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MYBPC3 myosin binding protein C, cardiac [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000256 Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_006718238 PREDICTED: Homo sapiens myosin binding protein C, cardiac (MYBPC3), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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Gene Symbol MYBPC3
Entrez Gene ID 4607
Full Name myosin binding protein C, cardiac
Synonyms CMD1MM, CMH4, FHC, LVNC10, MYBP-C
General protein information
Preferred Names
myosin-binding protein C, cardiac-type
Names
myosin-binding protein C, cardiac-type
C-protein, cardiac muscle isoform
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11p11.2

Summary MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008].
Disorder

MIM: 600958

Cardiomyopathy, familial hypertrophic, 4, 115197 (3);

mRNA Protein Product Sequence Price Select
NM_000256, 148596956 NP_000247, 148596957 myosin-binding protein C, cardiac-type ORF Sequence $1500.00
XM_006718238, 578820551 XP_006718301, 578820552 myosin-binding protein C, cardiac-type isoform X1 ORF Sequence $1500.00
KEGG
hsa05414Dilated cardiomyopathy
hsa05410Hypertrophic cardiomyopathy (HCM)
WikiPathways
WP383Striated Muscle Contraction
Reactome
REACT_16969Striated Muscle Contraction
REACT_17044Muscle contraction
Homo sapiens (human)MYBPC3NP_000247.2
Pan troglodytes (chimpanzee)MYBPC3XP_508410.4
Macaca mulatta (Rhesus monkey)MYBPC3XP_002808117.1
Canis lupus familiaris (dog)MYBPC3NP_001041571.1
Bos taurus (cattle)MYBPC3NP_001070004.1
Mus musculus (house mouse)Mybpc3NP_032679.2
Rattus norvegicus (Norway rat)Mybpc3NP_001099960.1
Gallus gallus (chicken)MYBPC3NP_990447.1
Danio rerio (zebrafish)mybpc3NP_001037814.2
Xenopus (Silurana) tropicalis (western clawed frog)mybpc3NP_001106379.1
Process
IDNameEvidence
GO:0002027regulation of heart rateIEA
GO:0003007heart morphogenesisIMP
GO:0006942regulation of striated muscle contractionISS
GO:0007155cell adhesionIEA
GO:0030049muscle filament slidingTAS
GO:0031034myosin filament assemblyIEA
GO:0032781positive regulation of ATPase activityISS
GO:0032971regulation of muscle filament slidingISS
GO:0045214sarcomere organizationIEA
GO:0055010ventricular cardiac muscle tissue morphogenesisIMP
GO:0060048cardiac muscle contractionISS
Component
IDNameEvidence
GO:0005829cytosolTAS
GO:0005863striated muscle myosin thick filamentIDA
GO:0005863striated muscle myosin thick filamentISS
GO:0014705C zoneNAS
GO:0030017sarcomereIDA
GO:0031672A bandIDA
Function
IDNameEvidence
GO:0001671ATPase activator activityISS
GO:0003779actin bindingIEA
GO:0008307structural constituent of muscleIMP
GO:0017022myosin bindingIDA
GO:0031432titin bindingNAS
GO:0032036myosin heavy chain bindingIPI
GO:0042802identical protein bindingIPI
GO:0046872metal ion bindingIEA
GeneCards MYBPC3
UniProt Q14896, A5YM48
Vega OTTHUMG00000166986
MIM 600958
Ensembl ENSG00000134571
HGNC 7551
HPRD 02980

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the MYBPC3 gene?

The MYBPC3 gene provides instructions for making the cardiac myosin binding protein C (cardiac MyBP-C), which is found in heart (cardiac) muscle cells. In these cells, cardiac MyBP-C is associated with a structure called the sarcomere, which is the basic unit of muscle contraction. Sarcomeres are made up of thick and thin filaments. The overlapping thick and thin filaments attach to each other and release, which allows the filaments to move relative to one another so that muscles can contract. Regular contractions of cardiac muscle pump blood to the rest of the body.

In cardiac muscle sarcomeres, cardiac MyBP-C attaches to thick filaments and keeps them from being broken down. Cardiac MyBP-C has chemical groups called phosphate groups attached to it; when the phosphate groups are removed, cardiac MyBP-C is broken down, followed by the breakdown of the proteins of the thick filament. Cardiac MyBP-C also regulates the rate of muscle contraction, although the mechanism is not fully understood.

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