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  Domain Name: MYSc_type_XVIII
Myosin motor domain, type XVIII myosins. This catalytic (head) domain has ATPase activity and belongs to the larger group of P-loop NTPases. Myosins are actin-dependent molecular motors that play important roles in muscle contraction, cell motility, and organelle transport. The head domain is a molecular motor, which utilizes ATP hydrolysis to generate directed movement toward the plus end along actin filaments. A cyclical interaction between myosin and actin provides the driving force. Rates of ATP hydrolysis and consequently the speed of movement along actin filaments vary widely, from about 0.04 micrometer per second for myosin I to 4.5 micrometer per second for myosin II in skeletal muscle. Myosin II moves in discrete steps about 5-10 nm long and generates 1-5 piconewtons of force. Upon ATP binding, the myosin head dissociates from an actin filament. ATP hydrolysis causes the head to pivot and associate with a new actin subunit. The release of Pi causes the head to pivot and move the filament (power stroke). Release of ADP completes the cycle.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 176
Total Disease Mutations Found: 85
This domain occurred 36 times on human genes (62 proteins).



  AORTIC ANEURYSM, FAMILIAL THORACIC 4
  ARTHROGRYPOSIS, DISTAL, TYPE 2A
  ARTHROGRYPOSIS, DISTAL, TYPE 2B
  ARTHROGRYPOSIS, DISTAL, TYPE 2B, INCLUDED
  CARDIOMYOPATHY, DILATED 1S (CMD1S)
  CARDIOMYOPATHY, DILATED, 1S
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
  CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC
  CARNEY COMPLEX VARIANT
  DEAFNESS, AUTOSOMAL DOMINANT 11
  DEAFNESS, AUTOSOMAL DOMINANT 17
  DEAFNESS, AUTOSOMAL DOMINANT 22
  DEAFNESS, AUTOSOMAL DOMINANT 4
  DEAFNESS, AUTOSOMAL DOMINANT 48
  DEAFNESS, AUTOSOMAL RECESSIVE 2
  DEAFNESS, AUTOSOMAL RECESSIVE 3
  DEAFNESS, AUTOSOMAL RECESSIVE 30
  DEAFNESS, AUTOSOMAL RECESSIVE 37
  DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY
  EPSTEIN SYNDROME
  EPSTEIN SYNDROME, INCLUDED
  EPSTEIN SYNDROME, INCLUDED;;
  FECHTNER SYNDROME
  FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6
  LAING DISTAL MYOPATHY
  LEFT VENTRICULAR NONCOMPACTION 5
  LEFT VENTRICULAR NONCOMPACTION 5, INCLUDED
  MAY-HEGGLIN ANOMALY
  MAY-HEGGLIN ANOMALY, INCLUDED
  MICROVILLUS INCLUSION DISEASE
  SEBASTIAN SYNDROME, INCLUDED;;
  SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO
  TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, INCLUDED
  USHER SYNDROME 1B (USH1B)
  USHER SYNDROME, TYPE IB
  USHER SYNDROME, TYPE IB, INCLUDED


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
ATP-binding site
switch I region
switch II region
converter subdomain
relay loop
SH1 helix






























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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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