UniProtKB
- receptor-receptor interaction Source: ParkinsonsUK-UCL
- SH2 domain binding Source: Ensembl
- transmembrane receptor protein tyrosine kinase activity Source: GO_Central
GO - Biological processi
- angiogenesis Source: Ensembl
- auditory receptor cell development Source: Ensembl
- branching involved in salivary gland morphogenesis Source: Ensembl
- cell maturation Source: Ensembl
- cell migration Source: UniProtKB
- chondrocyte differentiation Source: Ensembl
- chordate embryonic development Source: UniProtKB
- embryonic limb morphogenesis Source: Ensembl
- epithelial to mesenchymal transition Source: BHF-UCL
- fibroblast growth factor receptor signaling pathway Source: UniProtKB
- fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development Source: Ensembl
- inner ear morphogenesis Source: Ensembl
- in utero embryonic development Source: Ensembl
- lung-associated mesenchyme development Source: Ensembl
- MAPK cascade Source: Reactome
- midbrain development Source: Ensembl
- middle ear morphogenesis Source: Ensembl
- multicellular organism development Source: GO_Central
- negative regulation of fibroblast growth factor production Source: Ensembl
- negative regulation of transcription by RNA polymerase II Source: Ensembl
- neuron migration Source: UniProtKB
- organ induction Source: Ensembl
- outer ear morphogenesis Source: Ensembl
- paraxial mesoderm development Source: Ensembl
- peptidyl-tyrosine phosphorylation Source: UniProtKB
- phosphatidylinositol-mediated signaling Source: UniProtKB
- positive regulation of blood vessel endothelial cell migration Source: BHF-UCL
- positive regulation of cardiac muscle cell proliferation Source: Ensembl
- positive regulation of cell differentiation Source: GO_Central
- positive regulation of cell population proliferation Source: UniProtKB
- positive regulation of endothelial cell chemotaxis to fibroblast growth factor Source: BHF-UCL
- positive regulation of kinase activity Source: GO_Central
- positive regulation of MAPK cascade Source: UniProtKB
- positive regulation of MAP kinase activity Source: UniProtKB
- positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway Source: Ensembl
- positive regulation of mesenchymal cell proliferation Source: Ensembl
- positive regulation of mitotic cell cycle DNA replication Source: Ensembl
- positive regulation of neuron differentiation Source: UniProtKB
- positive regulation of neuron projection development Source: Ensembl
- positive regulation of parathyroid hormone secretion Source: Ensembl
- positive regulation of phosphatidylinositol 3-kinase signaling Source: UniProtKB
- positive regulation of phospholipase activity Source: UniProtKB
- positive regulation of phospholipase C activity Source: UniProtKB
- positive regulation of protein kinase B signaling Source: BHF-UCL
- positive regulation of vascular endothelial cell proliferation Source: BHF-UCL
- protein autophosphorylation Source: UniProtKB
- protein phosphorylation Source: UniProtKB
- regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling Source: Ensembl
- regulation of cell differentiation Source: UniProtKB
- regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: BHF-UCL
- regulation of lateral mesodermal cell fate specification Source: Ensembl
- regulation of phosphate transport Source: Ensembl
- sensory perception of sound Source: Ensembl
- skeletal system development Source: ProtInc
- skeletal system morphogenesis Source: UniProtKB
- transmembrane receptor protein tyrosine kinase signaling pathway Source: GO_Central
- ureteric bud development Source: Ensembl
- ventricular zone neuroblast division Source: Ensembl
- vitamin D3 metabolic process Source: Ensembl
Keywordsi
