MYLK2
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Myosin light chain kinase 2 also known as MYLK2 is an enzyme which in humans is encoded by the MYLK2 gene.{{cite journal | vauthors = Davis JS, Hassanzadeh S, Winitsky S, Lin H, Satorius C, Vemuri R, Aletras AH, Wen H, Epstein ND | title = The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation | journal = Cell | volume = 107 | issue = 5 | pages = 631–41 |date=November 2001 | pmid = 11733062 | doi = 10.1016/S0092-8674(01)00586-4 | s2cid = 778253 | doi-access = free }}
Function
This gene encodes a myosin light chain kinase, a calcium / calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle.{{cite web | title = Entrez Gene: MYLK2 myosin light chain kinase 2, skeletal muscle | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=85366 }} The MYLK2 gene expresses skMLCK more prevalently in fast twitch muscle fibers as compared to slow twitch muscle fibers. Calmodulin is composed of two terminal domains (N,C) each containing two E-F hand motifs that bind to Ca2+. Upon saturation of Ca2+, Calmodulin undergoes a conformation change allowing it to bind with a target protein such as skMLCK. An image depicting a similar complex (sdCen/skMLCK2) is shown under myosin light chain kinase. This binding to skMLCK increases the affinity of Ca2+ and ultimately leads to a sustained muscle action.{{cite journal |vauthors=Stull JT, Kamm KE, Vandenboom R |title=Myosin light chain kinase and the role of myosin light chain phosphorylation in skeletal muscle |journal=Arch Biochem Biophys |volume= 510|issue= 2|pages= 120–8|date=February 2011 |pmid=21284933 |doi=10.1016/j.abb.2011.01.017 |pmc=3101293}}
Clinical significance
Mutations in the MYLK2 gene have been linked to midventricular hypertrophic cardiomyopathy.
References
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Further reading
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- {{cite journal |vauthors=Jeronimo C, Forget D, Bouchard A |title=Systematic analysis of the protein interaction network for the human transcription machinery reveals the identity of the 7SK capping enzyme. |journal=Mol. Cell |volume=27 |issue= 2 |pages= 262–74 |year= 2007 |pmid= 17643375 |doi= 10.1016/j.molcel.2007.06.027 |pmc=4498903}}
- {{cite journal |vauthors=Junker JP, Rief M |title=Single-molecule force spectroscopy distinguishes target binding modes of calmodulin. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=106 |issue= 34 |pages= 14361–6 |year= 2009 |pmid= 19667195 |doi= 10.1073/pnas.0904654106 |pmc=2732892 |bibcode=2009PNAS..10614361J |doi-access=free }}
- {{cite journal |vauthors=Roush CL, Kennelly PJ, Glaccum MB |title=Isolation of the cDNA encoding rat skeletal muscle myosin light chain kinase. Sequence and tissue distribution. |journal=J. Biol. Chem. |volume=263 |issue= 21 |pages= 10510–6 |year= 1988 |doi=10.1016/S0021-9258(19)81545-4 |pmid= 2839493 |doi-access=free }}
- {{cite journal |vauthors=Christie JD, Ma SF, Aplenc R |title=Variation in the myosin light chain kinase gene is associated with development of acute lung injury after major trauma. |journal=Crit. Care Med. |volume=36 |issue= 10 |pages= 2794–800 |year= 2008 |pmid= 18828194 |doi=10.1097/CCM.0b013e318186b843 |s2cid=6567908 }}
- {{cite journal |vauthors=Lazar V, Garcia JG |title=A single human myosin light chain kinase gene (MLCK; MYLK). |journal=Genomics |volume=57 |issue= 2 |pages= 256–67 |year= 1999 |pmid= 10198165 |doi=10.1006/geno.1999.5774 |doi-access=free }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 |pmc=528928 }}
- {{cite journal |vauthors=Deloukas P, Matthews LH, Ashurst J |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2001|pmid= 11780052 |doi= 10.1038/414865a |bibcode=2001Natur.414..865D |doi-access=free }}}
- {{cite journal |vauthors=Soung YH, Lee JW, Kim SY |title=Mutational analysis of the kinase domain of MYLK2 gene in common human cancers. |journal=Pathol. Res. Pract. |volume=202 |issue= 3 |pages= 137–40 |year= 2006 |pmid= 16448786 |doi= 10.1016/j.prp.2005.12.003 }}
- {{cite journal |vauthors=Gallagher PJ, Herring BP, Stull JT |title=Myosin light chain kinases. |journal=J. Muscle Res. Cell. Motil. |volume=18 |issue= 1 |pages= 1–16 |year= 1997 |pmid= 9147985 |doi=10.1023/A:1018616814417 |s2cid=11975486 }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal |vauthors=Lanfranchi G, Muraro T, Caldara F|title=Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization. |journal=Genome Res. |volume=6 |issue= 1 |pages= 35–42 |year= 1996 |pmid= 8681137 |doi=10.1101/gr.6.1.35 |doi-access=free }}
- {{cite journal |vauthors=Toth-Zsamboki E, Oury C, Cornelissen H |title=P2X1-mediated ERK2 activation amplifies the collagen-induced platelet secretion by enhancing myosin light chain kinase activation. |journal=J. Biol. Chem. |volume=278 |issue= 47 |pages= 46661–7 |year= 2003 |pmid= 14500714 |doi= 10.1074/jbc.M308452200 |doi-access= free }}
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{{Serine/threonine-specific protein kinases}}{{Cytoskeletal proteins}}{{Enzymes}}
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