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myosin heavy chain 11; myosin-11; myosin heavy chain, smooth muscle isoform; SMMHC (MYH11, KIAA0866)

Function: - muscle contraction - myosin heavy chain Structure: - myosin is a hexameric protein that consists of a) 2 myosin heavy chain subunits b) 2 myosin essential light chain subunits c) 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: - melanosome - smooth muscle 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

Related

myosin

General

myosin heavy chain

Properties

CONFIGURATION: dimer SIZE: entity length = 1972 aa MW = 227 kD MOTIF: Myosin head-like {1-785} MOTIF: ATP-binding site NAME: ATP-binding site SITE: 178-185 binding site SITE: 661-683 FOR-BINDING-OF: actin binding site SITE: 762-776 FOR-BINDING-OF: actin IQ motif {786-815} coiled coil {844-1934} Carboxyl-terminal {1935-1972} MOTIF: Ser phosphorylation site {S1954}

Database Correlations

OMIM correlations UniProt P35749 PFAM correlations Entrez Gene 4629

References

  1. UniProt :accession P35749
  2. Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/MYH11ID43.html
  3. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=MYH11