Tclin FGFR1 Fibroblast growth factor receptor 1

Protein Summary

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. 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]

Uniprot Accession IDs

• P11362
• A8K6T9
• A8K8V5
• C1KBH8
• P17049
• Q02063
• Q02065
• Q14306
• Q14307
• Q53H63
• Q59H40
• Q5BJG2
• Q8N685
• Q9UD50
• Q9UDF0
• Q9UDF1
• Q9UDF2
• FGFR-1

Gene Name

• FGFR1

Ensembl ID

• ENST00000326324
• ENSP00000327229
• ENSG00000077782
• ENST00000335922
• ENSP00000337247
• ENST00000356207
• ENSP00000348537
• ENST00000397091
• ENSP00000380280
• ENST00000397108
• ENSP00000380297
• ENST00000397113
• ENSP00000380302
• ENST00000425967
• ENSP00000393312
• ENST00000447712
• ENSP00000400162
• ENST00000484370
• ENSP00000433163
• ENST00000532791
• ENSP00000432972

Symbol

• BFGFR
• CEK
• FGFBR
• FLG
• FLT2
• HBGFR
• CEK
• FLG
• HH2
• OGD
• ECCL
• FLT2
• KAL2
• BFGFR
• CD331
• FGFBR
• FLT-2
• HBGFR
• N-SAM
• FGFR-1
• HRTFDS
• bFGF-R-1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	1
molecular function	1
protein domain	1
kinase	0.96
transcription factor perturbation	0.96

Protein Classes

DTO Classes

Protein / Kinase / Protein Kinase / Tk Group / Fgfr Family / Fibroblast Growth Factor Receptor 1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1978.29   (req: < 5)

Gene RIFs: 534   (req: <= 3)

Antibodies: 2216   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1978.29   (req: >= 5)

Gene RIFs: 534   (req: > 3)

Antibodies: 2216   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 72

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 1228

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drugs: 11