Homo sapiens Gene: FGFR1
Summary
InnateDB Gene IDBG-17796.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FGFR1
Gene Name fibroblast growth factor receptor 1
Synonyms bFGF-R-1; BFGFR; CD331; CEK; FGFBR; FGFR-1; FLG; FLT-2; FLT2; HBGFR; HH2; HRTFDS; KAL2; N-SAM; OGD;
Species Homo sapiens
Ensembl Gene ENSG00000077782
Encoded Proteins
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
fibroblast growth factor receptor 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:38411138-38468834
Strand Reverse strand
Band p11.23
Transcripts
ENST00000341462 ENSP00000340636
ENST00000326324 ENSP00000327229
ENST00000335922 ENSP00000337247
ENST00000356207 ENSP00000348537
ENST00000397113 ENSP00000380302
ENST00000397108 ENSP00000380297
ENST00000397103 ENSP00000380292
ENST00000397091 ENSP00000380280
ENST00000397090
ENST00000447712 ENSP00000400162
ENST00000425967 ENSP00000393312
ENST00000434187 ENSP00000392645
ENST00000413133 ENSP00000400708
ENST00000440174 ENSP00000398318
ENST00000487647 ENSP00000435254
ENST00000466021
ENST00000475621
ENST00000464163
ENST00000470826
ENST00000496296
ENST00000474970
ENST00000484370 ENSP00000433163
ENST00000496629
ENST00000480571
ENST00000533619
ENST00000527114
ENST00000527745
ENST00000524528
ENST00000530701
ENST00000526570
ENST00000531196 ENSP00000434800
ENST00000532791 ENSP00000432972
ENST00000526688
ENST00000527203
ENST00000533668 ENSP00000434869
ENST00000525001 ENSP00000434712
ENST00000532386
ENST00000526742 ENSP00000433569
ENST00000529552 ENSP00000435283
ENST00000530568 ENSP00000434473
ENST00000619564 ENSP00000484553
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 82 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 82 [view]
Protein-Protein 80 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0005007 fibroblast growth factor-activated receptor activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008201 heparin binding
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0017134 fibroblast growth factor binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000165 MAPK cascade
GO:0001501 skeletal system development
GO:0001525 angiogenesis
GO:0001657 ureteric bud development
GO:0001701 in utero embryonic development
GO:0001759 organ induction
GO:0001764 neuron migration
GO:0002053 positive regulation of mesenchymal cell proliferation
GO:0002062 chondrocyte differentiation
GO:0006351 transcription, DNA-templated
GO:0006468 protein phosphorylation
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0007411 axon guidance
GO:0007420 brain development
GO:0007435 salivary gland morphogenesis
GO:0007605 sensory perception of sound
GO:0008284 positive regulation of cell proliferation
GO:0008286 insulin receptor signaling pathway
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0010468 regulation of gene expression
GO:0010518 positive regulation of phospholipase activity
GO:0010629 negative regulation of gene expression
GO:0010863 positive regulation of phospholipase C activity
GO:0010976 positive regulation of neuron projection development
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling
GO:0016477 cell migration
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0021769 orbitofrontal cortex development
GO:0021847 ventricular zone neuroblast division
GO:0030324 lung development
GO:0030326 embryonic limb morphogenesis
GO:0030901 midbrain development
GO:0035607 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0042127 regulation of cell proliferation
GO:0042472 inner ear morphogenesis
GO:0042473 outer ear morphogenesis
GO:0042474 middle ear morphogenesis
GO:0043009 chordate embryonic development
GO:0043406 positive regulation of MAP kinase activity
GO:0043410 positive regulation of MAPK cascade
GO:0045087 innate immune response
GO:0045595 regulation of cell differentiation
GO:0045666 positive regulation of neuron differentiation
GO:0045787 positive regulation of cell cycle
GO:0046777 protein autophosphorylation
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0048015 phosphatidylinositol-mediated signaling
GO:0048339 paraxial mesoderm development
GO:0048378 regulation of lateral mesodermal cell fate specification
GO:0048469 cell maturation
GO:0048514 blood vessel morphogenesis
GO:0048699 generation of neurons
GO:0048705 skeletal system morphogenesis
GO:0048762 mesenchymal cell differentiation
GO:0060045 positive regulation of cardiac muscle cell proliferation
GO:0060117 auditory receptor cell development
GO:0060445 branching involved in salivary gland morphogenesis
GO:0060484 lung-associated mesenchyme development
GO:0060665 regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling
GO:0090080 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway
GO:2001239 regulation of extrinsic apoptotic signaling pathway in absence of ligand
Cellular Component
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016021 integral component of membrane
GO:0016023 cytoplasmic membrane-bounded vesicle
GO:0043235 receptor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Signaling by FGFR in disease pathway
Signaling by FGFR mutants pathway
Signaling by FGFR1 mutants pathway
Signaling by activated point mutants of FGFR1 pathway
Disease pathway
KEGG
MAPK signaling pathway pathway
Adherens junction pathway
Regulation of actin cytoskeleton pathway
Pathways in cancer pathway
Prostate cancer pathway
Melanoma pathway
INOH
IL-7 signaling pathway
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
FGF signaling pathway pathway
VEGF signaling pathway pathway
PID BIOCARTA
PID NCI
Glypican 1 network
FGF signaling pathway
Syndecan-4-mediated signaling events
N-cadherin signaling events
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.620780 Hs.690894
RefSeq NM_001174063 NM_001174064 NM_001174065 NM_001174066 NM_001174067 NM_015850 NM_023105 NM_023106 NM_023110
HUGO
OMIM
CCDS CCDS43730 CCDS43731 CCDS43732 CCDS55221 CCDS55222 CCDS55223 CCDS6107
HPRD 00634
IMGT
EMBL
GenPept
RNA Seq Atlas