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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 hypertrophic cardiomyopathy. Among its related pathways are cGMP-PKG signaling pathway and Cardiac muscle contraction. GO annotations related to this gene include calcium ion binding and structural constituent of muscle. An important paralog of this gene is MYL1.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for MYL3 Gene at MOPED

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

InterPro:
ProtoNet:

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 --
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

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 --
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:0006942 regulation of striated muscle contraction IMP 16675844
GO:0007519 skeletal muscle tissue development IEA --
GO:0030049 muscle filament sliding TAS --
GO:0060048 cardiac muscle contraction IMP 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

(1) Drugs for MYL3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Blebbistatin
674289-55-5
(R)-(+)-Blebbistatin
1177356-70-5
(S)-(-)-Blebbistatin
856925-71-8
ML 9 hydrochloride
105637-50-1
W-7 hydrochloride
61714-27-0

(5) 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
ML 9 hydrochloride Myosin light chain kinase inhibitor 105637-50-1
W-7 hydrochloride Calmodulin antagonist. Inhibits myosin light chain kinase 61714-27-0
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:

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, MOPED, and MaxQB for MYL3 Gene



SOURCE GeneReport for Unigene cluster for MYL3 Gene Hs.517939

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

Protein tissue co-expression partners for MYL3 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia MYL3 35
  • 91.82 (n)
  • 94.97 (a)
MYL3 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYL3 35
  • 89.06 (n)
  • 93.85 (a)
MYL3 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myl3 35
  • 91.3 (n)
  • 96.27 (a)
Myl3 16
Myl3 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC460327 35
  • 98.4 (n)
  • 97.95 (a)
MYL3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myl3 35
  • 85.47 (n)
  • 89.23 (a)
oppossum
(Monodelphis domestica)
Mammalia MYL3 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYL3 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYL3 35
  • 77.64 (n)
  • 85.71 (a)
MYL3 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYL3 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myl3 35
  • 71.49 (n)
  • 78.62 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc66286 35
zgc:66286 35
  • 74.79 (n)
  • 76.25 (a)
MYL3 36
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mlc-c 37
  • 48 (a)
Mlc-c 36
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T12D8.6 37
  • 46 (a)
mlc-3 36
  • 45 (a)
ManyToMany
mlc-5 36
  • 47 (a)
ManyToMany
mlc-6 36
  • 47 (a)
ManyToMany
mlc-7 36
  • 28 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MLC1 36
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.211 36
  • 57 (a)
ManyToMany
CSA.4806 36
  • 46 (a)
ManyToMany
CSA.6288 36
  • 47 (a)
ManyToMany
CSA.6678 36
  • 45 (a)
ManyToMany
Species with no ortholog for MYL3:
  • 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
VAR_004599 Cardiomyopathy, familial hypertrophic 8 (CMH8)
VAR_004600 Cardiomyopathy, familial hypertrophic 8 (CMH8)
VAR_019842 Cardiomyopathy, familial hypertrophic 8 (CMH8)
VAR_019843 Cardiomyopathy, familial hypertrophic 8 (CMH8)
rs1042407 -- 46,863,414(-) CACAT(C/G)CCTCT utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv1455e1 CNV Complex 17122850
nsv428417 CNV Loss 18775914
essv8614 CNV CNV 17122850
nsv508915 CNV Insertion 20534489
dgv5130n71 CNV Loss 21882294
nsv876754 CNV Gain 21882294
nsv876755 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
MYL3
Human Gene Mutation Database (HGMD)
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
  • cardiomyopathy, familial hypertrophic, 8
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
cardiomyopathy, familial hypertrophic
  • cardiomyopathy, hypertrophic, 1
cardiomyopathy
  • cardiomyopathies
myl3-related familial hypertrophic cardiomyopathy
- 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. 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 23 48 67
  2. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. (PMID: 19293840) MA … ber L. (Eur. J. Hum. Genet. 2009) 3 23
  3. Minigenes encoding N-terminal domains of human cardiac myosin light chain-1 improve heart function of transgenic rats. (PMID: 16675844) Haase H. … Morano I. (FASEB J. 2006) 3 23
  4. Analysis of the upstream regulatory region of human ventricular myosin light chain 1 gene. (PMID: 1479618) Shi Q. … Jackowski G. (J. Mol. Cell. Cardiol. 1992) 2 3
  5. Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4). (PMID: 2784124) Cohen-Haguenauer O. … FrAczal J. (Hum. Genet. 1989) 2 3

Products for MYL3 Gene

Sources for MYL3 Gene

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