Fibroblast growth factor receptor 1

Fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
PDB rendering based on 1agw.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1agw​, 1cvs​, 1evt​, 1fgi​, 1fgk​, 1fq9​, 2ckn​, 2cr3​, 2fgi​
Identifiers
Symbols	FGFR1 ; BFGFR; CD331; CEK; FGFBR; FLG; FLT2; HBGFR; KAL2; N-SAM
External IDs	Template:OMIM5 Template:MGI HomoloGene: 69065
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome), also known as FGFR1, is a fibroblast growth factor receptor associated with Pfeiffer syndrome.

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.

See also

• Cluster of differentiation

Further reading

• Johnson DE, Williams LT (1993). "Structural and functional diversity in the FGF receptor multigene family". Adv. Cancer Res. 60: 1–41. PMID 8417497.
• Macdonald D, Reiter A, Cross NC (2002). "The 8p11 myeloproliferative syndrome: a distinct clinical entity caused by constitutive activation of FGFR1". Acta Haematol. 107 (2): 101–7. PMID 11919391.CS1 maint: Multiple names: authors list (link)
• Groth C, Lardelli M (2003). "The structure and function of vertebrate fibroblast growth factor receptor 1". Int. J. Dev. Biol. 46 (4): 393–400. PMID 12141425.
• Wilkie AO (2005). "Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations". Cytokine Growth Factor Rev. 16 (2): 187–203. doi:10.1016/j.cytogfr.2005.03.001. PMID 15863034.

External links

• FGFR1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.