Misplaced Pages

MYBPC1
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 1X44, 2DAV, 2YUV, 2YUW, 2YUX, 2YUZ, 2YXM
Identifiers
Aliases	MYBPC1, LCCS4, MYBPCC, MYBPCS, myosin binding protein C, slow type, ssMyBP-C, MYOTREM, myosin binding protein C1
External IDs	OMIM: 160794; MGI: 1336213; HomoloGene: 1846; GeneCards: MYBPC1; OMA:MYBPC1 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) Band 12q23.2 Start 101,568,353 bp End 101,686,028 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10|10 C1 Start 88,354,141 bp End 88,441,014 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Skeletal muscle tissue of rectus abdominis biceps brachii Skeletal muscle tissue of biceps brachii deltoid muscle gastrocnemius muscle glutes vastus lateralis muscle muscle of thigh triceps brachii muscle thoracic diaphragm Top expressed in temporal muscle ankle soleus muscle sternocleidomastoid muscle digastric muscle tibialis anterior muscle extraocular muscle thoracic diaphragm vastus lateralis muscle gastrocnemius muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function actin binding structural constituent of muscle protein binding titin binding actin filament binding muscle alpha-actinin binding structural molecule activity conferring elasticity Cellular component myosin filament cytosol myofibril muscle myosin complex Z discdkac M band striated muscle thin filament sarcomere Biological process cell adhesion muscle contraction muscle filament sliding striated muscle contraction actin filament organization sarcomere organization striated muscle myosin thick filament assembly skeletal muscle thin filament assembly skeletal muscle myosin thick filament assembly cardiac myofibril assembly cardiac muscle tissue morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4604 109272 Ensembl ENSG00000196091 ENSMUSG00000020061 UniProt Q00872 n/a RefSeq (mRNA) NM_001254718 NM_001254719 NM_001254720 NM_001254721 NM_001254722 NM_001254723 NM_002465 NM_206819 NM_206820 NM_206821 NM_001404675 NM_001404676 NM_001404677 NM_001404678 NM_001404679 NM_001404680 NM_001404681 NM_001252372 NM_175418 RefSeq (protein) NP_001241647 NP_001241648 NP_001241649 NP_001241650 NP_001241651 NP_001241652 NP_002456 NP_996555 NP_996556 NP_996557 n/a Location (UCSC) Chr 12: 101.57 – 101.69 Mb Chr 10: 88.35 – 88.44 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Myosin-binding protein C, slow-type is a protein that in humans is encoded by the MYBPC1 gene.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000196091 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000020061 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Weber FE, Vaughan KT, Reinach FC, Fischman DA (Oct 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". Eur J Biochem. 216 (2): 661–9. doi:10.1111/j.1432-1033.1993.tb18186.x. PMID 8375400.
6. Flashman E, Watkins H, Redwood C (Dec 2006). "Localization of the binding site of the C-terminal domain of cardiac myosin-binding protein-C on the myosin rod". Biochem J. 401 (1): 97–102. doi:10.1042/BJ20060500. PMC 1698665. PMID 16918501.
7. "Entrez Gene: MYBPC1 myosin binding protein C, slow type".

Further reading

• Fürst DO, Vinkemeier U, Weber K (1992). "Mammalian skeletal muscle C-protein: purification from bovine muscle, binding to titin and the characterization of a full-length human cDNA". J. Cell Sci. 102 (4): 769–78. doi:10.1242/jcs.102.4.769. PMID 1429890.
• Johnston LH, Barker DG, Nurse P (1986). "Cloning and characterization of the Schizosaccharomyces pombe DNA ligase gene CDC17". Gene. 41 (2–3): 321–5. doi:10.1016/0378-1119(86)90114-9. PMID 3011605.
• Auffray C, Behar G, Bois F, et al. (1995). "". Comptes Rendus de l'Académie des Sciences, Série III. 318 (2): 263–72. PMID 7757816.
• Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549.
• Alyonycheva TN, Mikawa T, Reinach FC, Fischman DA (1997). "Isoform-specific interaction of the myosin-binding proteins (MyBPs) with skeletal and cardiac myosin is a property of the C-terminal immunoglobulin domain". J. Biol. Chem. 272 (33): 20866–72. doi:10.1074/jbc.272.33.20866. PMID 9252413.
• Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
• Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
• Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
• Welikson RE, Fischman DA (2003). "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". J. Cell Sci. 115 (Pt 17): 3517–26. doi:10.1242/jcs.115.17.3517. PMID 12154082.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Konno T, Shimizu M, Ino H, et al. (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". J. Am. Coll. Cardiol. 41 (5): 781–6. doi:10.1016/S0735-1097(02)02957-1. hdl:2297/15819. PMID 12628722.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Beatham J, Romero R, Townsend SK, et al. (2006). "Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres". Hum. Mol. Genet. 13 (22): 2863–74. doi:10.1093/hmg/ddh308. PMID 15385448.
• Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
• Dhoot GK, Perry SV (2006). "Expression of slow skeletal myosin binding C-protein in normal adult mammalian heart". J. Muscle Res. Cell. Motil. 26 (2–3): 143–8. doi:10.1007/s10974-005-3089-1. PMID 16003462. S2CID 12278011.
• Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
• McGrath MJ, Cottle DL, Nguyen MA, et al. (2006). "Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly". J. Biol. Chem. 281 (11): 7666–83. doi:10.1074/jbc.M512552200. PMID 16407297.

This article on a gene on human chromosome 12 is a stub. You can help Misplaced Pages by expanding it.

• v
• t
• e

• Genes on human chromosome 12
• Human chromosome 12 gene stubs