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FLASH GENE

Symbol

MYBPC1

contributors: mct/npt - updated : 25-11-2016

HGNC name	myosin binding protein C, slow type
HGNC id	7549

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	eight Ig C2 domains
	three fibronectin type III domains
	N- and C_termini of MYBPC1 have distinct functions, which are regulated by differential splicing, and are compromized by the presence of missense point mutations linked to muscle disease

conjugated

PhosphoP

HOMOLOGY

interspecies

homolog to murine Mybpc1

Homologene

FAMILY	immunoglobulin superfamily
	MYBP subfamily

CATEGORY

motor/contractile , structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton
text	the A band of sarcomeres

basic FUNCTION	may be playing a role in myofibril formation, that binds titin and myosin
	may modulate muscle contraction or may play a more structural role
	major myosin-associated protein in striated muscle that enhances the lateral association and stabilization of myosin thick filaments and regulates actomyosin
	interactions
	sarcomeric protein involved both in thick filament structure and in the regulation of contractility
	potentially acting as an adaptor to connect the ATP consumer (myosin) and the regenerator (CKM) for efficient energy metabolism and homoeostasis
	functions to modulate the formation of actomyosin cross-bridges, and to organize and stabilize sarcomeric A- and M-bands

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binding to myosin
	binding to titin
	binds to the LMM (light meromyosin) portion of the myosin rod via its C-terminal domain, C10
	a new ligand of obscurin at the M-band is MYBPC1, suggesting that their interaction contributes to the assembly of M- and A-bands
	CKM physically interact with the slow skeletal muscle-type MYBPC1 (CKM binds to the C-terminal domains of MYBPC1, which is also the binding site of myosin)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AMCD1B , LCCS4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       principal cause of HCM (hypertrophic cardiomyopathy)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS