Gene: FGFR1

Basic information

Tag Content
Uniprot ID P11362; A8K6T9; A8K8V5; C1KBH8; P17049; Q02063; Q02065; Q14306; Q14307; Q53H63; Q59H40; Q5BJG2; Q8N685; Q9UD50; Q9UDF0; Q9UDF1; Q9UDF2;
Entrez ID 2260
Genbank protein ID AAA35835.1; CAA40404.1; AAH91494.1; CAA68679.1; AAA35838.1; ACO38646.1; AAS79322.1; AAA35836.1; AAA35958.1; CAA40402.1; BAF84443.1; CAA40403.1; AAA35839.1; AAA35837.1; CAA36101.1; AAA75007.1; CAA40401.1; BAD96438.1; CAA37015.1; CAA47375.1; AAH15035.1; AAA35840.1; BAD92156.1; BAF85159.1; CAA40400.1; AAA35959.1; AAA35960.1; AAH18128.1;
Genbank nucleotide ID NM_015850.3; NM_001174065.1; NM_023110.2; NM_023105.2; NM_001174066.1; NM_001174067.1; NM_001174064.1; NM_001174063.1; NM_023106.2;
Ensembl protein ID ENSP00000380280; ENSP00000400162; ENSP00000393312; ENSP00000433163; ENSP00000380302; ENSP00000432972; ENSP00000380297; ENSP00000337247; ENSP00000348537; ENSP00000327229;
Ensembl nucleotide ID ENSG00000077782
Gene name Fibroblast growth factor receptor 1
Gene symbol FGFR1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type CL/P
Developmental stage
Data sources Manually collected
Reference 17366557; 28232668; 26199944;
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.
Sequence
MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD 60
VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD 120
ALPSSEDDDD DDDSSSEEKE TDNTKPNRMP 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 VGSVIVYKMK 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 MPLDQYSPSF 780
PDTRSSTCSS GEDSVFSHEP LPEEPCLPRH PAQLANGGLK 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.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologFGFR1281768A4IFL5Bos taurusPredictionMore>>
1:1 orthologFGFR1100856477A0A5F4CQJ1Canis lupus familiarisPredictionMore>>
1:1 orthologFGFR1A0A452E6I8Capra hircusPredictionMore>>
1:1 orthologFGFR12260P11362CL/PHomo sapiensPublicationMore>>
1:1 orthologFgfr114182P16092CPOE14.5, E16.5Mus musculusPublicationMore>>
1:1 orthologFGFR1A0A2I3RMA9Pan troglodytesPredictionMore>>
1:1 orthologFgfr1F1LM54Rattus norvegicusPredictionMore>>
1:1 orthologfgfr1bF1Q5T3Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
FGFR1rs13317A>GGWAS28232668
FGFR1c.1868A>G; p.Asp623Gly (heterozygous)Sanger sequencing31512363
FGFR1c.874C>G; p.His292Asp (heterozygous)Clinical exome sequencing and Sanger sequencing32871658
FGFR1c.358C>T; p.R120C (heterozygous)Next-Generation Sequencing; Sanger sequencing26199944
FGFR1c.776G>A; p.G259E (heterozygous)Next-Generation Sequencing; Sanger sequencing26199944
FGFR1rs7829058G>CGenotyping21462296
FGFR1rs674354C>TGenotyping21462296
FGFR1rs13317Genotyping17366557

