FGFR1

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

References: PMID:36859276, PMID:18985070, PMID:36138264, PMID:20362962, PMID:20389085, PMID:23368665, PMID:15365636, PMID:26051373

Subcellular localization

cilia, cytosol, nucleus, basal body

References: PMID:41005307, PMID:30061390, PMID:19242413

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).