myosin heavy chain 3; myosin heavy chain, fast skeletal muscle, embryonic; muscle embryonic myosin heavy chain; SMHCE (MYH3)

Function

• muscle contraction
• myosin heavy chain

Structure

• muscle 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

• cytoplasm, myofibril
• thick filaments of the myofibrils

Expression

• found in embryonic skeletal muscle
• abundantly present in fetal skeletal muscle, buy not present or barely detectable in heart muscle & adult skeletal muscle

Pathology

• defects in MYH3 are the cause of
  • distal arthrogryposis type 2A
  • distal arthrogryposis type 2B

More general terms

• myosin heavy chain

Additional terms

• myosin

Database

• UniProt: http://www.uniprot.org/uniprot/P11055.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4621
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4621
• OMIM: https://mirror.omim.org/entry/160720
• OMIM: https://mirror.omim.org/entry/193700
• OMIM: https://mirror.omim.org/entry/601680