QuickView for FGFR1 (gene)

Gene Symbol:

FGFR1 Homo sapiens

Full name:

fibroblast growth factor receptor 1

Synonyms:

BFGFR, CD331, CEK, ECCL, FGFBR, FGFR-1, FLG, FLT-2, FLT2, HBGFR, HH2, HRTFDS, KAL2, N-SAM, OGD, bFGF-R-1, fibroblast growth factor receptor 1, FGFR1/PLAG1 fusion, FMS-like tyrosine kinase 2, basic fibroblast growth factor receptor 1, fms-related tyrosine kinase 2, heparin-binding growth factor receptor, hydroxyaryl-protein kinase, proto-oncogene c-Fgr

Genomic Location:

Chr 8: 38387813-38445509

Description:

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...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

AACWWCAANK_UNKNOWN ,  TTANTCA_UNKNOWN ,  CATTGTYY_SOX9_B1 ,  GCANCTGNY_MYOD_Q6 ,  WGTTNNNNNAAA_UNKNOWN ,  OSF2_Q6 ,  GGGAGGRR_MAZ_Q6 ,  SOX9_B1 ,  CCTGTGA_MIR513 ,  ZID_01 ,  YGCANTGCR_UNKNOWN ,  GGGCGGR_SP1_Q6 ,  ACTAYRNNNCCCR_UNKNOWN ,  RACCACAR_AML_Q6 ,  OCT1_02 ,  AAAYRNCTG_UNKNOWN ,  CTGCAGY_UNKNOWN ,  TGCTTTG_MIR330 ,  TCCATTKW_UNKNOWN ,  WCAANNNYCAG_UNKNOWN ,  P300_01 ,  AACTTT_UNKNOWN ,  PAX4_03 ,  GGGTGGRR_PAX4_03

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-133 ,  Predicted Gene Targets for miR-330 ,  Predicted Gene Targets for miR-376

Cytogenetic Map:

8p11.23

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