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Aliases & Descriptions for MYL3
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| CMH8 1, 2, 5 | | CMLC1 3 | | MLC1SB 1, 2, 3 | | MLC1V 1, 2 | | OTTHUMP00000165922 2 | | VLC1 1, 2 |
| | | Descriptions |
|---|
| Cardiac myosin light chain-1 3 | Myosin light chain 1, slow-twitch muscle B/ventricular isoform 3 | | Ventricular/slow twitch myosin alkali light chain 3 | | myosin, light chain 3, alkali; ventricular, skeletal, slow 2 | myosin, light polypeptide 3, alkali; ventricular, skeletal, slow 1, 2 | | slow skeletal ventricular myosin alkali light chain 3 2 |
|
| | Search outside databases for aliases for MYL3 genePrevious GC identifers: GC03P046253 GC03P046130 GC03M046696 GC03M046859 |
Summaries for MYL3(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for MYL3: 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] UniProtKB/Swiss-Prot: MYL3_HUMAN, P08590Function: Regulatory light chain of myosin. Does not bind calciumGene Wiki entry for MYL3 |
Genomic Location for MYL3
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the MYL3 gene 
Entrez Gene cytogenetic band: 3p21.3-p21.2 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3pMYL3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M046874:
(about GC identifiers)
Start:
|
46,874,361 bp from pter |
End:
|
46,879,977 bp from pter |
Size:
|
5,617 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000003.10 NT_022517.17
| Proteins for MYL3
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: MYL3_HUMAN, P08590 (See
protein sequence)Recommended Name: Myosin light chain 3 Size: 195 amino acids; 21932 Da
Subunit: Myosin is an hexamer of 2 heavy chains and 4 light chains
Secondary accessions: Q9NRS8Post-translational modifications:
The N-terminus is blocked1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000249.1
ENSEMBL proteins: ENSP00000379210 ENSP00000292327
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: MYL3 
4 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for MYL3: Assays for MYL3: | Protein
Domains/ Families for MYL3(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P08590
ProtoNet protein and cluster: P08590 UniProtKB/Swiss-Prot: MYL3_HUMAN, P08590Similarity: Contains 3 EF-hand domains | Gene Function for MYL3
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000258
Applied Biosystems Silencer® siRNAs for MYL3
Sigma-Aldrich siRNA and siRNA Panels for MYL3  Sigma-Aldrich shRNA for MYL3  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000258                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000258                                  untagged cDNA clone in CMV expression vector: NM_000258 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000258
UniProtKB/Swiss-Prot: MYL3_HUMAN, P08590Function: Regulatory light chain of myosin. Does not bind calciumGenatlas biochemistry entry for MYL3:myosin,light polypeptide 3,alkali,essential,ventricular,skeletal,slow,same as MLC1-SB & MLC1-V5 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for MYL3
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
5/10 Sigma-Aldrich "Your Favorite Gene" Pathways for MYL3 (Your Favorite Gene powered by Ingenuity) (see all 10
) 
5/44 Interacting proteins for MYL3 (P085902 ENSP000002923273) via UniProtKB, MINT, and/or STRING (see all 44
)About this table
5 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for MYL3(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Compounds for MYL3 available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| (±)-Blebbistatin | Selective inhibitor of myosin II | [674289-55-5] | About this table
|
Transcripts for MYL3(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000258
Sigma-Aldrich siRNA and siRNA Panels for MYL3  Sigma-Aldrich shRNA for MYL3  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000258 REFSEQ mRNAs for MYL3 gene: NM_000258.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000258               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000258                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000258                                  untagged cDNA clone in CMV expression vector: NM_000258  Additional cDNA sequence: AF174483.1 AK312044.1 BC009790.1 M24122.1 X07373.1 9 DOTS entries: DT.319748 DT.101985513 DT.101985514 DT.92422207 DT.100814176 DT.92422204 DT.95338064 DT.100814172 DT.92422209 24/425 AceView cDNA sequences (see all 425
):C05510 BX500406 AJ573065 AI370949 C05582 AJ573201 AJ708945 F31045 C05498 C05446 F30807 AJ572719 AJ706808 C05527 F36131 F23440 AI313433 AA346021 F25471 F25146 F26941 BC009790 AA176823 C05486
highest scoring ESTs for MYL3:M24122 AA092797 AA093113 AA247261 AA248238 AA248641 AA248731 AA249211 AA314109 AA346021 Unigene Cluster for MYL3: Myosin, light chain 3, alkali; ventricular, skeletal, slow Hs.517939 [show with all ESTs]Unigene Representative Sequence: BC009790
