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myosin heavy chain 7; myosin-7; myosin heavy chain beta, cardiac muscle isoform; MyHC-beta; myosin heavy chain slow isoform; MyHC-slow (MYH7, MYHCB)
Function:
- muscle contraction
- myosin heavy chain
Structure:
- muscle 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:
- cytoplasm, myofibril
- thick filaments of the myofibrils
Expression: found in cardiac muscle
Pathology:
- defects in MYH7 are the cause of
a) familial hypertrophic cardiomyopathy type 1
b) myosin storage myopathy
c) scapuloperoneal myopathy
d) cardiomyopathy dilated type 1S
e) Laing early-onset distal myopathy
f) restrictive cardiomyopathy [3]
Note:
- the cardiac alpha isoform is a 'fast' ATPase myosin, while the beta isoform is a 'slow' ATPase; MYH7 is a beta isoform
Related
myosin
General
myosin heavy chain
Properties
CONFIGURATION: dimer
SIZE: entity length = 1935 aa
MW = 223 kD
COMPARTMENT: cytoplasm
MOTIF: Myosin head-like {1-780}
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 178-185
binding site
SITE: 655-677
FOR-BINDING-OF: actin
binding site
SITE: 757-771
FOR-BINDING-OF: actin
IQ motif {781-810}
coiled coil {839-1935}
MOTIF: Ser phosphorylation site {S1037}
Database Correlations
OMIM correlations
MORBIDMAP 160760
UniProt P12883
PFAM correlations
Entrez Gene 4625
Kegg hsa:4625
References
- UniProt :accession P12883
- Familial hypertrophic cardiomyopathy mutation database
http://www.angis.org.au/Databases/heart/heartbreak.html
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=MYH7
- Medical Knowledge Self Assessment Program (MKSAP) 16
American College of Physicians, Philadelphia 2012