STK36
Function
Serine/threonine protein kinase which plays an important role in the sonic hedgehog (Shh) pathway by regulating the activity of GLI transcription factors (PubMed:10806483). Controls the activity of the transcriptional regulators GLI1, GLI2 and GLI3 by opposing the effect of SUFU and promoting their nuclear localization (PubMed:10806483). GLI2 requires an additional function of STK36 to become transcriptionally active, but the enzyme does not need to possess an active kinase catalytic site for this to occur (PubMed:10806483). Required for postnatal development, possibly by regulating the homeostasis of cerebral spinal fluid or ciliary function. Essential for construction of the central pair apparatus of motile cilia.
Involvement in disease
Ciliary dyskinesia, primary, 46
CILD46
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD46 is an autosomal recessive form. No situs abnormalities have been observed.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Tissue Specificity
Expressed at low levels in most fetal tissues, adult ovaries and at high levels in adult testis, where it is localized in germ cells (PubMed:10806483). Expressed in respiratory epithelial cells of the lung (PubMed:28543983).
Cellular localization
- Cytoplasm
- Nucleus
- Cytoplasm
- Cytoskeleton
- Cilium axoneme
- Low levels also present in the nucleus.
Alternative names
KIAA1278, STK36, Serine/threonine-protein kinase 36, Fused homolog