Property Summary

NCBI Gene PubMed Count 34
PubMed Score 19.76
PubTator Score 15.43

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Gene

PDB

1X44   2DAV   2YUV   2YUW   2YUX   2YUZ   2YXM  

Gene RIF (13)

PMID Text
26831109 Ca(2+) modulates the interaction of cMyBP-C with the thin filament in the sarcomere.
25679999 Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 were both found to occur in the C2 immunoglobulin domain, which constitutes part of the binding site for the S2 subfragment of myosin.
24093860 Mutations in the MYH7 gene, rather than in the MYBPC3 gene, were also related to a worse prognosis. This is the first work characterizing HC molecular epidemiology in the Brazilian population for the 3 most important genes.
22610851 Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1
21426302 MyBPC1 acts as an adaptor to connect the ATP consumer (myosin) and the regenerator (muscle type creatine kinase) for efficient energy metabolism and homoeostasis.
21061152 Significant molecule MYBPC1 phosphoprotein network from 12 frontal cortex of HIV encephalitis (HIVE) control patients and 16 HIVE, was identified and constructed.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20045868 These findings reveal that the MYBPC1 is a novel gene responsible for DA1, though the mechanism of disease may differ from how some cardiac MYBPC3 mutations cause hypertrophic cardiomyopathy.
19913121 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MPEPTKKEENEVPAPAPPPEEPSKEKEAGTTPAKDWTLVETPPGEEQAKQNANSQLSILFIEKPQGGTVK      1 - 70
VGEDITFIAKVKAEDLLRKPTIKWFKGKWMDLASKAGKHLQLKETFERHSRVYTFEMQIIKAKDNFAGNY     71 - 140
RCEVTYKDKFDSCSFDLEVHESTGTTPNIDIRSAFKRSGEGQEDAGELDFSGLLKRREVKQQEEEPQVDV    141 - 210
WELLKNAKPSEYEKIAFQYGITDLRGMLKRLKRMRREEKKSAAFAKILDPAYQVDKGGRVRFVVELADPK    211 - 280
LEVKWYKNGQEIRPSTKYIFEHKGCQRILFINNCQMTDDSEYYVTAGDEKCSTELFVREPPIMVTKQLED    281 - 350
TTAYCGERVELECEVSEDDANVKWFKNGEEIIPGPKSRYRIRVEGKKHILIIEGATKADAAEYSVMTTGG    351 - 420
QSSAKLSVDLKPLKILTPLTDQTVNLGKEICLKCEISENIPGKWTKNGLPVQESDRLKVVHKGRIHKLVI    421 - 490
ANALTEDEGDYVFAPDAYNVTLPAKVHVIDPPKIILDGLDADNTVTVIAGNKLRLEIPISGEPPPKAMWS    491 - 560
RGDKAIMEGSGRIRTESYPDSSTLVIDIAERDDSGVYHINLKNEAGEAHASIKVKVVDFPDPPVAPTVTE    561 - 630
VGDDWCIMNWEPPAYDGGSPILGYFIERKKKQSSRWMRLNFDLCKETTFEPKKMIEGVAYEVRIFAVNAI    631 - 700
GISKPSMPSRPFVPLAVTSPPTLLTVDSVTDTTVTMRWRPPDHIGAAGLDGYVLEYCFEGSTSAKQSDEN    701 - 770
GEAAYDLPAEDWIVANKDLIDKTKFTITGLPTDAKIFVRVKAVNAAGASEPKYYSQPILVKEIIEPPKIR    771 - 840
IPRHLKQTYIRRVGEAVNLVIPFQGKPRPELTWKKDGAEIDKNQINIRNSETDTIIFIRKAERSHSGKYD    841 - 910
LQVKVDKFVETASIDIQIIDRPGPPQIVKIEDVWGENVALTWTPPKDDGNAAITGYTIQKADKKSMEWFT    911 - 980
VIEHYHRTSATITELVIGNEYYFRVFSENMCGLSEDATMTKESAVIARDGKIYKNPVYEDFDFSEAPMFT    981 - 1050
QPLVNTYAIAGYNATLNCSVRGNPKPKITWMKNKVAIVDDPRYRMFSNQGVCTLEIRKPSPYDGGTYCCK   1051 - 1120
AVNDLGTVEIECKLEVKVIAQ                                                    1121 - 1141
//

Text Mined References (39)

PMID Year Title
26831109 2016 C0 and C1 N-terminal Ig domains of myosin binding protein C exert different effects on thin filament activation.
26661508 2016 Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
25679999 2015 Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.
24270810 2013 High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy.
24093860 2013 Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.
24023788 2013 Gene network analysis in a pediatric cohort identifies novel lung function genes.
23414517 2013 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
22610851 2012 Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.
21426302 2011 Slow skeletal muscle myosin-binding protein-C (MyBPC1) mediates recruitment of muscle-type creatine kinase (CK) to myosin.
21061152 2011 MYBPC1 computational phosphoprotein network construction and analysis between frontal cortex of HIV encephalitis (HIVE) and HIVE-control patients.
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