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Aliases for MYL3 Gene

Aliases for MYL3 Gene

  • Myosin Light Chain 3 2 3 5
  • Myosin, Light Polypeptide 3, Alkali; Ventricular, Skeletal, Slow 2 3
  • Myosin Light Chain 1, Slow-Twitch Muscle B/Ventricular Isoform 3 4
  • Myosin, Light Chain 3, Alkali; Ventricular, Skeletal, Slow 2 3
  • Ventricular/Slow Twitch Myosin Alkali Light Chain 3 4
  • Ventricular Myosin Alkali Light Chain 3 4
  • Ventricular Myosin Light Chain 1 3 4
  • Cardiac Myosin Light Chain 1 3 4
  • MLC-LV/Sb 3 4
  • MLC1SB 3 4
  • CMLC1 3 4
  • VLCl 3 4
  • MLC1V 3
  • CMH8 3
  • VLC1 3

External Ids for MYL3 Gene

Previous GeneCards Identifiers for MYL3 Gene

  • GC03P046253
  • GC03P046130
  • GC03M046696
  • GC03M046859
  • GC03M046874

Summaries for MYL3 Gene

Entrez Gene Summary for MYL3 Gene

  • 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]

GeneCards Summary for MYL3 Gene

MYL3 (Myosin Light Chain 3) is a Protein Coding gene. Diseases associated with MYL3 include Cardiomyopathy, Hypertrophic, 8 and Myl3-Related Familial Hypertrophic Cardiomyopathy. Among its related pathways are Activation of cAMP-Dependent PKA and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. GO annotations related to this gene include calcium ion binding and structural constituent of muscle. An important paralog of this gene is MYL4.

UniProtKB/Swiss-Prot for MYL3 Gene

  • Regulatory light chain of myosin. Does not bind calcium.

Tocris Summary for MYL3 Gene

  • Myosins are a large family of motor proteins that share the common features of ATP hydrolysis (ATPase enzyme activity), actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells, almost all eukaryotic cells are known to contain myosins.

Gene Wiki entry for MYL3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYL3 Gene

Genomics for MYL3 Gene

Regulatory Elements for MYL3 Gene

Enhancers for MYL3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F046848 0.9 Ensembl ENCODE 12.8 +33.0 33024 1.9 BCOR CTCF CBX3 PKNOX1 KLF1 ZNF792 TAL1 TEAD4 YBX1 RAD21 PRSS45 ALS2CL PTH1R MYL3 PRSS44 PRSS50 PRSS46 PRSS42
GH03F046844 1 Ensembl ENCODE 12.8 +36.3 36280 2.6 KLF17 NFXL1 RAD21 GLIS2 EGR2 ZNF263 SP3 REST ELF1 ZNF518A PRSS45 PRSS50 ALS2CL PTH1R MYL3 PRSS44 LRRC2 PRSS42
GH03F046924 1.1 FANTOM5 Ensembl ENCODE 11.5 -50.6 -50618 15.9 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 NBEAL2 PTH1R CCDC12 MYL3 XCR1 CSPG5 KLHL18 SETD2 ENSG00000273682 GC03P046964
GH03F046923 0.2 ENCODE 11.2 -41.5 -41517 0.2 HDGF CTCF ZNF223 ZNF48 ZNF2 RAD21 SCRT2 EED SMC3 SMARCA5 NBEAL2 CCDC12 MYL3 PTH1R ENSG00000273682 GC03P046964
GH03F046941 1.4 FANTOM5 Ensembl ENCODE 11.2 -69.6 -69610 20.4 HDGF PKNOX1 ARNT MLX CREB3L1 WRNIP1 ARID4B SIN3A YBX1 DMAP1 NBEAL2 CCDC12 PTH1R MYL3 SCAP KLHL18 PRSS45 CSPG5 LRRC2 SETD2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MYL3 on UCSC Golden Path with GeneCards custom track

Genomic Location for MYL3 Gene

Chromosome:
3
Start:
46,857,867 bp from pter
End:
46,882,169 bp from pter
Size:
24,303 bases
Orientation:
Minus strand

Genomic View for MYL3 Gene

Genes around MYL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYL3 Gene

Proteins for MYL3 Gene

  • Protein details for MYL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08590-MYL3_HUMAN
    Recommended name:
    Myosin light chain 3
    Protein Accession:
    P08590
    Secondary Accessions:
    • B2R534
    • Q9NRS8

