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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

Corresponding disease	AMCD1B arthrogryposis multiplex congenita, distal, type 1B LCCS4 lethal congenital contracture syndrome 4
Location	12q23.2      Physical location : 101.988.746 - 102.079.657
Synonym name	skeletal muscle C-protein
	slow MyBP-C
Synonym symbol(s)	MYBPCS, MYBPCC, sMyBP-C

DNA

TYPE	functioning gene
STRUCTURE	90.91 kb     32 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002465 32 - 3938 NP_002456 131.5 1171 - 2011 21426302 NM_206819 31 - 3879 NP_996555 129 1148 - 2011 21426302 NM_206820 30 - 3858 NP_996556 128.2 1141 - 2011 21426302 NM_206821 29 - 3804 NP_996557 126.3 1123 - 2011 21426302 NM_001254723 27 - 3778 NP_001241652 - 1139 - 2011 21426302 NM_001254722 28 - 3841 NP_001241651 - 1120 - 2011 21426302 NM_001254721 29 - 3862 NP_001241650 - 1127 - 2011 21426302 NM_001254720 29 - 3883 NP_001241649 - 1134 - 2011 21426302 NM_001254719 30 - 3919 NP_001241648 - 1146 - 2011 21426302 NM_001254718 29 - 3930 NP_001241647 - 1173 - 2011 21426302

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive liver       highly   mouth tongue     highly   pharynx       highly Nervous brain           spinal cord       highly Reproductive male system prostate

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly Homo sapiens Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	in skeletal muscle during early fetal development

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