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Myosin binding protein C, slow type

skeletal muscle C-protein, MYBPC1, slow MyBP-C
This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] (from NCBI)
Top mentioned proteins: FasT, CAN, ACID, Actin, TM3
Papers on skeletal muscle C-protein
Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
Baris et al., Haifa, Israel. In Clin Genet, Jan 2016
Variant analysis focused on rare homozygous changes, revealed a missense variant in MYBPC1, NM_002465:c.556G>A
The oncogenic potential of BK-polyomavirus is linked to viral integration into the human genome.
Nickeleit et al., Chapel Hill, United States. In J Pathol, Nov 2015
We show that a novel BK-polyomavirus strain, named CH-1, is integrated into exon 26 of the myosin-binding protein C1 gene (MYBPC1) on chromosome 12 in tumour cells but not in normal renal cells.
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.
Jiang et al., Shenyang, China. In Plos One, 2014
Of these genes, mutations in the gene encoding myosin binding protein C slow MYBPC1 were recently identified in two families with distal arthrogryposis type 1B.
Myosin Binding Protein-C Slow Phosphorylation is Altered in Duchenne Dystrophy and Arthrogryposis Myopathy in Fast-Twitch Skeletal Muscles.
Kontrogianni-Konstantopoulos et al., Baltimore, United States. In Sci Rep, 2014
Myosin Binding Protein-C slow (sMyBP-C), encoded by MYBPC1, comprises a family of regulatory proteins of skeletal muscles that are phosphorylated by PKA and PKC.
Disuse deterioration of human skeletal muscle challenged by resistive exercise superimposed with vibration: evidence from structural and proteomic analysis.
Blottner et al., Milano, Italy. In Faseb J, 2014
RVE (but not RE) preserved myofiber size and phenotype in Sol and VL by overexpressing MYBPC1 (42%, P ≤ 0.01), WDR1 (39%, P ≤ 0.01), sarcosin (84%, P ≤ 0.01), and CKM (20%, P ≤ 0.01) and prevented myofibrillar ultrastructural damage as detectable by MuRF1 expression.
RANKL expression in normal and malignant breast tissue responds to progesterone and is up-regulated during the luteal phase.
Khan et al., Chicago, United States. In Breast Cancer Res Treat, 2014
Expression of RANKL, DIO2, and MYBPC1 was correlated with serum progesterone in CUB, and was significantly higher in luteal phase.
MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.
Gurnett et al., In Hum Mol Genet, 2014
Myosin-binding protein C1 (MYBPC1) is an abundant skeletal muscle protein that is expressed predominantly in slow-twitch muscle fibers.
Identification and validation of differentially expressed genes from pig skeletal muscle.
Guimarães et al., Viçosa, Brazil. In J Anim Breed Genet, 2013
From this, the expression profile of 13 genes was measured, to confirm their relationship with myogenesis like ANKRD2, MYBPC1, NEB and MYL2.
A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.
Li et al., Shenyang, China. In Gene, 2013
Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700).
Myosin binding protein-C slow: a multifaceted family of proteins with a complex expression profile in fast and slow twitch skeletal muscles.
Kontrogianni-Konstantopoulos et al., Baltimore, United States. In Front Physiol, 2012
The slow form of MyBP-C was originally classified as a single protein, however several variants encoded by the single MYBPC1 gene have been recently identified.
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.
Birk et al., Beersheba, Israel. In Hum Mutat, 2012
Whole exome sequencing identified a novel LCCS founder mutation within a minimal shared homozygosity locus of approximately 1 Mb in two affected individuals of different tribes: a homozygous premature stop producing mutation in MYBPC1, encoding myosin-binding protein C, slow type.
Slow skeletal muscle myosin-binding protein-C (MyBPC1) mediates recruitment of muscle-type creatine kinase (CK) to myosin.
Zhou et al., Beijing, China. In Biochem J, 2011
MyBPC1 acts as an adaptor to connect the ATP consumer (myosin) and the regenerator (muscle type creatine kinase) for efficient energy metabolism and homoeostasis.
A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.
Li et al., Shenyang, China. In Eur J Med Genet, 2011
Recently, mutations in genes encoding the fast-twitch skeletal muscle contractile myofibers complex, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosine 2 (TPM2), and embryonic myosin heavy chain 3 (MYH3), and the slow-twitch skeletal muscle myosin binding protein C1 (MYBPC1) were confirmed to cause DA1, DA2A, and DA2B.
MYBPC1 computational phosphoprotein network construction and analysis between frontal cortex of HIV encephalitis (HIVE) and HIVE-control patients.
Sun et al., Beijing, China. In Cell Mol Neurobiol, 2011
Significant molecule MYBPC1 phosphoprotein network from 12 frontal cortex of HIV encephalitis (HIVE) control patients and 16 HIVE, was identified and constructed.
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
Dobbs et al., Saint Louis, United States. In Hum Mol Genet, 2010
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.
[Recent advance in polymyositis and dermatomyositis research].
Kohsaka, Tokyo, Japan. In Nihon Rinsho, 2009
Although pathogenic autoantigens are to be identified, skeletal muscle C-protein was an excellent immunogen to provoke experimental myositis mimicking human PM.
Unique disease heritage of the Dutch-German Mennonite population.
Bech-Hansen et al., Calgary, Canada. In Am J Med Genet A, 2008
Such studies in the Dutch-German Mennonite population have already contributed to the identification of the causative genes in several conditions such as the incomplete form of X-linked congenital stationary night blindness (CSNB2; previously iCSNB) and hypophosphatasia (HOPS), as well as the discovery of founder mutations within established disease genes (MYBPC1, CYP17alpha).
Localization of the binding site of the C-terminal domain of cardiac myosin-binding protein-C on the myosin rod.
Redwood et al., Oxford, United Kingdom. In Biochem J, 2007
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.
Expression of slow skeletal myosin binding C-protein in normal adult mammalian heart.
Perry et al., London, United Kingdom. In J Muscle Res Cell Motil, 2004
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.
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