Molecular function | Heparin-binding, Kinase, Receptor, Transferase, Tyrosine-protein kinase |
Biological process | Transcription, Transcription regulation |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 2.7.10.1, 2681 |
PathwayCommonsi | P11362 |
Reactomei | R-HSA-109704, PI3K Cascade R-HSA-1257604, PIP3 activates AKT signaling R-HSA-1839120, Signaling by FGFR1 amplification mutants R-HSA-1839122, Signaling by activated point mutants of FGFR1 R-HSA-190370, FGFR1b ligand binding and activation [P11362-19] R-HSA-190373, FGFR1c ligand binding and activation [P11362-1] R-HSA-190374, FGFR1c and Klotho ligand binding and activation [P11362-1] R-HSA-2219530, Constitutive Signaling by Aberrant PI3K in Cancer R-HSA-375165, NCAM signaling for neurite out-growth [P11362-1] R-HSA-445144, Signal transduction by L1 [P11362-1] R-HSA-5654219, Phospholipase C-mediated cascade: FGFR1 R-HSA-5654687, Downstream signaling of activated FGFR1 R-HSA-5654688, SHC-mediated cascade:FGFR1 R-HSA-5654689, PI-3K cascade:FGFR1 R-HSA-5654693, FRS-mediated FGFR1 signaling R-HSA-5654726, Negative regulation of FGFR1 signaling R-HSA-5655302, Signaling by FGFR1 in disease R-HSA-5673001, RAF/MAP kinase cascade R-HSA-6811558, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling R-HSA-8853336, Signaling by plasma membrane FGFR1 fusions |
SignaLinki | P11362 |
SIGNORi | P11362 |
Protein family/group databases
TCDBi | 8.A.23.1.7, the basigin (basigin) family |
Names & Taxonomyi
Protein namesi | Recommended name: Fibroblast growth factor receptor 1 (EC:2.7.10.17 Publications)Short name: FGFR-1 Alternative name(s): Basic fibroblast growth factor receptor 1 Short name: BFGFR Short name: bFGF-R-1 Fms-like tyrosine kinase 2 Short name: FLT-2 N-sam Proto-oncogene c-Fgr CD_antigen: CD331 |
Gene namesi | Name:FGFR1 Synonyms:BFGFR, CEK, FGFBR, FLG, FLT2, HBGFR |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000077782.19 |
HGNCi | HGNC:3688, FGFR1 |
MIMi | 136350, gene |
neXtProti | NX_P11362 |
Subcellular locationi
Cytosol
Nucleus
Plasma membrane
Other locations
Note: After ligand binding, both receptor and ligand are rapidly internalized. Can translocate to the nucleus after internalization, or by translocation from the endoplasmic reticulum or Golgi apparatus to the cytosol, and from there to the nucleus.
Cytosol
- cytosol Source: UniProtKB-SubCell
Extracellular region or secreted
- extracellular region Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB-SubCell
Plasma Membrane
- integral component of plasma membrane Source: GO_Central
- plasma membrane Source: UniProtKB
Other locations
- cytoplasmic vesicle Source: UniProtKB-KW
- integral component of membrane Source: UniProtKB
- receptor complex Source: MGI
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 22 – 376 | ExtracellularSequence analysisAdd BLAST | 355 | |
Transmembranei | 377 – 397 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 398 – 822 | CytoplasmicSequence analysisAdd BLAST | 425 |
Keywords - Cellular componenti
Cell membrane, Cytoplasm, Cytoplasmic vesicle, Membrane, NucleusPathology & Biotechi
Involvement in diseasei
Pfeiffer syndrome (PS)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_004111 | 252 | P → R in PS and JWS. 2 PublicationsCorresponds to variant dbSNP:rs121909627EnsemblClinVar. | 1 |
Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)15 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Natural variantiVAR_074012 | 4 | W → C in HH2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs760884357Ensembl. | 1 | ||
Natural variantiVAR_030968 | 48 | G → S in HH2; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. 1 PublicationCorresponds to variant dbSNP:rs121909640Ensembl. | 1 | ||