    Protein attributes for MYL3 Gene

    Size:
    195 amino acids
    Molecular mass:
    21932 Da
    Quaternary structure:
    • Myosin is a hexamer of 2 heavy chains and 4 light chains.

neXtProt entry for MYL3 Gene

Post-translational modifications for MYL3 Gene

Other Protein References for MYL3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MYL3 Gene

Domains & Families for MYL3 Gene

Protein Domains for MYL3 Gene

Suggested Antigen Peptide Sequences for MYL3 Gene

Graphical View of Domain Structure for InterPro Entry

P08590

UniProtKB/Swiss-Prot:

MYL3_HUMAN :
  • Contains 3 EF-hand domains.
Domain:
  • Contains 3 EF-hand domains.
genes like me logo Genes that share domains with MYL3: view

Function for MYL3 Gene

Molecular function for MYL3 Gene

GENATLAS Biochemistry:
myosin,light polypeptide 3,alkali,essential,ventricular,skeletal,slow,same as MLC1-SB & MLC1-V
UniProtKB/Swiss-Prot Function:
Regulatory light chain of myosin. Does not bind calcium.

Gene Ontology (GO) - Molecular Function for MYL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003785 actin monomer binding IDA 16675844
GO:0005509 calcium ion binding IEA --
GO:0008307 structural constituent of muscle TAS 2789520
GO:0032038 myosin II heavy chain binding NAS 16675844
genes like me logo Genes that share ontologies with MYL3: view

Phenotypes for MYL3 Gene

genes like me logo Genes that share phenotypes with MYL3: view

Human Phenotype Ontology for MYL3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MYL3 Gene

Localization for MYL3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYL3 Gene COMPARTMENTS Subcellular localization image for MYL3 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MYL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005859 muscle myosin complex TAS 2789520
GO:0016459 myosin complex IEA --
GO:0030017 sarcomere TAS 16754800
GO:0031672 A band IDA 16675844
genes like me logo Genes that share ontologies with MYL3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYL3 Gene

Pathways & Interactions for MYL3 Gene

genes like me logo Genes that share pathways with MYL3: view

Gene Ontology (GO) - Biological Process for MYL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002026 regulation of the force of heart contraction IMP 16675844
GO:0006942 regulation of striated muscle contraction IMP 16675844
GO:0007519 skeletal muscle tissue development IEA --
GO:0030049 muscle filament sliding TAS --
GO:0032781 positive regulation of ATPase activity ISS 16675844
genes like me logo Genes that share ontologies with MYL3: view

No data available for SIGNOR curated interactions for MYL3 Gene

Drugs & Compounds for MYL3 Gene

(3) Drugs for MYL3 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
(R)-(+)-Blebbistatin Pharma non-muscle myosin II ATPases inhibitor, cell-permeable, Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) 0
BTS Pharma Selective inhibitor of skeletal muscle myosin II ATPase activity 0

(3) Additional Compounds for MYL3 Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Blebbistatin
674289-55-5
(S)-(-)-Blebbistatin
856925-71-8

(4) Tocris Compounds for MYL3 Gene

Compound Action Cas Number
(+-)-Blebbistatin Selective inhibitor of myosin II ATPase activity 674289-55-5
(R)-(+)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) 1177356-70-5
(S)-(-)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760) 856925-71-8
BTS Selective inhibitor of skeletal muscle myosin II ATPase activity 1576-37-0
genes like me logo Genes that share compounds with MYL3: view

Transcripts for MYL3 Gene

mRNA/cDNA for MYL3 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(425) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYL3 Gene

Myosin, light chain 3, alkali; ventricular, skeletal, slow:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYL3 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1:
SP2:
SP3:

Relevant External Links for MYL3 Gene

GeneLoc Exon Structure for
MYL3
ECgene alternative splicing isoforms for
MYL3

Expression for MYL3 Gene

mRNA expression in normal human tissues for MYL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYL3 Gene

This gene is overexpressed in Heart - Left Ventricle (x41.9) and Muscle - Skeletal (x8.1).