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004713 protein tyrosine kinase activityIDA
GO:0004714 transmembrane receptor protein tyrosine kinase activityIBA
GO:0005007 fibroblast growth factor-activated receptor activityIDA
GO:0005007 fibroblast growth factor-activated receptor activityTAS
GO:0005007 fibroblast growth factor-activated receptor activityIBA
GO:0005515 protein bindingIPI
GO:0005524 ATP bindingIEA
GO:0008201 heparin bindingIDA
GO:0017134 fibroblast growth factor bindingIDA
GO:0017134 fibroblast growth factor bindingIBA
GO:0042169 SH2 domain bindingIEA
GO:0042802 identical protein bindingIPI
GO:0042803 protein homodimerization activityIPI
GO:0090722 receptor-receptor interactionIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIIEA
GO:0000165 MAPK cascadeTAS
GO:0001501 skeletal system developmentTAS
GO:0001525 angiogenesisIEA
GO:0001657 ureteric bud developmentIEA
GO:0001701 in utero embryonic developmentIEA
GO:0001759 organ inductionIEA
GO:0001764 neuron migrationTAS
GO:0002053 positive regulation of mesenchymal cell proliferationIEA
GO:0002062 chondrocyte differentiationIEA
GO:0006468 protein phosphorylationNAS
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathwayIBA
GO:0007275 multicellular organism developmentIBA
GO:0007605 sensory perception of soundIEA
GO:0008284 positive regulation of cell population proliferationIMP
GO:0008284 positive regulation of cell population proliferationIDA
GO:0008284 positive regulation of cell population proliferationIGI
GO:0008543 fibroblast growth factor receptor signaling pathwayIPI
GO:0008543 fibroblast growth factor receptor signaling pathwayTAS
GO:0008543 fibroblast growth factor receptor signaling pathwayIDA
GO:0008543 fibroblast growth factor receptor signaling pathwayIGI
GO:0010518 positive regulation of phospholipase activityTAS
GO:0010863 positive regulation of phospholipase C activityIDA
GO:0010966 regulation of phosphate transportIEA
GO:0010976 positive regulation of neuron projection developmentIEA
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signalingTAS
GO:0016477 cell migrationTAS
GO:0018108 peptidyl-tyrosine phosphorylationIDA
GO:0021847 ventricular zone neuroblast divisionIEA
GO:0030326 embryonic limb morphogenesisIEA
GO:0030901 midbrain developmentIEA
GO:0033674 positive regulation of kinase activityIBA
GO:0035607 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentIEA
GO:0042472 inner ear morphogenesisIEA
GO:0042473 outer ear morphogenesisIEA
GO:0042474 middle ear morphogenesisIEA
GO:0043009 chordate embryonic developmentTAS
GO:0043406 positive regulation of MAP kinase activityIDA
GO:0043410 positive regulation of MAPK cascadeIMP
GO:0043536 positive regulation of blood vessel endothelial cell migrationIGI
GO:0045595 regulation of cell differentiationTAS
GO:0045597 positive regulation of cell differentiationIBA
GO:0045666 positive regulation of neuron differentiationIMP
GO:0046777 protein autophosphorylationIDA
GO:0048015 phosphatidylinositol-mediated signalingTAS
GO:0048339 paraxial mesoderm developmentIEA
GO:0048378 regulation of lateral mesodermal cell fate specificationIEA
GO:0048469 cell maturationIEA
GO:0048705 skeletal system morphogenesisTAS
GO:0048762 mesenchymal cell differentiationIEA
GO:0051897 positive regulation of protein kinase B signalingTAS
GO:0060045 positive regulation of cardiac muscle cell proliferationIEA
GO:0060117 auditory receptor cell developmentIEA
GO:0060445 branching involved in salivary gland morphogenesisIEA
GO:0060484 lung-associated mesenchyme developmentIEA
GO:0060665 regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signalingIEA
GO:0070640 vitamin D3 metabolic processIEA
GO:0090080 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayIEA
GO:0090272 negative regulation of fibroblast growth factor productionIEA
GO:1903465 positive regulation of mitotic cell cycle DNA replicationIEA
GO:1905564 positive regulation of vascular endothelial cell proliferationIGI
GO:2000546 positive regulation of endothelial cell chemotaxis to fibroblast growth factorIDA
