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myl7

myosin, light polypeptide 7, regulatory

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GeneInformationForm
GeneName myl7
Aliases ENSDARG:ENSDARG00000019096; cmlc2; mylc2a; MGC92755; zgc:92755; myl7
Description myosin, light polypeptide 7, regulatory
GenomicLocation chromosome 8 42650575-42658403 reverse strand
ExternalIDs Entrez:30592; EMBL:AF114428; UniGene:642; ZFIN:ZDB-GENE-991019-3;
TranscriptID ENSDART:ENSDART00000040013; ENSDART:ENSDART00000124414; ENSDART:ENSDART00000130798
mRNA NCBI:NM_131329
GeneDescription The myl7 gene is zebrafish ortholog of the human regulatory myosin light chain (RLC) gene. Myl7 is a regulatory light chain and potential modulator of contractile activity in heart muscle cells. Its expression is temporally and spatially regulated and is restricted to the heart.
GeneFunction Yelon et al. (1999) studied the role of cmlc2 gene expression in the process of heart tube assembly and subsequent orientation of the anterior-posterior ends of the ventricle and atrium. Huang et al. (2003) studied the heart specific expression of the cmlc2 gene by cloning an upstream sequence of the zebrafish cmlc2 fused with a green fluorescent protein (GFP) cDNA. They also determined the minimal upstream region and key cis-elements of zebrafish cmlc2 that control heart-specific expressionRottbauer et al. (2006) provided the first in vivo evidence that cardiac MLC-2 is required for thick-filament stabilization and contractility in the vertebrate heart. Loss of this unique zmlc completely abolishes myofibrillar assembly in a cell-autonomous fashion in tel mutant hearts, demonstrating that MLC-2 is essential for cardiac myofibrillogenesis in vivo.Chen et al. (2008) elucidated the role of cmlc2 gene in the determination sarcomere structure and showed that cmlc2 is required for sarcomere assembly and also for modulating cardiac contractility, ventricular chamber volume, cardiomyocyte size and number during cardiogenesis. Their results demonstrated that mutations in cmlc2 might result in cardiomyopathies with specific pathological characteristics.
GeneCloning It is contained in [BAC] CH211-87L2
GeneStructure The gene codes for three transcripts. The transcript (ENSDART00000040013) having 7 exons and is 1,026 bps in length. The protein product (ENSDARP00000040012) consists of 172 residues. The remaining two ranscripts donot code for a functional protein.
Protein ENSDARP00000040012
ProteinDomainandFamilies has domain InterPro:IPR011992; InterPro:IPR002048;
Motifs has motif Prosite:PS00018; PFAM:PF00036;
Expression ArrayExpress:ENSDARG00000019096
GeneOntology GO:0045823; GO:0055004; GO:0055005; GO:0006816; GO:0045823; GO:0055004; GO:0055005; GO:0006816; GO:0005509; GO:0005262; GO:0019855; GO:0005509; GO:0005262; GO:0019855;
Orthologs