Protein differential expression in normal tissues from HIPED for MYL3 Gene

This gene is overexpressed in Heart (31.1), Esophagus (26.6), and Fetal heart (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MYL3 Gene



Protein tissue co-expression partners for MYL3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MYL3 Gene:

MYL3

SOURCE GeneReport for Unigene cluster for MYL3 Gene:

Hs.517939
genes like me logo Genes that share expression patterns with MYL3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for MYL3 Gene

Orthologs for MYL3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MYL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYL3 35
  • 100 (a)
OneToOne
LOC460327 34
  • 98.4 (n)
cow
(Bos Taurus)
Mammalia MYL3 34 35
  • 91.82 (n)
mouse
(Mus musculus)
Mammalia Myl3 34 16 35
  • 91.3 (n)
oppossum
(Monodelphis domestica)
Mammalia MYL3 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYL3 34 35
  • 89.06 (n)
rat
(Rattus norvegicus)
Mammalia Myl3 34
  • 85.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYL3 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYL3 34 35
  • 77.64 (n)
lizard
(Anolis carolinensis)
Reptilia MYL3 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myl3 34
  • 71.49 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:66286 34
  • 74.79 (n)
MYL3 35
  • 57 (a)
OneToOne
zgc66286 34
fruit fly
(Drosophila melanogaster)
Insecta Mlc-c 36 35
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea mlc-5 35
  • 47 (a)
ManyToMany
mlc-6 35
  • 47 (a)
ManyToMany
T12D8.6 36
  • 46 (a)
mlc-3 35
  • 45 (a)
ManyToMany
mlc-7 35
  • 28 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MLC1 35
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.211 35
  • 57 (a)
ManyToMany
CSA.6288 35
  • 47 (a)
ManyToMany
CSA.4806 35
  • 46 (a)
ManyToMany
CSA.6678 35
  • 45 (a)
ManyToMany
Species where no ortholog for MYL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYL3 Gene

ENSEMBL:
Gene Tree for MYL3 (if available)
TreeFam:
Gene Tree for MYL3 (if available)

Paralogs for MYL3 Gene

Paralogs for MYL3 Gene

(10) SIMAP similar genes for MYL3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MYL3: view

Variants for MYL3 Gene

Sequence variations from dbSNP and Humsavar for MYL3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs104893748 Pathogenic, Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751] 46,859,511(-) CTGTC(A/G)TGGGT reference, missense
rs104893749 Pathogenic, Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751] 46,859,495(-) GCTTC(A/G/T)CCACG reference, missense
rs104893750 Pathogenic, Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751] 46,859,529(-) ACAAG(A/G)AGGGC reference, missense
rs193922391 Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751], other 46,858,413(-) GCAAG(A/G)GGACT reference, missense
rs199474702 untested, Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751] 46,860,816(-) CAAGG(A/G)AGCCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MYL3 Gene

Variant ID Type Subtype PubMed ID
dgv8308n54 CNV loss 21841781
esv2759147 CNV loss 17122850
nsv428417 CNV loss 18775914
nsv508915 CNV insertion 20534489
nsv590204 CNV loss 21841781
nsv590207 CNV loss 21841781

Variation tolerance for MYL3 Gene

Residual Variation Intolerance Score: 30.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.29; 6.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYL3 Gene

Human Gene Mutation Database (HGMD)
MYL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYL3 Gene

Disorders for MYL3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for MYL3 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, hypertrophic, 8
  • hypertrophic cardiomyopathy 8
myl3-related familial hypertrophic cardiomyopathy
cardiomyopathy, familial hypertrophic
  • cardiomyopathy, hypertrophic, 1
cardiomyopathy
  • cardiomyopathies
atrial standstill, digenic
  • atrial cardiomyopathy with heart block
- elite association - COSMIC cancer census association via MalaCards
Search MYL3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYL3_HUMAN
  • Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751]: 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. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening. {ECO:0000269 PubMed:12021217, ECO:0000269 PubMed:12707239, ECO:0000269 PubMed:23594557, ECO:0000269 PubMed:8673105}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MYL3

Genetic Association Database (GAD)
MYL3
Human Genome Epidemiology (HuGE) Navigator
MYL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYL3
genes like me logo Genes that share disorders with MYL3: view

No data available for Genatlas for MYL3 Gene

Publications for MYL3 Gene

  1. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. (PMID: 19293840) MA … ber L. (Eur. J. Hum. Genet. 2009) 3 22 46 64
  2. Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. (PMID: 12404107) Kabaeva Z.T. … Osterziel K.J. (Eur. J. Hum. Genet. 2002) 3 22 46 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. (PMID: 20359594) Girolami F. … Olivotto I. (J. Am. Coll. Cardiol. 2010) 3 46 64
  5. Histologic characterization of hypertrophic cardiomyopathy with and without myofilament mutations. (PMID: 19853701) McLeod C.J. … Ackerman M.J. (Am. Heart J. 2009) 3 46 64

Products for MYL3 Gene

Sources for MYL3 Gene

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