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Aliases for FGFR1 Gene

Aliases for FGFR1 Gene

  • Fibroblast Growth Factor Receptor 1 2 3 3 5
  • Basic Fibroblast Growth Factor Receptor 1 3 4
  • Fms-Related Tyrosine Kinase 2 2 3
  • Proto-Oncogene C-Fgr 3 4
  • BFGF-R-1 3 4
  • FGFR-1 3 4
  • BFGFR 3 4
  • FGFBR 3 4
  • FLT-2 3 4
  • HBGFR 3 4
  • FLT2 3 4
  • CEK 3 4
  • FLG 3 4
  • Heparin-Binding Growth Factor Receptor 3
  • FMS-Like Tyrosine Kinase 2 3
  • Hydroxyaryl-Protein Kinase 3
  • Fms-Like Tyrosine Kinase 2 4
  • FGFR1/PLAG1 Fusion 3
  • Pfeiffer Syndrome 2
  • CD331 Antigen 4
  • EC 2.7.10.1 4
  • HRTFDS 3
  • CD331 3
  • N-SAM 3
  • N-Sam 4
  • ECCL 3
  • KAL2 3
  • HH2 3
  • OGD 3

External Ids for FGFR1 Gene

Previous HGNC Symbols for FGFR1 Gene

  • FLT2
  • KAL2

Previous GeneCards Identifiers for FGFR1 Gene

  • GC08M037810
  • GC08M038400
  • GC08M038011
  • GC08M038287
  • GC08M038389
  • GC08M038268
  • GC08M036802

Summaries for FGFR1 Gene

Entrez Gene Summary for FGFR1 Gene

  • 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, Jul 2008]

CIViC summary for FGFR1 Gene

  • FGFR1 is a member of the Fibroblast Growth Factor family, comprising of 4 receptors and 18 Ligands. FGFR1 signalling downstream functions mainly via PI3K and MAPK pathways (Turner et. al.). Several ways of involvement of FGFR1 in cancer have been proposed: auto- and paracrine activation, amplification and overexpression (Marshall et. al, Weiss et. al., Cheng et. al.). Especially amplification of FGFR1 in lung cancer is an emerging treatment target with clinical studies currently ongoing (e.g. NCT01004224). However, FGFR1 amplification does not always correlate with protein expression and predictive biomarkers still remain to be defined in clinic (von Mässenhausen et. al.). Mutation of FGFR1 seems to be less common, but has been described in glioblastoma, pilocytic astrocytomas and Ewing's sarcoma (Rand et. al., Jones et. al., Agelopoulos et. al.).

GeneCards Summary for FGFR1 Gene

FGFR1 (Fibroblast Growth Factor Receptor 1) is a Protein Coding gene. Diseases associated with FGFR1 include Pfeiffer Syndrome and Encephalocraniocutaneous Lipomatosis. Among its related pathways are ERK Signaling and Akt Signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is FGFR2.

UniProtKB/Swiss-Prot for FGFR1 Gene

  • 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.

Tocris Summary for FGFR1 Gene

  • Fibroblast growth factors (FGFs) are mitogenic signaling molecules that have roles in angiogenesis, wound healing, cell migration, neural outgrowth and embryonic development. FGF receptors (FGFRs) are transmembrane catalytic receptors with intracellular tyrosine kinase activity.

Gene Wiki entry for FGFR1 Gene

Additional gene information for FGFR1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGFR1 Gene

