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    MYLK

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    For Research Use Only. Not For Clinical Use.


    This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts.
    Protein class

    Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets

    Predicted location

    Intracellular, Membrane (different isoforms)

    Single cell type specificity

    Cell type enhanced (Breast myoepithelial cells, Peritubular cells, Smooth muscle cells, Sertoli cells, Hepatocytes)

    Immune cell specificity

    Immune cell enhanced (basophil)

    Cell line specificity

    Cell line enhanced (BJ, BJ hTERT+, fHDF/TERT166, hTERT-RPE1, RPTEC TERT1)

    Interaction

    All isoforms including Telokin bind calmodulin. Interacts with SVIL (By similarity). Interacts with CTTN; this interaction is reduced during thrombin-induced endothelial cell (EC) contraction but is promoted by the barrier-protective agonist sphingosine 1-phosphate (S1P) within lamellipodia. A complex made of ABL1, CTTN and MYLK regulates cortical actin-based cytoskeletal rearrangement critical to sphingosine 1-phosphate (S1P)-mediated endothelial cell (EC) barrier enhancement. Binds to NAA10/ARD1 and PTK2B/PYK2.

    Molecular function

    Actin-binding, Calmodulin-binding, Kinase, Serine/threonine-protein kinase, Transferase

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