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MYL3 cDNA ORF clone, Homo sapiens(Human)

Gene Symbol MYL3
Entrez Gene ID 4634
Full Name myosin light chain 3
Synonyms CMH8,MLC-lV/sb,MLC1SB,MLC1V,VLC1,VLCl
General protein information
Preferred Names

myosin light chain 3

Names

myosin light chain 3
CMLC1
cardiac myosin light chain 1
myosin light chain 1, slow-twitch muscle B/ventricular isoform
myosin, light chain 3, alkali; ventricular, skeletal, slow
myosin, light polypeptide 3, alkali; ventricular, skeletal, slow
ventricular myosin alkali light chain
ventricular myosin light chain 1
ventricular/slow twitch myosin alkali light chain

Gene Type protein-coding
Organism Homo sapiens(Human)
Genome

3

3p21.31

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].
Disorder MIM:

160790

Disorder Html: Cardiomyopathy, familial hypertrophic, 8, 608751 (3)

mRNA and Protein(s)

mRNA Protein Name
NM_000258.2 NP_000249.1 myosin light chain 3



Mus musculus (house mouse) Myl3 NP_034989.1
Homo sapiens (human) MYL3 NP_000249.1
Gallus gallus (chicken) MYL3 NP_990490.1
Macaca mulatta (rhesus monkey) MYL3 XP_001113910.1
Pan troglodytes (chimpanzee) LOC460327 XP_003309811.2
Bos taurus (cattle) MYL3 NP_001069969.2
Danio rerio (zebrafish) zgc:66286 NP_956810.1
Xenopus tropicalis (tropical clawed frog) myl3 NP_989012.1
Canis lupus familiaris (dog) MYL3 XP_005632679.1
Rattus norvegicus (Norway rat) Myl3 NP_036738.1


Related articles in PubMed

Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.
Nomura A, Tada H, Teramoto R, Konno T, Hodatsu A, Won HH, Kathiresan S, Ino H, Fujino N, Yamagishi M, Hayashi K
Journal of cardiology67(2)133-9(2016 Feb)

Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.
Caleshu C, Sakhuja R, Nussbaum RL, Schiller NB, Ursell PC, Eng C, De Marco T, McGlothlin D, Burchard EG, Rame JE
American journal of medical genetics. Part A155A(9)2229-35(2011 Sep)

Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S,
Diabetes care33(10)2250-3(2010 Oct)

Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
Girolami F, Ho CY, Semsarian C, Baldi M, Will ML, Baldini K, Torricelli F, Yeates L, Cecchi F, Ackerman MJ, Olivotto I
Journal of the American College of Cardiology55(14)1444-53(2010 Apr)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

In Familial Hypertrophic Cardiomyopathy, the MYL3 Arg94His variant was associated with high disease penetrance and substantial interventricular septal hypertrophy
Title: Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.

This is the first report of mutations in TPM1, MY L3, and MYL2 associated with primary, non-hypertrophied restrictive cardiomyopathy.
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.

Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
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.

Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.

Observational study of gene-disease association. (HuGE Navigator)
Title: Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.

