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)

Disease log2 FC p
ependymoma -3.300 1.6e-12
glioblastoma -2.300 7.9e-03
group 3 medulloblastoma -4.400 2.5e-05
atypical teratoid/rhabdoid tumor -4.000 3.0e-11
medulloblastoma, large-cell -3.600 3.5e-05
primitive neuroectodermal tumor -3.400 3.0e-05
intraductal papillary-mucinous adenoma (... 1.700 4.3e-02
intraductal papillary-mucinous neoplasm ... 2.600 2.1e-02
lung adenocarcinoma 1.100 1.1e-02
pediatric high grade glioma -2.500 3.6e-04
pilocytic astrocytoma -3.000 8.0e-07
psoriasis -1.300 8.0e-09
Pick disease 1.100 3.1e-03
Breast cancer -3.100 1.9e-05

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)
16918501 to determine whether HCM mutations in beta myosin heavy chain located within the light meromyosin portion alter the binding of cMyBP-C, and to define the precise region of this binding.
16003462 The present study demonstrates slow skeletal muscle type C-protein in moderate amount in right atrium and interatrial septum of adult human, rabbit, rat and bovine hearts using both immunocytochemical and immunoblotting procedures.
12628722 Screening patients with dilated cardiomyopathy, as well as hypertrophic cardiomyopathy, for this mutation is of signifiant importance with this mutation diagnosing dilated cardiomyopathy.

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.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20045868 2010 Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16918501 2007 Localization of the binding site of the C-terminal domain of cardiac myosin-binding protein-C on the myosin rod.
16541075 2006 The finished DNA sequence of human chromosome 12.
16501887 2006 The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins.
16407297 2006 Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16003462 2005 Expression of slow skeletal myosin binding C-protein in normal adult mammalian heart.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15203218 2004 Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12628722 2003 A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12154082 2002 The C-terminal IgI domains of myosin-binding proteins C and H (MyBP-C and MyBP-H) are both necessary and sufficient for the intracellular crosslinking of sarcomeric myosin in transfected non-muscle cells.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11076863 2000 DNA cloning using in vitro site-specific recombination.
9252413 1997 Isoform-specific interaction of the myosin-binding proteins (MyBPs) with skeletal and cardiac myosin is a property of the C-terminal immunoglobulin domain.
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.
8375400 1993 Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment.
7757816 1995 [IMAGE: molecular integration of the analysis of the human genome and its expression].
3011605 1986 Cloning and characterization of the Schizosaccharomyces pombe DNA ligase gene CDC17.
1429890 1992 Mammalian skeletal muscle C-protein: purification from bovine muscle, binding to titin and the characterization of a full-length human cDNA.