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Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000258 Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

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RefSeq Version NM_000258.2, 115527085
Length 942 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.
Product myosin light chain 3
Comment

Summary: 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. [provided by RefSeq, Jul 2008].

RefSeq NP_000249.1
CDS 94..681
Misc Feature(1)25..27
Misc Feature(2)25..27
Misc Feature(3)223..675
Misc Feature(4)223..675
Misc Feature(5)487..672
Misc Feature(6)496..498
Misc Feature(7)order(514..516,520..522,526..528,547..549,619..621,
Exon (1)1..222
Gene:MYL3
Gene Synonym:CMH8; MLC1SB; MLC1V; VLC1
Exon (2)223..250
Gene:MYL3
Gene Synonym:CMH8; MLC1SB; MLC1V; VLC1
Exon (3)251..400
Gene:MYL3
Gene Synonym:CMH8; MLC1SB; MLC1V; VLC1
Exon (4)401..574
Gene:MYL3
Gene Synonym:CMH8; MLC1SB; MLC1V; VLC1
Exon (5)575..652
Gene:MYL3
Gene Synonym:CMH8; MLC1SB; MLC1V; VLC1
Exon (6)653..694
Gene:MYL3
Gene Synonym:CMH8; MLC1SB; MLC1V; VLC1
Exon (7)695..929
Gene:MYL3
Gene Synonym:CMH8; MLC1SB; MLC1V; VLC1
Translation MAPKKPEPKKDDAKAAPKAAPAPAPPPEPERPKEVEFDASKIKIEFTPEQIEEFKEAFML FDRTPKCEMKITYGQCGDVLRALGQNPTQAEVLRVLGKPRQEELNTKMMDFETFLPMLQH ISKNKDTGTYEDFVEGLRVFDKEGNGTVMGAELRHVLATLGERLTEDEVEKLMAGQEDSN GCINYEAFVKHIMSS
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Position Chain Variation Link
complement(67)-g, adbSNP:201910884
complement(70)-g, cdbSNP:1042407
complement(97)-g, cdbSNP:148310342
complement(129)-g, adbSNP:138567316
complement(148)-c, adbSNP:141778691
complement(162)-t, cdbSNP:2233264
complement(174)-g, adbSNP:147584015
complement(185)-t, cdbSNP:199639940
complement(260)-dbSNP:
complement(260)-g, adbSNP:199474702
complement(263)-g, c, adbSNP:139794067
complement(281)-t, cdbSNP:139354105
complement(315)-t, cdbSNP:144543453
complement(328)-t, cdbSNP:150634297
complement(374)-g, adbSNP:199474703
complement(475)-dbSNP:
complement(475)-t, gdbSNP:199474704
complement(492)-g, adbSNP:112992334
complement(504)-t, gdbSNP:2233265
complement(513)-g, adbSNP:201138698
complement(520)-g, adbSNP:104893750
complement(538)-g, adbSNP:104893748
complement(539)-g, adbSNP:202141423
complement(547)-g, adbSNP:199474705
complement(553)-g, adbSNP:143852164
complement(554)-g, adbSNP:104893749
complement(556)-g, cdbSNP:199474706
complement(558)-g, adbSNP:147125759
complement(559)-g, adbSNP:199474707
complement(570)-t, c, adbSNP:148365503
complement(610)-dbSNP:
complement(610)-g, adbSNP:199474708
complement(623)-g, adbSNP:193922391
complement(625)-t, cdbSNP:145520567
complement(645)-g, adbSNP:140829951
complement(689)-dbSNP:
complement(689)-t, cdbSNP:201092907
complement(690)-g, adbSNP:202234617
complement(708)-dbSNP:
complement(708)-g, adbSNP:199474710
complement(770)-g, adbSNP:1042973
Gene SymbolMYL3
Gene SynonymCMH8; MLC1SB; MLC1V; VLC1
Chromosome3
Locus Map3p21.3-p21.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000258 Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA. In-stock $308.00 $259.00 10
Title Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy .
Author Caleshu,C., Sakhuja,R., Nussbaum,R.L., Schiller,N.B., Ursell,P.C., Eng,C., De Marco,T., McGlothlin,D., Burchard,E.G. and Rame,J.E.
Journal Am. J. Med. Genet. A 155A (9), 2229-2235 (2011)
Title Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study .
Author Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
Journal Diabetes Care 33 (10), 2250-2253 (2010)
Title Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations .
Author Girolami,F., Ho,C.Y., Semsarian,C., Baldi,M., Will,M.L., Baldini,K., Torricelli,F., Yeates,L., Cecchi,F., Ackerman,M.J. and Olivotto,I.
Journal J. Am. Coll. Cardiol. 55 (14), 1444-1453 (2010)
Title Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip .
Author Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C., Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R., Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A., Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C., Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S., Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N., Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
Journal Am. J. Hum. Genet. 85 (5), 628-642 (2009)
Title Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy .
Author Kaski,J.P., Syrris,P., Esteban,M.T., Jenkins,S., Pantazis,A., Deanfield,J.E., McKenna,W.J. and Elliott,P.M.
Journal Circ Cardiovasc Genet 2 (5), 436-441 (2009)
Title Analysis of the upstream regulatory region of human ventricular myosin light chain 1 gene .
Author Shi,Q., Li,R.K., Mickle,D.A. and Jackowski,G.
Journal J. Mol. Cell. Cardiol. 24 (11), 1221-1229 (1992)
Title Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location .
Author Fodor,W.L., Darras,B., Seharaseyon,J., Falkenthal,S., Francke,U. and Vanin,E.F.
Journal J. Biol. Chem. 264 (4), 2143-2149 (1989)
Title Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4) .
Author Cohen-Haguenauer,O., Barton,P.J., Van Cong,N., Cohen,A., Masset,M., Buckingham,M. and Frezal,J.
Journal Hum. Genet. 81 (3), 278-282 (1989)
Title Chromosomal rearrangement generating a composite gene for a developmental transcription factor .
Author Stragier,P., Kunkel,B., Kroos,L. and Losick,R.
Journal Science 243 (4890), 507-512 (1989)
Title Molecular cloning and complete nucleotide sequence of a human ventricular myosin light chain 1 .
Author Hoffmann,E., Shi,Q.W., Floroff,M., Mickle,D.A., Wu,T.W., Olley,P.M. and Jackowski,G.
Journal Nucleic Acids Res. 16 (5), 2353 (1988)


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