Natural variantiVAR_072993 | 70 | G → R in HH2. 1 PublicationCorresponds to variant dbSNP:rs140254426Ensembl. | 1 | ||
Natural variantiVAR_030970 | 78 | R → C in HH2. 1 PublicationCorresponds to variant dbSNP:rs1554570706EnsemblClinVar. | 1 | ||
Natural variantiVAR_074013 | 96 | S → C in HH2; unknown pathological significance. 1 Publication | 1 | ||
Natural variantiVAR_017885 | 97 | G → D in HH2. 1 Publication | 1 | ||
Natural variantiVAR_017886 | 99 | Y → C in HH2; impairs the tertiary folding resulting in incomplete glycosylation and reduced cell surface expression. 2 PublicationsCorresponds to variant dbSNP:rs727505373EnsemblClinVar. | 1 | ||
Natural variantiVAR_030971 | 101 | C → F in HH2. 1 Publication | 1 | ||
Natural variantiVAR_030972 | 102 | V → I in HH2. 2 PublicationsCorresponds to variant dbSNP:rs55642501EnsemblClinVar. | 1 | ||
Natural variantiVAR_072994 | 116 | V → I in HH2. 1 PublicationCorresponds to variant dbSNP:rs747842199Ensembl. | 1 | ||
Natural variantiVAR_069288 | 117 | N → S in HH2; some patients also carry GNRHR mutations. 2 PublicationsCorresponds to variant dbSNP:rs780765366EnsemblClinVar. | 1 | ||
Natural variantiVAR_030973 | 129 | D → A in HH2. 1 PublicationCorresponds to variant dbSNP:rs765615419EnsemblClinVar. | 1 | ||
Natural variantiVAR_017887 | 167 | A → S in HH2; with cleft palate, corpus callosum agenesis, unilateral deafness and fusion of fourth and fifth metacarpal bones. 1 PublicationCorresponds to variant dbSNP:rs121909630Ensembl. | 1 | ||
Natural variantiVAR_072995 | 174 | V → A in HH2. 1 Publication | 1 | ||
Natural variantiVAR_030974 | 178 | C → S in HH2; with severe ear anomalies. 1 Publication | 1 | ||
Natural variantiVAR_030976 | 224 | D → H in HH2. 1 Publication | 1 | ||
Natural variantiVAR_069289 | 228 | Y → D in HH2; some patients also carry KISS1R mutations; impairs the tertiary folding resulting in incomplete glycosylation and reduced cell surface expression. 2 Publications | 1 | ||
Natural variantiVAR_030977 | 237 | G → D in HH2. 1 Publication | 1 | ||
Natural variantiVAR_030978 | 237 | G → S in HH2; with or without anosmia; also found in a family member with isolated anosmia; may impair proper folding. 1 PublicationCorresponds to variant dbSNP:rs121909635Ensembl. | 1 | ||
Natural variantiVAR_069290 | 239 | I → T in HH2; some patients also carry PROKR2 and GNRH1 mutations; impairs the tertiary folding resulting in incomplete glycosylation and reduced cell surface expression. 2 Publications | 1 | ||
Natural variantiVAR_030979 | 245 | L → P in HH2. 1 Publication | 1 | ||
Natural variantiVAR_069291 | 250 | R → Q in HH2; with or without anosmia; results in Kallmann syndrome in the presence of HS6ST1 mutation TRP-306; reduces receptor affinity for fibroblast growth factor. 4 PublicationsCorresponds to variant dbSNP:rs121909645Ensembl. | 1 | ||
Natural variantiVAR_030980 | 250 | R → W in HH2. 2 Publications | 1 | ||
Natural variantiVAR_030981 | 254 | R → Q in HH2. 1 Publication | 1 | ||
Natural variantiVAR_030982 | 270 | G → D in HH2. 1 Publication | 1 | ||
Natural variantiVAR_030983 | 273 | V → M in HH2. 2 PublicationsCorresponds to variant dbSNP:rs1131691929EnsemblClinVar. | 1 | ||
Natural variantiVAR_030984 | 274 | E → G in HH2; also found in a family member with isolated anosmia. Corresponds to variant dbSNP:rs727505369EnsemblClinVar. | 1 | ||
Natural variantiVAR_017888 | 277 | C → Y in HH2. 1 Publication | 1 | ||
Natural variantiVAR_030985 | 283 | P → R in HH2. 1 Publication | 1 | ||
Natural variantiVAR_080328 | 324 – 822 | Missing in HH2. 1 PublicationAdd BLAST | 499 | ||
Natural variantiVAR_030988 | 332 | S → C in HH2. 1 Publication | 1 | ||
Natural variantiVAR_030989 | 339 | Y → C in HH2. 1 Publication | 1 | ||
