myosin heavy chain 11; myosin-11; myosin heavy chain, smooth muscle isoform; SMMHC (MYH11, KIAA0866)
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Function
Structure
- myosin is a hexameric protein that consists of
- 2 myosin heavy chain subunits
- 2 myosin essential light chain subunits
- 2 myosin regulatory light chain subunits
- each myosin heavy chain can be split into 1 light meromyosin & 1 heavy meromyosin; it can later be split further into 2 globular subfragments (S1) & 1 rod-shaped subfragment (S2)
- rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils
- contains 1 IQ domain
- contains 1 myosin head-like domain
Compartment
Expression
- expressed in the umbilical artery, bladder, esophagus & trachea
Pathology
- pericentric chromosomal inversion inv(16)(p13;q22) involving MYH11 is found in AML-M4 EO subtype; the inversion produces a fusion protein consisting of the 165 N-terminal residues of CBF-beta (PEPB2) & the tail region of MYH11
- defects in MYH11 are the cause of aortic aneurysm familial thoracic type 4
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P35749.html
- ↑ Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/MYH11ID43.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=MYH11