KIF14

kinesin family member 14

Ensembl:
ENSG00000118193
UniProt:
Q15058
OMIM:
611279
Synonyms:
KIAA0042

Cilia effects upon perturbation of KIF14

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

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.01) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
Meckel syndrome

Ciliopathy associations

  • Meckel-Gruber Syndrome

Subcellular localization

basal body, cilia, microtubules, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Metabolism
  • T cell biology
  • Protein processing & maturation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Regulator of chromosome segregation, cytokinesis and midbody formation. Regulator of cilia formation, basal body biogenesis and Hedgehog (HH) sig ling. Depletion of KIF14 specifically leads to defects in ciliogenesis and basal body biogenesis (32348467). Mutations in humans and zebrafish cause ciliopathy-like kidney and microcephaly phenotypes (30388224, 24128419). Not Reported Shorter cilia Reduced cilia numbers(PMID: 32348467).

Model organism evidence

Mus musculus (1 reference)

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

PMIDs: 24128419