Natural variantiVAR_069954 | 342 | L → S in HH2; phenotype consistent with Kallmann syndrome; the patient also carries a splice site mutation in NSMF. 1 PublicationCorresponds to variant dbSNP:rs121909638Ensembl. | 1 | ||
Natural variantiVAR_030990 | 343 | A → V in HH2. 1 Publication | 1 | ||
Natural variantiVAR_030991 | 346 | S → C in HH2; also found in a family member with isolated anosmia. 1 Publication | 1 | ||
Natural variantiVAR_069955 | 348 | G → R in HH2; phenotype consistent with Kallmann syndrome; the patient also carries a mutation in IL17RD. 2 PublicationsCorresponds to variant dbSNP:rs886037634EnsemblClinVar. | 1 | ||
Natural variantiVAR_030992 | 366 | P → L in HH2; with or without anosmia. 1 PublicationCorresponds to variant dbSNP:rs121909641EnsemblClinVar. | 1 | ||
Natural variantiVAR_069292 | 470 | R → L in HH2; some patients also carry GNRHR mutations. 2 PublicationsCorresponds to variant dbSNP:rs121909637Ensembl. | 1 | ||
Natural variantiVAR_069956 | 483 | P → T in HH2; phenotype consistent with Kallmann syndrome; the patient also carries a rare variant in SPRY4. 1 PublicationCorresponds to variant dbSNP:rs397515444Ensembl. | 1 | ||
Natural variantiVAR_030995 | 520 | A → T in HH2. 1 PublicationCorresponds to variant dbSNP:rs749758370Ensembl. | 1 | ||
Natural variantiVAR_030996 | 538 | I → V in HH2. 1 Publication | 1 | ||
Natural variantiVAR_017889 | 607 | V → M in HH2; with bimanual synkinesis. 1 PublicationCorresponds to variant dbSNP:rs121909629Ensembl. | 1 | ||
Natural variantiVAR_069293 | 618 | K → N in HH2; some patients also carry GNRHR mutations; impairs tyrosine kinase activity. 2 Publications | 1 | ||
Natural variantiVAR_030997 | 621 | H → R in HH2. 1 Publication | 1 | ||
Natural variantiVAR_080329 | 622 – 822 | Missing in HH2. 1 PublicationAdd BLAST | 201 | ||
Natural variantiVAR_030998 | 622 | R → G in HH2; with severe ear anomalies. 1 PublicationCorresponds to variant dbSNP:rs121909628EnsemblClinVar. | 1 | ||
Natural variantiVAR_030999 | 622 | R → Q in HH2. 1 Publication | 1 | ||
Natural variantiVAR_080330 | 661 – 822 | Missing in HH2. 1 PublicationAdd BLAST | 162 | ||
Natural variantiVAR_017890 | 666 | W → R in HH2; with cleft palate. 1 PublicationCorresponds to variant dbSNP:rs1563433902EnsemblClinVar. | 1 | ||
Natural variantiVAR_069957 | 670 | E → K in HH2; phenotype consistent with Kallmann syndrome; the patient also carries a rare variant in FLRT3. 1 PublicationCorresponds to variant dbSNP:rs397515446Ensembl. | 1 | ||
Natural variantiVAR_069294 | 671 | A → P in HH2. 1 Publication | 1 | ||
Natural variantiVAR_031000 | 685 | S → F in HH2. 1 Publication | 1 | ||
Natural variantiVAR_031001 | 687 | G → R in HH2. 2 PublicationsCorresponds to variant dbSNP:rs727505376EnsemblClinVar. | 1 | ||
Natural variantiVAR_069958 | 692 | E → G in HH2; phenotype consistent with Kallmann syndrome; the patient also carries a rare variant in DUSP6. 1 PublicationCorresponds to variant dbSNP:rs397515445Ensembl. | 1 | ||
Natural variantiVAR_031002 | 693 | I → F in HH2. 1 Publication | 1 | ||
Natural variantiVAR_031003 | 703 | G → R in HH2. 1 Publication | 1 | ||
Natural variantiVAR_031004 | 703 | G → S in HH2. 1 PublicationCorresponds to variant dbSNP:rs768957161Ensembl. | 1 | ||
Natural variantiVAR_017891 | 719 | M → R in HH2. 1 Publication | 1 | ||
Natural variantiVAR_074014 | 719 | M → V in HH2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1085307879EnsemblClinVar. | 1 | ||
Natural variantiVAR_031005 | 722 | P → H in HH2; associated with K-724; also found in a family member with isolated anosmia; reduced tyrosine kinase activity. 2 PublicationsCorresponds to variant dbSNP:rs267606805Ensembl. | 1 | ||
Natural variantiVAR_031006 | 722 | P → S in HH2. 1 PublicationCorresponds to variant dbSNP:rs121909642Ensembl. | 1 | ||
