FHDC1

FH2 domain containing 1

Ensembl:
ENSG00000137460
UniProt:
Q9C0D6
OMIM:
620268
Synonyms:
INF1, KIAA1727

Cilia effects upon perturbation of FHDC1

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia
Overexpression effect:
Longer cilia

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Cilia length regulation

Function

Coordi tion of cytoskeletal dy mics during normal cilia assembly. Interacts with CEP170 to regulare cilia elongation and inhibition of cilia assembly. Overexpression of FHDC1 induces F-actin accumulation, microtubule stabilization, blocks cilia assembly and induces cilia resorption .FHDC1 is essential for normal cilia assembly.Overexpression can elongate cilia (especially via MTBD), sometimes while reducing the number of ciliated cells.Loss-of-function reduces both cilia length and percentage of ciliated cells, and causes basal body/centrosome defects(29742020).