VariationAndRepeats RSID:rs180147567; RSID:rs40885021; RSID:rs179657217; RSID:rs179710605; RSID:rs179710649; RSID:rs179710479; RSID:rs179710475; RSID:rs179710508; RSID:rs179710502; RSID:rs179710516; RSID:rs179657215; RSID:rs179657214; RSID:rs179657213; RSID:rs179710647; RSID:rs179710558; RSID:rs180147568
DisordersAndMutations The ENU-induced tell tale heart mutation of the cmlc2 gene selectively perturbs the early embryonic heart contractility. The mutants show defects in cardiac myofibrillar assembly (Rottbauer et al. (2006)).Morpholino Antisense oligonucleotide directed against the translational start site of zebrafish cardiac mlc-2 has the sequence 5'-GCTTTTTTACTAGCCATGTTCACTG-3' (Rottbauer et al. (2006)), 5'-TGCGTTGCACTTTATTTGCTGCGAT-3' MO-cmlc1 (targets translation start site); 5'-GGGTTCCACTTTTTTTGGTGCCAT-3' MO-cmlc2 (targets splice donor of exon 3); 5'-CTCAAGTGTACCTAGTTGTGCATAA-3' (Chen Z et al. (2008)) .
RelatedPubMedArticles Yelon, D.; Horne, S.A.; Stainier, D.Y.R.: Restricted Expression of Cardiac Myosin Genes Reveals Regulated Aspects of Heart Tube Assembly in Zebrafish. Dev. Biol. 214(1): 23-37,1999. PMID:10491254 .Huang, C.J.; Tu, C.T.; Hsiao, C.D.; Hsieh, F.J.; Tsai, H.J.:Germ-line transmission of a myocardium-specific GFP transgene reveals critical regulatory elements in the cardiac myosin light chain 2 promoter of zebrafish. Dev Dyn. 228(1):30-40,2003. PMID:12950077 . Rottbauer, W.; Wessels, G.; Dahme, T.; Just, S.; Trano, N.; Hassel, D.; Burns, C.G.; Katus, H.A.;Fishman, M.C. : Cardiac myosin light chain 2- Anovel essential component of thick-myofilament assembly and contractility of heart. Circ. Res. 99(3): 323-331,2006. PMID:16809551 .Chen, Z.; Huang, W.; Dahme, T.; Rottbauer, W.; Ackerman, M.J.; Xu, X.: Depletion of zebrafish essential and regulatory myosin light chains reduces cardiac function through distinct mechanisms. Cardiovasc Res.79(1):97-108,2008. PMID:18343897 .NCBI Resource Coordinators.: Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 41(Database issue):D8-D20. 2013. PMID:23193264
Kersey, P. J.; Allen, J. E.; Christensen, M.; et al.: Ensembl Genomes 2013: scaling up access to genome-wide data. Nucleic Acids Res. 2013. PMID:24163254
Sigrist, C. J. A.; de, Castro, E; Cerutti, L; Cuche, B. A.; Hulo, N.; Bridge, A.; Bougueleret, L. Xenarios, I.: New and continuing developments at PROSITE. Nucleic Acids Res. doi: 10.1093/nar/gks1067. 2012. PMID:23161676
Punta, M.; Coggill, P. C.; Eberhardt, et al.: The Pfam protein families database. Nucleic Acids Res. 40(Database Issue):D290-D301. 2012. PMID:22127870
Hunter, S.; Jones P.; Mitchell A.; et al.: Interpro in 2011: new developments in the family and domain prediction database. Nucleic Acids Res. doi: 10.1093/nar/gkr948. 2011. PMID:22096229
Carbon, S.; Ireland, A.; Mungall, C. J.; Shu, S.; Marshall, B.; Lewis, S.; AMIGO Hub; Web Presence Working Group.: AMIGO: online access to ontology and annotation data. Bioinformatics. 25(2):288-9. 2009. PMID:19033274
Ashburner, M.; Ball, C. A.; Blake, J. A.; et al. The Gene Ontology Consortium.: Gene ontology: tool for the unification of biology. Nat. Genet. 25(1):25-9. 2000. PMID:10802651
Sherry, S. T.; Ward, M. H.; Kholodov, M.; Baker, J.; Phan, L.; Smigielski, E. M.; Sirotkin, K.: dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 1;29(1):308-11. 2001. PMID:11125122
Bradford, Y.; Conlin, T.; Dunn, N.; et al.: ZFIN: enhancements and updates to the zebrafish model organism database. Nucleic Acids Res. 39(suppl 1):D822-D829. 2011. PMID:21036866
Kapushesky, M.; Adamusiak, T.; Burdett, T.; et al.: Gene Expression Atlas update--a value-added database of microarray and sequencing-based functional genomics experiments. Nucleic Acids Res. 40(Database isue):D1077-81. 2012. PMID:22064864

Web resources:
NCBI: http://www.ncbi.nlm.nih.gov/
PFAM: http://pfam.sanger.ac.uk/
PROSITE: http://prosite.expasy.org/
Interpro: http://www.ebi.ac.uk/interpro/
ZFIN: http://zfin.org/
Expression Atlas (EMBL): http://www.ebi.ac.uk/gxa/
Ensembl: http://asia.ensembl.org/Danio_rerio/
Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine.: http://www.ncbi.nlm.nih.gov/SNP/
PRINTS from Genomenet: http://www.genome.jp/
European Nucleotide Archive: http://www.ebi.ac.uk/ena/home
UNIGENE: http://www.ncbi.nlm.nih.gov/unigene/
AMIGO Gene Ontology: http://amigo.geneontology.org
Topic revision: r2 - 2013-08-03 - SrishtiNanda
 
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