Natural variantiVAR_031007 | 724 | N → K in HH2; associated with H-722; also found in a family member with isolated anosmia; reduced tyrosine kinase activity. 2 PublicationsCorresponds to variant dbSNP:rs267606806Ensembl. | 1 | ||
Natural variantiVAR_031008 | 745 | P → S in HH2. 2 Publications | 1 | ||
Natural variantiVAR_069959 | 768 | D → Y in HH2; the patient also carries a rare variant in FGF8. 1 PublicationCorresponds to variant dbSNP:rs121909644Ensembl. | 1 | ||
Natural variantiVAR_031010 | 795 | V → I in HH2; also found in a family member with isolated anosmia. 1 PublicationCorresponds to variant dbSNP:rs781328162Ensembl. | 1 | ||
Isoform 19 (identifier: P11362-19) | |||||
Natural variantiVAR_082843 | 353 | A → T in HH2, unknown pathological significance. 1 Publication | 1 |
Osteoglophonic dysplasia (OGD)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030987 | 330 | N → I in OGD. 2 PublicationsCorresponds to variant dbSNP:rs121909632Ensembl. | 1 | |
Natural variantiVAR_030993 | 374 | Y → C in OGD; elevated basal activity and increased FGF2-mediated activity. 1 PublicationCorresponds to variant dbSNP:rs121909631Ensembl. | 1 | |
Natural variantiVAR_030994 | 381 | C → R in OGD. 2 PublicationsCorresponds to variant dbSNP:rs121909634Ensembl. | 1 |
Hartsfield syndrome (HRTFDS)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070851 | 165 | L → S in HRTFDS. 1 PublicationCorresponds to variant dbSNP:rs397515481EnsemblClinVar. | 1 | |
Natural variantiVAR_070852 | 191 | L → S in HRTFDS. 1 PublicationCorresponds to variant dbSNP:rs869025669EnsemblClinVar. | 1 | |
Natural variantiVAR_070853 | 490 | G → R in HRTFDS. 1 PublicationCorresponds to variant dbSNP:rs869025670EnsemblClinVar. | 1 | |
Natural variantiVAR_070854 | 623 | D → Y in HRTFDS. 1 PublicationCorresponds to variant dbSNP:rs398122946EnsemblClinVar. | 1 | |
Natural variantiVAR_071460 | 627 | R → T in HRTFDS. 1 PublicationCorresponds to variant dbSNP:rs869025671EnsemblClinVar. | 1 | |
Natural variantiVAR_070855 | 628 | N → K in HRTFDS. 1 PublicationCorresponds to variant dbSNP:rs869025672EnsemblClinVar. | 1 | |
Natural variantiVAR_070856 | 725 | C → Y in HRTFDS. 1 PublicationCorresponds to variant dbSNP:rs398122945EnsemblClinVar. | 1 |
Trigonocephaly 1 (TRIGNO1)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030986 | 300 | I → T in TRIGNO1. 1 PublicationCorresponds to variant dbSNP:rs121909633EnsemblClinVar. | 1 |
Encephalocraniocutaneous lipomatosis (ECCL)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075853 | 546 | N → K in ECCL; somatic mutation; activating mutation; strongly increased speed of the first autophosphorylation and loss of the normal sequential order of autophosphorylation. 2 PublicationsCorresponds to variant dbSNP:rs779707422EnsemblClinVar. | 1 | |
Natural variantiVAR_075855 | 656 | K → E in ECCL; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs869320694EnsemblClinVar. | 1 |
Jackson-Weiss syndrome (JWS)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_004111 | 252 | P → R in PS and JWS. 2 PublicationsCorresponds to variant dbSNP:rs121909627EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 514 | K → A: Loss of kinase activity. 1 Publication | 1 | |
Mutagenesisi | 577 | R → E: Strongly reduced autophosphorylation in response to FGF signaling. No effect on in vitro kinase activity. 1 Publication | 1 | |
Mutagenesisi | 609 | R → V: Abolishes interaction with PLCG1. | 1 | |
Mutagenesisi | 623 | D → A: Loss of kinase activity. 1 Publication | 1 | |
Mutagenesisi | 653 | Y → F: No effect on kinase activity. Loss of autophosphorylation and kinase activity; when associated with F-654. 1 Publication | 1 | |
