MYL3

From Wikipedia, the free encyclopedia

Myosin, light chain 3, alkali; ventricular, skeletal, slow

Identifiers

MYL3; CMH8; MLC1V; VLC1

External IDs

OMIM: 160790 MGI: 97268 HomoloGene: 20099

Gene ontology
Molecular Function:	• motor activity • calcium ion binding • structural constituent of muscle
Cellular Component:	• muscle myosin complex • myosin complex
Biological Process:	• muscle contraction

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000258 (mRNA)
NP_000249 (protein)

XM_979450 (mRNA)
XP_984544 (protein)

Location

Chr 3: 46.87 - 46.88 Mb

Chr 9: 110.61 - 110.61 Mb

Pubmed search

[1]

[2]

Myosin, light chain 3, alkali; ventricular, skeletal, slow, also known as MYL3, is a human gene.^[1]

MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy.^[1]

[edit] References

^ ^a ^b Entrez Gene: MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow.

[edit] Further reading

Schaub MC, Hefti MA, Zuellig RA, Morano I (1998). "Modulation of contractility in human cardiac hypertrophy by myosin essential light chain isoforms.". Cardiovasc. Res. 37 (2): 381–404. PMID 9614495.
Shi Q, Li RK, Mickle DA, Jackowski G (1993). "Analysis of the upstream regulatory region of human ventricular myosin light chain 1 gene.". J. Mol. Cell. Cardiol. 24 (11): 1221–9. PMID 1479618.
Stragier P, Kunkel B, Kroos L, Losick R (1989). "Chromosomal rearrangement generating a composite gene for a developmental transcription factor.". Science 243 (4890): 507–12. PMID 2536191.
Cohen-Haguenauer O, Barton PJ, Van Cong N, et al. (1989). "Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4).". Hum. Genet. 81 (3): 278–82. PMID 2784124.
Fodor WL, Darras B, Seharaseyon J, et al. (1989). "Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location.". J. Biol. Chem. 264 (4): 2143–9. PMID 2789520.
Hoffmann E, Shi QW, Floroff M, et al. (1988). "Molecular cloning and complete nucleotide sequence of a human ventricular myosin light chain 1.". Nucleic Acids Res. 16 (5): 2353. PMID 3357795.
Kurabayashi M, Komuro I, Tsuchimochi H, et al. (1988). "Molecular cloning and characterization of human atrial and ventricular myosin alkali light chain cDNA clones.". J. Biol. Chem. 263 (27): 13930–6. PMID 3417683.
Henry GD, Trayer IP, Brewer S, Levine BA (1985). "The widespread distribution of alpha-N-trimethylalanine as the N-terminal amino acid of light chains from vertebrate striated muscle myosins.". Eur. J. Biochem. 148 (1): 75–82. PMID 3979397.
Kovalyov LI, Shishkin SS, Efimochkin AS, et al. (1996). "The major protein expression profile and two-dimensional protein database of human heart.". Electrophoresis 16 (7): 1160–9. PMID 7498159.
Poetter K, Jiang H, Hassanzadeh S, et al. (1996). "Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.". Nat. Genet. 13 (1): 63–9. doi:10.1038/ng0596-63. PMID 8673105.
Takeuchi K, Senba S, Furukawa K, et al. (1999). "Localization of 17-kDa myosin light chain isoforms in cultured aortic smooth muscle cells.". J. Biochem. 125 (2): 334–42. PMID 9990131.
Andersen PS, Havndrup O, Bundgaard H, et al. (2002). "Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations.". J. Med. Genet. 38 (12): E43. PMID 11748309.
Olson TM, Karst ML, Whitby FG, Driscoll DJ (2002). "Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.". Circulation 105 (20): 2337–40. PMID 12021217.
Moretti A, Weig HJ, Ott T, et al. (2002). "Essential myosin light chain as a target for caspase-3 in failing myocardium.". Proc. Natl. Acad. Sci. U.S.A. 99 (18): 11860–5. doi:10.1073/pnas.182373099. PMID 12186978.
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. doi:10.1073/pnas.242603899. PMID 12477932.
Richard P, Charron P, Carrier L, et al. (2003). "Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.". Circulation 107 (17): 2227–32. doi:10.1161/01.CIR.0000066323.15244.54. PMID 12707239.
Xie B, Huang R, Huang L, et al. (2004). "The functional domains of human ventricular myosin light chain 1.". Biophys. Chem. 106 (1): 57–66. PMID 14516912.
Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMID 15342556.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.