KMT5B

Cilia effects upon perturbation of KMT5B

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (1 screen)

• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

abnormal tail movements, process of degenerative change, decreased body weight, lipid deposition, preweaning lethality, incomplete penetrance, increased thermal nociceptive threshold, increased circulating chloride level

Human ciliopathy phenotype:

intellectual disability, autosomal dominant 51

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly
• T cell biology

Function

KMT5B has localized in cilia. Knocking down KMT5B resulted in fewer and shorter cilia and impaired the formation of multiciliated cell tufts, indicating that the catalytic activity of KMT5B is required for proper ciliogenesis. (https://doi.org/10.1101/2025.03.18.644017) MCC precursor cells … ultimately fail in ciliogenesis because of perturbation of cytoplasmic processes (GeneTools)

Model organism evidence