Mutagenesisi | 654 | Y → F: Reduced kinase activity. Loss of autophosphorylation and kinase activity; when associated with F-653. 1 Publication | 1 | |
Mutagenesisi | 755 | D → V: Abolishes interaction with PLCG1. | 1 | |
Mutagenesisi | 766 | Y → F: Abolishes interaction with PLCG1 and SHB. Decreases phosphorylation of FRS2, activation of RAS and MAP kinase signaling and stimulation of cell proliferation. 4 Publications | 1 |
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 428 – 429 | Breakpoint for translocation to form CEP43-FGFR1 or FGFR1-CEP43 fusion proteins1 Publication | 2 | |
Sitei | 428 – 429 | Breakpoint for translocation to form CNTRL-FGFR1 OR FGFR1-CNTRL fusion proteins1 Publication | 2 | |
Sitei | 428 – 429 | Breakpoint for translocation to form FGFR1OP2-FGFR13 Publications | 2 |
Keywords - Diseasei
Craniosynostosis, Disease mutation, Dwarfism, Holoprosencephaly, Hypogonadotropic hypogonadism, Kallmann syndrome, Mental retardationOrganism-specific databases
DisGeNETi | 2260 |
GeneReviewsi | FGFR1 |
MalaCardsi | FGFR1 |
MIMi | 101600, phenotype 123150, phenotype 147950, phenotype 166250, phenotype 190440, phenotype 613001, phenotype 615465, phenotype |
OpenTargetsi | ENSG00000077782 |
Orphaneti | 2396, Encephalocraniocutaneous lipomatosis 251579, Giant cell glioblastoma 251576, Gliosarcoma 2117, Hartsfield syndrome 3366, Isolated trigonocephaly 478, Kallmann syndrome 93924, Lobar holoprosencephaly 280200, Microform holoprosencephaly 168953, Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement 2227, NON RARE IN EUROPE: Hypodontia 432, Normosmic congenital hypogonadotropic hypogonadism 99798, Oligodontia 2645, Osteoglosphonic dysplasia 93258, Pfeiffer syndrome type 1 251615, Pilomyxoid astrocytoma 314950, Primary hypereosinophilic syndrome 220386, Semilobar holoprosencephaly 3157, Septo-optic dysplasia spectrum |
PharmGKBi | PA28127 |
Miscellaneous databases
Pharosi | P11362, Tclin |
Chemistry databases
ChEMBLi | CHEMBL3650 |
DrugBanki | DB07840, (E)-[4-(3,5-Difluorophenyl)-3H-pyrrolo[2,3-b]pyridin-3-ylidene](3-methoxyphenyl)methanol DB07525, 3-(3-methoxybenzyl)-1H-pyrrolo[2,3-b]pyridine DB08577, 3-[(3-(2-CARBOXYETHYL)-4-METHYLPYRROL-2-YL)METHYLENE]-2-INDOLINONE DB02058, 3-[4-(1-formylpiperazin-4-yl)-benzylidenyl]-2-indolinone DB12147, Erdafitinib DB12010, Fostamatinib DB01109, Heparin DB09078, Lenvatinib DB09079, Nintedanib DB00039, Palifermin DB15102, Pemigatinib DB08901, Ponatinib DB08896, Regorafenib DB15685, Selpercatinib DB00398, Sorafenib DB05014, XL999 |
DrugCentrali | P11362 |
GuidetoPHARMACOLOGYi | 1808 |
Polymorphism and mutation databases
BioMutai | FGFR1 |
DMDMi | 120046 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 21 | Add BLAST | 21 | |
ChainiPRO_0000016780 | 22 – 822 | Fibroblast growth factor receptor 1Add BLAST | 801 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 55 ↔ 101 | PROSITE-ProRule annotation | ||
Glycosylationi | 77 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 117 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 178 ↔ 230 | |||
Glycosylationi | 227 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 240 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 264 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 277 ↔ 341 | |||
Glycosylationi | 296 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 317 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 330 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 463 | Phosphotyrosine; by autocatalysis3 Publications | 1 | |
Modified residuei | 583 | Phosphotyrosine; by autocatalysis3 Publications | 1 | |
Modified residuei | 585 | Phosphotyrosine; by autocatalysis3 Publications | 1 | |
Modified residuei | 653 | Phosphotyrosine; by autocatalysis4 Publications | 1 | |