Genomics for FGFR1 Gene

GeneHancer (GH) Regulatory Elements for FGFR1 Gene

Promoters and enhancers for FGFR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J038464 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 670.2 +2.0 2033 4.9 FOXA2 ARID4B SIN3A FEZF1 ZNF2 ZNF213 ZNF143 FOS KLF13 SP3 FGFR1 RPS20P22
GH08J038457 Promoter/Enhancer 0.7 EPDnew dbSUPER 650.4 +11.3 11281 0.1 FGFR1 RPS20P22
GH08J037889 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18.9 +570.9 570927 17.5 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 SP3 ZC3H11A RAB11FIP1 ADGRA2 NSD3 ENSG00000255201 ERLIN2 DDHD2 FGFR1 LOC728024 LETM2 ASH2L
GH08J038764 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 28.9 -299.6 -299562 7.5 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A YBX1 ZNF2 IRF4 YY1 ENSG00000255201 DDHD2 ADGRA2 NSD3 TACC1 FGFR1 TM2D2 LETM2 EIF4EBP1 ADAM5
GH08J037693 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 20.2 +771.3 771264 7.9 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF213 ZNF703 ERLIN2 ADGRA2 DDHD2 ENSG00000255201 LOC728024 NSD3 FGFR1 RPS20P22 ENSG00000254306
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FGFR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FGFR1 gene promoter:
  • deltaCREB
  • CREB

Genomic Locations for FGFR1 Gene

Genomic Locations for FGFR1 Gene
chr8:38,411,138-38,468,834
(GRCh38/hg38)
Size:
57,697 bases
Orientation:
Minus strand
chr8:38,268,656-38,326,352
(GRCh37/hg19)
Size:
57,697 bases
Orientation:
Minus strand

Genomic View for FGFR1 Gene

Genes around FGFR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGFR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGFR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGFR1 Gene

Proteins for FGFR1 Gene

  • Protein details for FGFR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11362-FGFR1_HUMAN
    Recommended name:
    Fibroblast growth factor receptor 1
    Protein Accession:
    P11362
    Secondary Accessions:
    • A8K6T9
    • A8K8V5
    • C1KBH8
    • P17049
    • Q02063
    • Q02065
    • Q14306
    • Q14307
    • Q53H63
    • Q59H40
    • Q5BJG2
    • Q8N685
    • Q9UD50
    • Q9UDF0
    • Q9UDF1
    • Q9UDF2

    Protein attributes for FGFR1 Gene

    Size:
    822 amino acids
    Molecular mass:
    91868 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=BAD92156.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FGFR1 Gene

neXtProt entry for FGFR1 Gene

Post-translational modifications for FGFR1 Gene

  • Autophosphorylated. Binding of FGF family members together with heparan sulfate proteoglycan or heparin promotes receptor dimerization and autophosphorylation on tyrosine residues. Autophosphorylation occurs in trans between the two FGFR molecules present in the dimer and proceeds in a highly ordered manner. Initial autophosphorylation at Tyr-653 increases the kinase activity by a factor of 50 to 100. After this, Tyr-583 becomes phosphorylated, followed by phosphorylation of Tyr-463, Tyr-766, Tyr-583 and Tyr-585. In a third stage, Tyr-654 is autophosphorylated, resulting in a further tenfold increase of kinase activity. Phosphotyrosine residues provide docking sites for interacting proteins and so are crucial for FGFR1 function and its regulation.
  • Ubiquitinated. FGFR1 is rapidly ubiquitinated by NEDD4 after autophosphorylation, leading to internalization and lysosomal degradation. CBL is recruited to activated FGFR1 via FRS2 and GRB2, and mediates ubiquitination and subsequent degradation of FGFR1.
  • N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form in the Golgi apparatus.
  • Glycosylation at Asn330, Asn317, Asn296, Asn264, Asn240, isoforms=5, 12, 6, 13, 7, 14, 16, 18, 19, 8, 20, 21, 2, 9, 3, 10, 4, 11227, Asn117, and Asn77
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for FGFR1 Gene

Domains & Families for FGFR1 Gene

Gene Families for FGFR1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P11362

UniProtKB/Swiss-Prot:

