Positive regulator of mTOR signaling that functions by triggering the degradation of DEPTOR, an mTOR inhibitor. Involved in the dynamic regulation of mTOR signaling in chondrocyte differentiation during skeletogenesis (PubMed:30232230). Negatively regulates cAMP signaling pathway possibly by acting on CRTC2/TORC2 and CRTC3/TORC3 (Probable). Prevents HDAC4 translocation to the nucleus (By similarity).
Spondyloepimetaphyseal dysplasia, Krakow type
SEMDK
An autosomal recessive skeletal disorder characterized by severe spondyloepimetaphyseal dysplasia, rhizomelia, mesomelia with significant anterior bowing of all limbs, severe immunodeficiency, and developmental delay.
None
The disease is caused by variants affecting the gene represented in this entry.
Phosphorylated at Thr-221 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39 (PubMed:14976552). Phosphorylation at Thr-221 is inhibited in response to PTHLH/PTHrP (PubMed:30232230). Phosphorylated at Thr-469 and Ser-551 in response to cAMP signaling (Probable).
Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily.
Expressed in chondrocytes.
KIAA0999, QSK, L19, SIK3, Serine/threonine-protein kinase SIK3, Salt-inducible kinase 3, Serine/threonine-protein kinase QSK, SIK-3
Proteins
144851Da
We found 1 product in 1 category