Modified residuei | 654 | Phosphotyrosine; by autocatalysis4 Publications | 1 | |
Modified residuei | 730 | Phosphotyrosine; by autocatalysis2 Publications | 1 | |
Modified residuei | 766 | Phosphotyrosine; by autocatalysis1 Publication | 1 |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, Glycoprotein, Phosphoprotein, Ubl conjugationProteomic databases
CPTACi | CPTAC-1773 CPTAC-1780 |
EPDi | P11362 |
jPOSTi | P11362 |
MassIVEi | P11362 |
MaxQBi | P11362 |
PaxDbi | P11362 |
PeptideAtlasi | P11362 |
PRIDEi | P11362 |
ProteomicsDBi | 52745 [P11362-1] 52746 [P11362-10] 52747 [P11362-11] 52748 [P11362-12] 52749 [P11362-13] 52750 [P11362-14] 52751 [P11362-15] 52752 [P11362-16] 52753 [P11362-17] 52754 [P11362-18] 52755 [P11362-19] 52756 [P11362-2] 52757 [P11362-20] 52758 [P11362-21] 52759 [P11362-3] 52760 [P11362-4] 52761 [P11362-5] 52762 [P11362-6] 52763 [P11362-7] 52764 [P11362-8] 52765 [P11362-9] |
PTM databases
CarbonylDBi | P11362 |
GlyConnecti | 1239, 9 N-Linked glycans (5 sites) |
GlyGeni | P11362, 11 sites, 2 N-linked glycans (2 sites) |
iPTMneti | P11362 |
PhosphoSitePlusi | P11362 |
SwissPalmi | P11362 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000077782, Expressed in body of pancreas and 251 other tissues |
ExpressionAtlasi | P11362, baseline and differential |
Genevisiblei | P11362, HS |
Organism-specific databases
HPAi | ENSG00000077782, Low tissue specificity |
Interactioni
Subunit structurei
Monomer. Homodimer after ligand binding.
Interacts predominantly with FGF1 and FGF2, but can also interact with FGF3, FGF4, FGF5, FGF6, FGF8, FGF10, FGF19, FGF21, FGF22 and FGF23 (in vitro) (PubMed:1697263, PubMed:1722683, PubMed:8663044, PubMed:9655399, PubMed:12181353, PubMed:16597617, PubMed:17623664). Ligand specificity is determined by tissue-specific expression of isoforms, and differences in the third Ig-like domain are crucial for ligand specificity. Affinity for fibroblast growth factors (FGFs) is increased by heparan sulfate glycosaminoglycans that function as coreceptors. Likewise, KLB increases the affinity for FGF19, FGF21 and FGF23 (PubMed:19966287).
Interacts (phosphorylated on Tyr-766) with PLCG1 (via SH2 domains) (PubMed:1656221, PubMed:1379697, PubMed:21765395).
Interacts with FRS2 (PubMed:21765395).
Interacts with RPS6KA1 (PubMed:15117958).
Interacts (via C-terminus) with NEDD4 (via WW3 domain) (PubMed:21765395).
Interacts with KL (By similarity).
Interacts with SHB (via SH2 domain) (PubMed:12181353).
Interacts with GRB10 (PubMed:10454568).
Interacts with ANOS1; this interaction does not interfere with FGF2-binding to FGFR1, but prevents binding of heparin-bound FGF2 (PubMed:19696444).
Interacts with SOX2 and SOX3.
Interacts with FLRT1, FLRT2 and FLRT3 (By similarity).
Found in a ternary complex with FGF1 and ITGAV:ITGB3 (PubMed:20422052, PubMed:18441324).
By similarity16 PublicationsBinary interactionsi
Hide detailsP11362
Isoform 14 [P11362-7]
With | #Exp. | IntAct |
---|---|---|
FGF2 [P09038] | 2 | EBI-15609945,EBI-977447 |
Kl [O35082] from Mus musculus. | 3 | EBI-15609945,EBI-1570828 |
Isoform 15 [P11362-14]
With | #Exp. | IntAct |
---|---|---|
FGF2 [P09038] | 2 | EBI-6622185,EBI-977447 |
GO - Molecular functioni
- fibroblast growth factor binding Source: UniProtKB
- identical protein binding Source: IntAct
- protein homodimerization activity Source: UniProtKB
- receptor-receptor interaction Source: ParkinsonsUK-UCL
- SH2 domain binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 108551, 195 interactors |
CORUMi | P11362 |
DIPi | DIP-4019N |
IntActi | P11362, 162 interactors |
MINTi | P11362 |
STRINGi | 9606.ENSP00000393312 |
Chemistry databases
BindingDBi | P11362 |
Miscellaneous databases
RNActi | P11362, protein |