SMYD3

SET and MYND domain containing 3

Ensembl:
ENSG00000171661
UniProt:
Q9H7B4
OMIM:
608149
Synonyms:
KMT3E

Cilia effects upon perturbation of SMYD3

Cilia number / % ciliated:
Decrease
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.47) 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:
abnormal bone formation, impaired fertility
Mouse ciliopathy phenotype:
Not Reported

Subcellular localization

basal body, centrosome, cilia associated gene, distal appendage

Functional category

  • Ciliary assembly/disassembly
  • Transcription regulation
  • Centrosome

Function

A histone/lysine methyltransferase that drives ciliogenesis. It is a novel component of the distal appendage required for its assembly. It modulates recruitment of centrosome proteins (Cep164, Ttbk2) and trafficking of IFT proteins (Ift54, Ift140)(38892227). SMYD3 loss decreases % ciliated cells and causes stumpy cilia. Component of distal appendage. Regulates CEP164, FBF1, NINEIN, TTBK2, CP110, IFT54, IFT140 and transcribes cilia genes C2CD3, CEP164, TTBK2, DYNC2H1, CP110.