GO:2000830 positive regulation of parathyroid hormone secretionIEA
GO:2001239 regulation of extrinsic apoptotic signaling pathway in absence of ligandIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionNAS
GO:0005634 nucleusIEA
GO:0005829 cytosolIEA
GO:0005886 plasma membraneIDA
GO:0005886 plasma membraneTAS
GO:0005887 integral component of plasma membraneIBA
GO:0016021 integral component of membraneNAS
GO:0031410 cytoplasmic vesicleIEA
GO:0043235 receptor complexIBA
GO:0043235 receptor complexIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-109704 PI3K CascadeTAS
R-HSA-112399 IRS-mediated signallingTAS
R-HSA-1226099 Signaling by FGFR in diseaseTAS
R-HSA-1257604 PIP3 activates AKT signalingTAS
R-HSA-1266738 Developmental BiologyIEA
R-HSA-1266738 Developmental BiologyTAS
R-HSA-1280215 Cytokine Signaling in Immune systemTAS
R-HSA-162582 Signal TransductionTAS
R-HSA-1643685 DiseaseTAS
R-HSA-168256 Immune SystemTAS
R-HSA-1839120 Signaling by FGFR1 amplification mutantsTAS
R-HSA-1839122 Signaling by activated point mutants of FGFR1TAS
R-HSA-1839124 FGFR1 mutant receptor activationTAS
R-HSA-190236 Signaling by FGFRTAS
R-HSA-190242 FGFR1 ligand binding and activationTAS
R-HSA-190370 FGFR1b ligand binding and activationTAS
R-HSA-190373 FGFR1c ligand binding and activationTAS
R-HSA-190374 FGFR1c and Klotho ligand binding and activationTAS
R-HSA-199418 Negative regulation of the PI3K/AKT networkTAS
R-HSA-2219528 PI3K/AKT Signaling in CancerTAS
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in CancerTAS
R-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)TAS
R-HSA-2428924 IGF1R signaling cascadeTAS
R-HSA-2428928 IRS-related events triggered by IGF1RTAS
R-HSA-373760 L1CAM interactionsTAS
R-HSA-375165 NCAM signaling for neurite out-growthIEA
R-HSA-422475 Axon guidanceIEA
R-HSA-422475 Axon guidanceTAS
R-HSA-445144 Signal transduction by L1TAS
R-HSA-5654219 Phospholipase C-mediated cascade: FGFR1TAS
R-HSA-5654687 Downstream signaling of activated FGFR1TAS
R-HSA-5654688 SHC-mediated cascade:FGFR1TAS
R-HSA-5654689 PI-3K cascade:FGFR1TAS
R-HSA-5654693 FRS-mediated FGFR1 signalingTAS
R-HSA-5654726 Negative regulation of FGFR1 signalingTAS
R-HSA-5654736 Signaling by FGFR1TAS
R-HSA-5655302 Signaling by FGFR1 in diseaseTAS
R-HSA-5663202 Diseases of signal transductionTAS
R-HSA-5673001 RAF/MAP kinase cascadeTAS
R-HSA-5683057 MAPK family signaling cascadesTAS
R-HSA-5684996 MAPK1/MAPK3 signalingTAS
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT SignalingTAS
R-HSA-74751 Insulin receptor signalling cascadeTAS
R-HSA-74752 Signaling by Insulin receptorTAS
R-HSA-8853336 Signaling by plasma membrane FGFR1 fusionsTAS
R-HSA-9006925 Intracellular signaling by second messengersTAS
R-HSA-9006934 Signaling by Receptor Tyrosine KinasesTAS
R-HSA-9607240 FLT3 SignalingTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0025 Alternative splicing
KW-0067 ATP-binding
KW-1003 Cell membrane
KW-0160 Chromosomal rearrangement
KW-0989 Craniosynostosis
KW-0963 Cytoplasm
KW-0968 Cytoplasmic vesicle
KW-0903 Direct protein sequencing
KW-0225 Disease mutation
KW-1015 Disulfide bond
KW-0242 Dwarfism
KW-0325 Glycoprotein
KW-0358 Heparin-binding
KW-0370 Holoprosencephaly
KW-1016 Hypogonadotropic hypogonadism
KW-0393 Immunoglobulin domain
KW-0956 Kallmann syndrome
KW-0418 Kinase
KW-0472 Membrane
KW-0991 Mental retardation
KW-0547 Nucleotide-binding
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-0675 Receptor
KW-1185 Reference proteome
KW-0677 Repeat
KW-0732 Signal
KW-0804 Transcription
KW-0805 Transcription regulation
KW-0808 Transferase
KW-0812 Transmembrane
KW-1133 Transmembrane helix
KW-0829 Tyrosine-protein kinase
KW-0832 Ubl conjugation

Interpro

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

PROSITE

PROSITE ID PROSITE Term
PS50835 IG_LIKE
PS00107 PROTEIN_KINASE_ATP
PS50011 PROTEIN_KINASE_DOM
PS00109 PROTEIN_KINASE_TYR

Pfam

Pfam ID Pfam Term
PF18123 FGFR3_TM
PF07679 I-set
PF00047 ig
PF07714 Pkinase_Tyr

Protein-protein interaction

Protein-miRNA interaction