FGFR1
fibroblast growth factor receptor 1
- Ensembl:
- ENSG00000077782
- UniProt:
- P11362
- OMIM:
- 136350
- Synonyms:
- BFGFR, CD331, CEK, FLG, FLT2
Cilia effects upon perturbation of FGFR1
- Cilia number / % ciliated:
- No effect
- Loss-of-function effect:
- Shorter cilia
- Overexpression effect:
- No effect
Ciliogenesis screen results (4 screens)
- Kim2016: Not Reported
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.17) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Mouse phenotype:
- embryonic lethality prior to tooth bud stage, embryonic growth retardation, abnormal embryo size, preweaning lethality, complete penetrance, increased respiratory quotient
- Human ciliopathy phenotype:
- hypogonadotropic hypogonadism 2 with or without anosmia; hypogonadotropic hypogonadism; renal cell carcinoma
Ciliopathy associations
- Kallmann Syndrome
Subcellular localization
cilia, cytosol, nucleus
Functional category
- Ciliary assembly/disassembly
- Protein processing & maturation
- Cell migration & adhesion
- Signaling (Hedgehog, GPCRs, ion channels)
- Cardiac & muscle development
- ECM & connective tissue
- Cilia length regulation
Function
FGFR1 localized to the nodal cilia of mice and kinocilia, where it participated in establishment of the left-right axis and FGFR1 was colocalized with FGFR2 and 3(30061390 , 15889083).FGFR1 positively regulates cilia length in multiple tissues (KV, pronephric ducts, otic vesicle) and across vertebrates (zebrafish, Xenopus)(PMID: 19242413).
Model organism evidence
Mus musculus (2 references)
We show that FGFR1 and FGFR2, but not FGFR3 and FGFR4, localize to primary cilia of the developing mouse tissues and in vitro cells.
(#)Contributed equally The motile cilia of ependymal cells coordinate their beats to facilitate a forceful and directed flow of cerebrospinal fluid (CSF).