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for MYL3
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for MYL3
2 Ensembl transcripts including schematic representations: ENST00000395869
ENST00000292327
|
Expression for MYL3
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| MYL3 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for MYL3
1 / 2 / 3 5 probe-sets matching MYL3 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.517939
Expression variation in blood from EXPOLDB for MYL3 |
Orthologs for MYL3
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for MYL3 gene from 5/8 species (see all 8
)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
MYL31 |
-- |
myosin, light chain 3, alkali; ventricular, skeletal, more |
88.72(n) 94.87(a) |
476644 XM_533849.2 XP_533849.1 |
cow (Bos taurus) |
MYL31 |
-- |
myosin, light chain 3, alkali; ventricular, skeletal, more |
87.06(n) 87.65(a) |
618352 NM_001076501.1 NP_001069969.1 |
rat (Rattus norvegicus) |
Myl31 |
-- |
myosin, light chain 3, alkali; ventricular, skeletal, more |
89.23(n) 95.9(a) |
24585 NM_012606.1 NP_036738.1 |
mouse (Mus musculus) |
Myl31, 5 |
9 (61.00 cM)5
|
myosin, light polypeptide 31, 5 |
90.94(n)1 95.9(a)1 |
178971 NM_010859.21 NP_034989.11 AI4498585 AK0023125 (see all 11) |
chicken (Gallus gallus) |
MYL31 |
-- |
myosin, light chain 3, alkali; ventricular, skeletal, more |
75.52(n) 82.81(a) |
396067 NM_205159.1 NP_990490.1 |
About this table Species with no ortholog for MYL3
ENSEMBL Gene Tree for MYL3 | Paralogs for MYL3(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for MYL3 gene
- MYL42 MYL12
|
SNPs/Variants for MYL3(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for MYL3 (up to first 250kb)
|
Disorders & Mutations for MYL3
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 160790 disorders: 608751 UniProtKB/Swiss-Prot: MYL3_HUMAN, P08590
Defects in MYL3 are the cause of cardiomyopathy familial hypertrophic type 8 (CMH8) [MIM:608751]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH8 inheritance can be autosomal dominant or recessive Defects in MYL3 are the cause of cardiomyopathy hypertrophic with mid-left ventricular chamber type 1 (MVC1) [MIM:608751]. MVC1 is a very rare variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening3 Novoseek disease relationships for MYL3 gene
About this table
GeneTests: MYL3 Familial Hypertrophic Cardiomyopathy Human Gene Mutation Database: MYL3 Genetic Association Database: MYL3 Human Genome Epidemiology Navigator: MYL3 (7 documents)
|
Medical News for MYL3(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for MYL3 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/42 PubMed articles for MYL3 gene (see all 42
):- Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. (PubMed id 12404107)1, 3, 6 Kabaeva Z.T.... Osterziel K.J. (2002)
- Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. (PubMed id 16199542)3, 6 Ingles J.... Semsarian C. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. (PubMed id 12707239)3, 4 Richard P....Komajda M. (2003)
- Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. (PubMed id 12021217)3, 4 Olson T.M.... Driscoll D.J. (2002)
- Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. (PubMed id 8673105)3, 4 Poetter K.... Epstein N.D. (1996)
- The major protein expression profile and two-dimensional protein database of human heart. (PubMed id 7498159)3, 4 Kovalyov L.I.... Musalyamov A.K. (1995)
- Analysis of the upstream regulatory region of human ventricular myosin light chain 1 gene. (PubMed id 1479618)2, 3 Shi Q.... Jackowski G. (1992)
- Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4). (PubMed id 2784124)2, 3 Cohen-Haguenauer O....Frezal J. (1989)
- Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location. (PubMed id 2789520)3, 4 Fodor W.L....Vanin E.F. (1989)
|
Search for MYL3
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
| | AND | OR |
|
| |
Query String |
|
PubMed
OMIM
NCBI Bookshelf
|
| |
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Genome Databases showing MYL3
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing MYL3
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MYL3(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| ATLAS Chromosomes in Cancer entry for MYL3 | Genetics and Cytogenetics in Oncology and Haematology | | Familial hypertrophic cardiomyopathy mutation database | http://www.angis.org.au/Databases/Heart/heartbreak.html | | GeneReviews | http://www.genetests.org/query?gene=MYL3 |
|
| | | About This Section
| --
| Services for MYL3(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for MYL3:

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| | | | Tocris compounds for MYL3 |
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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009
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