Gene: FGF1

Basic information

Tag Content
Uniprot ID P05230; B2R5T0; D3DQF2; P07502; Q16588;
Entrez ID 2246
Genbank protein ID AAA51673.1; BAG35227.1; AAH32697.1; AAB29057.2; AAS99352.1; AAA52638.1; EAW61881.1; EAW61885.1; CAA36206.1; AAB29058.1; AAA52446.1; EAW61882.1; AAA79245.1; CAA46661.1; AAA51672.1;
Genbank nucleotide ID NM_001257209.1; NM_001257205.1; NM_001144935.1; NM_001257208.1; NM_001144934.1; NM_001144892.2; NM_033136.3; NM_000800.4; NM_001257210.1; NM_001257207.1;
Ensembl protein ID ENSP00000479024; ENSP00000354231; ENSP00000338548; ENSP00000367285; ENSP00000480791; ENSP00000352329; ENSP00000396195; ENSP00000481868; ENSP00000404742; ENSP00000480980;
Ensembl nucleotide ID ENSG00000113578
Gene name Fibroblast growth factor 1
Gene symbol FGF1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type CPO,CL/P
Developmental stage
Data sources Manually collected
Reference 21462296; 24613087;
Functional description Plays an important role in the regulation of cell survival, cell division, angiogenesis, cell differentiation and cell migration. Functions as potent mitogen in vitro. Acts as a ligand for FGFR1 and integrins. Binds to FGFR1 in the presence of heparin leading to FGFR1 dimerization and activation via sequential autophosphorylation on tyrosine residues which act as docking sites for interacting proteins, leading to the activation of several signaling cascades. Binds to integrin ITGAV:ITGB3. Its binding to integrin, subsequent ternary complex formation with integrin and FGFR1, and the recruitment of PTPN11 to the complex are essential for FGF1 signaling. Induces the phosphorylation and activation of FGFR1, FRS2, MAPK3/ERK1, MAPK1/ERK2 and AKT1 (PubMed:18441324, PubMed:20422052). Can induce angiogenesis (PubMed:23469107).
Sequence
MAEGEITTFT ALTEKFNLPP GNYKKPKLLY CSNGGHFLRI LPDGTVDGTR DRSDQHIQLQ 60
LSAESVGEVY IKSTETGQYL AMDTDGLLYG SQTPNEECLF LERLEENHYN TYISKKHAEK 120
NWFVGLKKNG SCKRGPRTHY GQKAILFLPL PVSSD 155

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

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologFGF1281160P03968Bos taurusPredictionMore>>
1:1 orthologFGF1607724J9NTP4Canis lupus familiarisPredictionMore>>
1:1 orthologFGF1102188850A0A142I1Y1Capra hircusPredictionMore>>
1:1 orthologFGF1100033960F6WDN0Equus caballusPredictionMore>>
1:1 orthologFGF12246P05230CPO,CL/PHomo sapiensPublicationMore>>
1:1 orthologFgf114164P61148E14.5Mus musculusPredictionMore>>
1:1 orthologFGF1462158A0A2J8NIY5Pan troglodytesPredictionMore>>
1:1 orthologFGF1397497F1RM38Sus scrofaPredictionMore>>
1:1 orthologFGF1100328898B7NZB1Oryctolagus cuniculusPredictionMore>>
1:1 orthologFgf125317P61149Rattus norvegicusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
FGF1rs34010C>AT-ARMS-PCR24613087
FGF1rs34010G>T (decrease risk)Genotyping21462296

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:0005104 fibroblast growth factor receptor bindingIPI
GO:0005104 fibroblast growth factor receptor bindingIMP
GO:0005178 integrin bindingIDA
GO:0005515 protein bindingIPI
GO:0008083 growth factor activityIDA
GO:0008201 heparin bindingIMP
GO:0008201 heparin bindingIDA
GO:0030544 Hsp70 protein bindingIEA
GO:0044548 S100 protein bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0000165 MAPK cascadeTAS
GO:0000187 activation of MAPK activityIMP
GO:0001525 angiogenesisIEA
GO:0001759 organ inductionIEA
GO:0007165 signal transductionNAS
GO:0007275 multicellular organism developmentTAS
GO:0008284 positive regulation of cell population proliferationIGI
GO:0008284 positive regulation of cell population proliferationIMP
GO:0008543 fibroblast growth factor receptor signaling pathwayIPI
GO:0008543 fibroblast growth factor receptor signaling pathwayIGI
GO:0008543 fibroblast growth factor receptor signaling pathwayIMP
GO:0008543 fibroblast growth factor receptor signaling pathwayIDA
GO:0008543 fibroblast growth factor receptor signaling pathwayTAS
GO:0009653 anatomical structure morphogenesisTAS
GO:0010595 positive regulation of endothelial cell migrationIMP
GO:0030154 cell differentiationIEA
GO:0030324 lung developmentIEA
GO:0030335 positive regulation of cell migrationIMP
GO:0030335 positive regulation of cell migrationIDA
GO:0032148 activation of protein kinase B activityIMP
GO:0034605 cellular response to heatIDA
GO:0042060 wound healingIDA
GO:0043406 positive regulation of MAP kinase activityIDA
GO:0045542 positive regulation of cholesterol biosynthetic processIDA
GO:0045766 positive regulation of angiogenesisIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0051781 positive regulation of cell divisionIDA
GO:0051897 positive regulation of protein kinase B signalingTAS
GO:0060681 branch elongation involved in ureteric bud branchingIDA
GO:0072163 mesonephric epithelium developmentIDA
GO:1901509 regulation of endothelial tube morphogenesisIMP
GO:1902533 positive regulation of intracellular signal transductionIDA
GO:1903672 positive regulation of sprouting angiogenesisIMP
GO:2000347 positive regulation of hepatocyte proliferationIEA
GO:2000544 regulation of endothelial cell chemotaxis to fibroblast growth factorIDA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionIDA
GO:0005576 extracellular regionTAS
GO:0005615 extracellular spaceIDA
GO:0005654 nucleoplasmIDA
GO:0005730 nucleolusIEA
GO:0005829 cytosolIDA
GO:0005938 cell cortexIEA
GO:0031012 extracellular matrixIEA