The following MYL3 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the MYL3 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu18259 NM_000258.2
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Homo sapiens myosin light chain 3 (MYL3), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu18259
Clone ID Related Accession (Same CDS sequence) NM_000258.2
Accession Version NM_000258.2 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 588bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2017-04-28
Organism Homo sapiens(Human)
Product myosin light chain 3
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BP316922.1 and AJ709328.1. This sequence is a reference standard in the RefSeqGene project. On Oct 4, 2006 this sequence version replaced NM_000258.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: ERR279837.7863.1, ERR279868.2305.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2154361, SAMN03267751 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
ATGGCCCCCA AAAAGCCAGA GCCCAAGAAG GATGATGCCA AGGCAGCCCC CAAGGCAGCT 
CCAGCTCCCG CACCTCCCCC TGAGCCTGAG CGCCCTAAGG AGGTCGAGTT TGATGCTTCC
AAGATCAAGA TTGAGTTCAC ACCTGAGCAG ATTGAAGAGT TCAAGGAAGC CTTCATGCTG
TTCGACCGCA CACCCAAGTG TGAGATGAAG ATCACCTACG GGCAGTGTGG GGATGTCCTG
CGGGCGCTGG GCCAGAACCC CACACAGGCA GAAGTGCTCC GTGTCCTGGG GAAGCCAAGA
CAGGAAGAGC TCAATACCAA GATGATGGAC TTTGAAACTT TCCTGCCTAT GCTCCAGCAC
ATTTCCAAGA ACAAGGACAC AGGCACCTAT GAGGACTTCG TGGAGGGGCT GCGGGTCTTC
GACAAGGAGG GCAATGGCAC TGTCATGGGT GCTGAGCTTC GCCACGTGCT GGCCACGCTG
GGTGAGAGGC TGACAGAAGA CGAAGTGGAG AAGTTGATGG CTGGGCAAGA GGACTCCAAT
GGCTGCATCA ACTATGAAGC ATTTGTGAAG CACATCATGT CCAGCTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_000249.1
CDS94..681
Misc Feature(1)25..27
Misc Feature(2)97..99
Misc Feature(3)223..675
Misc Feature(4)307..309
Misc Feature(5)355..357
Misc Feature(6)472..474
Misc Feature(7)478..480
Misc Feature(8)481..483
Misc Feature(9)487..672
Misc Feature(10)496..498
Misc Feature(11)order(514..516,520..522,526..528,547..549,619..621,625..627,631..633,652..654)
Misc Feature(12)628..630
Exon (1)1..222
Exon (2)223..250
Exon (3)251..400
Exon (4)401..574
Exon (5)575..652
Exon (6)653..694
Exon (7)695..929
Translation

Target ORF information:

RefSeq Version NM_000258.2
Organism Homo sapiens(Human)
Definition Homo sapiens myosin light chain 3 (MYL3), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000258.2

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
ATGGCCCCCA AAAAGCCAGA GCCCAAGAAG GATGATGCCA AGGCAGCCCC CAAGGCAGCT 
CCAGCTCCCG CACCTCCCCC TGAGCCTGAG CGCCCTAAGG AGGTCGAGTT TGATGCTTCC
AAGATCAAGA TTGAGTTCAC ACCTGAGCAG ATTGAAGAGT TCAAGGAAGC CTTCATGCTG
TTCGACCGCA CACCCAAGTG TGAGATGAAG ATCACCTACG GGCAGTGTGG GGATGTCCTG
CGGGCGCTGG GCCAGAACCC CACACAGGCA GAAGTGCTCC GTGTCCTGGG GAAGCCAAGA
CAGGAAGAGC TCAATACCAA GATGATGGAC TTTGAAACTT TCCTGCCTAT GCTCCAGCAC
ATTTCCAAGA ACAAGGACAC AGGCACCTAT GAGGACTTCG TGGAGGGGCT GCGGGTCTTC
GACAAGGAGG GCAATGGCAC TGTCATGGGT GCTGAGCTTC GCCACGTGCT GGCCACGCTG
GGTGAGAGGC TGACAGAAGA CGAAGTGGAG AAGTTGATGG CTGGGCAAGA GGACTCCAAT
GGCTGCATCA ACTATGAAGC ATTTGTGAAG CACATCATGT CCAGCTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.
Journal of cardiology67(2)133-9(2016 Feb)
Nomura A,Tada H,Teramoto R,Konno T,Hodatsu A,Won HH,Kathiresan S,Ino H,Fujino N,Yamagishi M,Hayashi K


book

Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.
American journal of medical genetics. Part A155A(9)2229-35(2011 Sep)
Caleshu C,Sakhuja R,Nussbaum RL,Schiller NB,Ursell PC,Eng C,De Marco T,McGlothlin D,Burchard EG,Rame JE


book

Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Diabetes care33(10)2250-3(2010 Oct)
Bailey SD,Xie C,Do R,Montpetit A,Diaz R,Mohan V,Keavney B,Yusuf S,Gerstein HC,Engert JC,Anand S,


book

Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
Journal of the American College of Cardiology55(14)1444-53(2010 Apr)
Girolami F,Ho CY,Semsarian C,Baldi M,Will ML,Baldini K,Torricelli F,Yeates L,Cecchi F,Ackerman MJ,Olivotto I


 
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