PKDCC
Function
Secreted tyrosine-protein kinase that mediates phosphorylation of extracellular proteins and endogenous proteins in the secretory pathway, which is essential for patterning at organogenesis stages. Mediates phosphorylation of MMP1, MMP13, MMP14, MMP19 and ERP29 (PubMed:25171405). Probably plays a role in platelets: rapidly and quantitatively secreted from platelets in response to stimulation of platelet degranulation (PubMed:25171405). May also have serine/threonine protein kinase activity. Required for longitudinal bone growth through regulation of chondrocyte differentiation. May be indirectly involved in protein transport from the Golgi apparatus to the plasma membrane (By similarity).
Involvement in disease
Rhizomelic limb shortening with dysmorphic features
RLSDF
An autosomal recessive skeletal dysplasia characterized by rhizomelic shortening of limbs as well as variable dysmorphic features, including macrocephaly, short neck, micrognathia, mild proptosis, downslanting palpebral fissures, depressed or broad nasal bridge and long philtrum.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-glycosylated.
Phosphorylated on tyrosines; probably via autophosphorylation.
Sequence Similarities
Belongs to the protein kinase superfamily.
Tissue Specificity
Highly expressed in platelets.
Cellular localization
- Secreted
- Golgi apparatus
Alternative names
SGK493, VLK, PKDCC, Extracellular tyrosine-protein kinase PKDCC, Protein kinase-like protein SgK493, Sugen kinase 493, Vertebrate lonesome kinase