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-1226099 Signaling by FGFR in diseaseIEA
R-HSA-1257604 PIP3 activates AKT signalingTAS
R-HSA-1280215 Cytokine Signaling in Immune systemTAS
R-HSA-162582 Signal TransductionTAS
R-HSA-1643685 DiseaseTAS
R-HSA-1643685 DiseaseIEA
R-HSA-168256 Immune SystemTAS
R-HSA-1839122 Signaling by activated point mutants of FGFR1TAS
R-HSA-1839124 FGFR1 mutant receptor activationTAS
R-HSA-1839126 FGFR2 mutant receptor activationTAS
R-HSA-1839126 FGFR2 mutant receptor activationIEA
R-HSA-1839130 Signaling by activated point mutants of FGFR3TAS
R-HSA-190236 Signaling by FGFRTAS
R-HSA-190239 FGFR3 ligand binding and activationTAS
R-HSA-190241 FGFR2 ligand binding and activationTAS
R-HSA-190242 FGFR1 ligand binding and activationTAS
R-HSA-190322 FGFR4 ligand binding and activationTAS
R-HSA-190370 FGFR1b ligand binding and activationTAS
R-HSA-190371 FGFR3b ligand binding and activationTAS
R-HSA-190372 FGFR3c ligand binding and activationTAS
R-HSA-190373 FGFR1c ligand binding and activationTAS
R-HSA-190375 FGFR2c ligand binding and activationTAS
R-HSA-190377 FGFR2b ligand binding and activationTAS
R-HSA-199418 Negative regulation of the PI3K/AKT networkTAS
R-HSA-2033514 FGFR3 mutant receptor activationTAS
R-HSA-2033519 Activated point mutants of FGFR2TAS
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-5654219 Phospholipase C-mediated cascade: FGFR1TAS
R-HSA-5654221 Phospholipase C-mediated cascade; FGFR2TAS
R-HSA-5654227 Phospholipase C-mediated cascade; FGFR3TAS
R-HSA-5654228 Phospholipase C-mediated cascade; FGFR4TAS
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-5654695 PI-3K cascade:FGFR2TAS
R-HSA-5654696 Downstream signaling of activated FGFR2TAS
R-HSA-5654699 SHC-mediated cascade:FGFR2TAS
R-HSA-5654700 FRS-mediated FGFR2 signalingTAS
R-HSA-5654704 SHC-mediated cascade:FGFR3TAS
R-HSA-5654706 FRS-mediated FGFR3 signalingTAS
R-HSA-5654708 Downstream signaling of activated FGFR3TAS
R-HSA-5654710 PI-3K cascade:FGFR3TAS
R-HSA-5654712 FRS-mediated FGFR4 signalingTAS
R-HSA-5654716 Downstream signaling of activated FGFR4TAS
R-HSA-5654719 SHC-mediated cascade:FGFR4TAS
R-HSA-5654720 PI-3K cascade:FGFR4TAS
R-HSA-5654726 Negative regulation of FGFR1 signalingTAS
R-HSA-5654727 Negative regulation of FGFR2 signalingTAS
R-HSA-5654732 Negative regulation of FGFR3 signalingTAS
R-HSA-5654733 Negative regulation of FGFR4 signalingTAS
R-HSA-5654736 Signaling by FGFR1TAS
R-HSA-5654738 Signaling by FGFR2TAS
R-HSA-5654741 Signaling by FGFR3TAS
R-HSA-5654743 Signaling by FGFR4TAS
R-HSA-5655253 Signaling by FGFR2 in diseaseTAS
R-HSA-5655253 Signaling by FGFR2 in diseaseIEA
R-HSA-5655302 Signaling by FGFR1 in diseaseTAS
R-HSA-5655332 Signaling by FGFR3 in diseaseTAS
R-HSA-5663202 Diseases of signal transductionTAS
R-HSA-5663202 Diseases of signal transductionIEA
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-8851708 Signaling by FGFR2 IIIa TMIEA
R-HSA-8853338 Signaling by FGFR3 point mutants in cancerTAS
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-0007 Acetylation
KW-0025 Alternative splicing
KW-0037 Angiogenesis
KW-0963 Cytoplasm
KW-0217 Developmental protein
KW-0221 Differentiation
KW-0903 Direct protein sequencing
KW-0339 Growth factor
KW-0358 Heparin-binding
KW-0497 Mitogen
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0964 Secreted

Interpro

InterPro ID InterPro Term
IPR028210 FGF1
IPR002209 Fibroblast_GF_fam
IPR008996 IL1/FGF

PROSITE

PROSITE ID PROSITE Term
PS00247 HBGF_FGF

Pfam

Pfam ID Pfam Term
PF00167 FGF

Protein-protein interaction

Protein-miRNA interaction