MYBPC1 is a 1,141 amino acid protein that contains three fibronectin type-III domains and seven Ig-like C2-type domains. Existing as a member of the immunoglobulin superfamily, MYBPC1 functions as a thick filament-associated protein that localizes to striated muscle bands in vertebrae and is thought to modify the activity of select ATPases. Additionally, MYBPC1 may play a role in the modulation of muscle contraction and in the overall structural integrity of the cell. The gene encoding MYBPC1 maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and Trisomy 12p, which causes facial developmental defects and seizure disorders.
Function:
Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.
Subunit:
Interacts with USP25 (isoform USP25m only); the interaction prevents proteasomal degradation of MYBPC1.
DISEASE:
Defects in MYBPC1 are the cause of arthrogryposis, distal, type 1B (DA1B) [MIM:614335]. A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected.
Note=Defects in MYBPC1 may be a cause of autosomal recessive lethal congenital contractural syndrome (LCCS), a severe, neonatally lethal form of arthrogryposis.
Similarity:
Belongs to the immunoglobulin superfamily. MyBP family.
Contains 3 fibronectin type-III domains.
Contains 7 Ig-like C2-type (immunoglobulin-like) domains.
SWISS:
Q00872
Gene ID:
924
Database links:
Entrez Gene: 924 Human
Entrez Gene: 109272 Mouse
Entrez Gene: 362867 Rat
Omim: 160794 Human
SwissProt: Q00872 Human
SwissProt: Q63518 Rat
Unigene: 654589 Human
Unigene: 147208 Mouse
Unigene: 9153 Rat
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