FGFR1_HUMAN :
  • The second and third Ig-like domains directly interact with fibroblast growth factors (FGF) and heparan sulfate proteoglycans. Isoforms lacking the first Ig-like domain have higher affinity for fibroblast growth factors (FGF) and heparan sulfate proteoglycans than isoforms with all three Ig-like domains.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily.
Domain:
  • The second and third Ig-like domains directly interact with fibroblast growth factors (FGF) and heparan sulfate proteoglycans. Isoforms lacking the first Ig-like domain have higher affinity for fibroblast growth factors (FGF) and heparan sulfate proteoglycans than isoforms with all three Ig-like domains.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily.
genes like me logo Genes that share domains with FGFR1: view

Function for FGFR1 Gene

Molecular function for FGFR1 Gene

UniProtKB/Swiss-Prot Function:
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.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Present in an inactive conformation in the absence of bound ligand. Ligand binding leads to dimerization and activation by sequential autophosphorylation on tyrosine residues. Inhibited by ARQ 069; this compound maintains the kinase in an inactive conformation and inhibits autophosphorylation. Inhibited by PD173074.
GENATLAS Biochemistry:
fibroblast growth factor receptor 1 (flg/fms related gene),overexpressed in breast carcinomas?involved in limb induction

Enzyme Numbers (IUBMB) for FGFR1 Gene

Phenotypes From GWAS Catalog for FGFR1 Gene

Gene Ontology (GO) - Molecular Function for FGFR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004709 MAP kinase kinase kinase activity IBA --
GO:0004713 protein tyrosine kinase activity TAS --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IBA,IEA --
genes like me logo Genes that share ontologies with FGFR1: view
genes like me logo Genes that share phenotypes with FGFR1: view

Human Phenotype Ontology for FGFR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FGFR1 Gene

MGI Knock Outs for FGFR1:

Animal Model Products

CRISPR Products

miRNA for FGFR1 Gene

miRTarBase miRNAs that target FGFR1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGFR1

Clone Products

  • Addgene plasmids for FGFR1

No data available for Transcription Factor Targets and HOMER Transcription for FGFR1 Gene

Localization for FGFR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGFR1 Gene

Cell membrane; Single-pass type I membrane protein. Nucleus. Cytoplasm, cytosol. Cytoplasmic vesicle. 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FGFR1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FGFR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 1652059
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IBA,IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with FGFR1: view

Pathways & Interactions for FGFR1 Gene

SuperPathways for FGFR1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 GPCR Pathway
4 PI3K/AKT activation
5 Negative regulation of FGFR1 signaling
genes like me logo Genes that share pathways with FGFR1: view

SIGNOR curated interactions for FGFR1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FGFR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0000165 MAPK cascade TAS --
GO:0001501 skeletal system development TAS 7874169
GO:0001525 angiogenesis IEA --
GO:0001657 ureteric bud development IEA --
genes like me logo Genes that share ontologies with FGFR1: view

Drugs & Compounds for FGFR1 Gene

(134) Drugs for FGFR1 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Heparin Approved, Investigational Pharma Antagonist, Target 905
Lenvatinib Approved, Investigational Pharma inhibitor, Target Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 68
Nintedanib Approved Pharma inhibitor, Target VEGFR, FGFR, PDGFR, and FLT3 inhibitor, Kinase Inhibitors 126
Palifermin Approved Pharma binder, Target 0
Ponatinib Approved, Investigational Pharma inhibitor, Target Kinase Inhibitors, Fibroblast growth factor receptor (FGFR)inhibitors 36

(28) Additional Compounds for FGFR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) Tocris Compounds for FGFR1 Gene

Compound Action Cas Number
PD 161570 Selective FGFR inhibitor 192705-80-9
PD 173074 FGFR1 and -3 inhibitor 219580-11-7
SU 5402 Potent FGFR and VEGFR inhibitor 215543-92-3
genes like me logo Genes that share compounds with FGFR1: view

Transcripts for FGFR1 Gene

Unigene Clusters for FGFR1 Gene

Fibroblast growth factor receptor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGFR1

Clone Products

  • Addgene plasmids for FGFR1