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Aliases for MYL3 Gene

Aliases for MYL3 Gene

  • Myosin Light Chain 3 2 3 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, Familial Hypertrophic, 8 and Hypertrophic Cardiomyopathy. Among its related pathways are ERK Signaling and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Gene Ontology (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

Additional gene information for MYL3 Gene

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

Genomics for MYL3 Gene

GeneHancer (GH) Regulatory Elements for MYL3 Gene

Promoters and enhancers for MYL3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J046881 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 650.7 -0.4 -371 2.1 ZNF777 SUZ12 SIN3A ZNF335 GLIS2 ZBTB48 PATZ1 VEZF1 EZH2 ZBTB20 MYL3 PTH1R ENSG00000273682
GH03J046862 Promoter/Enhancer 1.2 EPDnew ENCODE dbSUPER 650.4 +18.1 18085 3.2 SP1 VEZF1 RCOR1 CHD2 GABPA ZBTB17 MYL3 PRSS45 TDGF1 PTH1R PRSS42
GH03J046844 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 12.8 +36.3 36288 2.6 SIN3A GLIS2 ZNF143 ZFP91 RUNX3 ZNF263 SP3 REST ZNF518A ZNF610 PRSS42 PRSS45 ALS2CL PTPN23 SETD2 PTH1R MYL3 BOLA2P2 PRSS44 PRSS50
GH03J046924 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -50.6 -50617 15.9 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 IRF4 YY1 ZNF766 NBEAL2 PTH1R CCDC12 MYL3 CSPG5 KLHL18 SETD2 ENSG00000273682 GC03P046964
GH03J046941 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -64.3 -64310 9.8 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YBX1 YY1 NBEAL2 CCDC12 PTH1R MYL3 SCAP KLHL18 CSPG5 LRRC2 PRSS45 SETD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYL3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYL3 gene promoter:
  • deltaCREB
  • CREB
  • p53
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for MYL3 Gene

Genomic Locations for MYL3 Gene
chr3:46,857,867-46,882,169
(GRCh38/hg38)
Size:
24,303 bases
Orientation:
Minus strand
chr3:46,899,357-46,923,659
(GRCh37/hg19)
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.

    Three dimensional structures from OCA and Proteopedia for MYL3 Gene

neXtProt entry for MYL3 Gene

Post-translational modifications for MYL3 Gene

Other Protein References for MYL3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYL3 Gene

Domains & Families for MYL3 Gene

Gene Families for MYL3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MYL3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYL3 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for MYL3 Gene

Function for MYL3 Gene

Molecular function for MYL3 Gene

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

Phenotypes From GWAS Catalog for MYL3 Gene

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
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYL3

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYL3 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
mitochondrion 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli (2)
See all subcellular structures

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

(4) Drugs for MYL3 Gene - From: HMDB, Tocris, and Novoseek

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

(2) Additional Compounds for MYL3 Gene - From: Tocris

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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYL3

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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

Evidence on tissue expression from TISSUES for MYL3 Gene

  • Heart(5)
  • Muscle(5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYL3 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
genes like me logo Genes that share expression patterns with MYL3: view

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 34
  • 100 (a)
OneToOne
LOC460327 33
  • 98.4 (n)
cow
(Bos Taurus)
Mammalia MYL3 34 33
  • 91.82 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Myl3 16 34 33
  • 91.3 (n)
oppossum
(Monodelphis domestica)
Mammalia MYL3 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYL3 34 33
  • 89.06 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myl3 33
  • 85.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYL3 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYL3 34 33
  • 77.64 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYL3 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myl3 33
  • 71.49 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:66286 33
  • 74.79 (n)
MYL3 34
  • 57 (a)
OneToOne
zgc66286 33
fruit fly
(Drosophila melanogaster)
Insecta Mlc-c 34 35
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mlc-6 34
  • 47 (a)
ManyToMany
mlc-5 34
  • 47 (a)
ManyToMany
T12D8.6 35
  • 46 (a)
mlc-3 34
  • 45 (a)
ManyToMany
mlc-7 34
  • 28 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MLC1 34
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.211 34
  • 57 (a)
ManyToMany
CSA.6288 34
  • 47 (a)
ManyToMany
CSA.4806 34
  • 46 (a)
ManyToMany
CSA.6678 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYL3: view image

Paralogs for MYL3 Gene

Paralogs for MYL3 Gene

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

  • MYL3_HUMAN
  • E9PGV7_HUMAN
  • Q14909_HUMAN
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 Variation AA Info Type
rs1042973 likely-benign, Hypertrophic cardiomyopathy 46,858,026(-) C/T 3_prime_UTR_variant
rs104893748 pathogenic, Familial hypertrophic cardiomyopathy 8, not provided, Hypertrophic cardiomyopathy, Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751] 46,859,511(-) T/C coding_sequence_variant, missense_variant
rs104893749 pathogenic, uncertain-significance, likely-pathogenic, Familial hypertrophic cardiomyopathy 8, not specified, Familial hypertrophic cardiomyopathy 1, Cardiovascular phenotype, Familial restrictive cardiomyopathy 1, Hypertrophic cardiomyopathy, Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751] 46,859,495(-) C/A/T coding_sequence_variant, missense_variant
rs104893750 pathogenic, uncertain-significance, likely-pathogenic, Familial hypertrophic cardiomyopathy 8, not specified, Hypertrophic cardiomyopathy, Cardiovascular phenotype, not provided, Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751] 46,859,529(-) C/T coding_sequence_variant, missense_variant
rs138567316 likely-benign, not specified, Hypertrophic cardiomyopathy 46,863,355(-) A/C/G coding_sequence_variant, missense_variant, synonymous_variant

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)

Additional Variant Information for MYL3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MYL3 Gene

MalaCards: The human disease database

(8) MalaCards diseases for MYL3 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- 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.

Additional Disease Information for MYL3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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) Møller DV … Køber L (European journal of human genetics : EJHG 2009) 3 22 44 58
  2. Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. (PMID: 12404107) Kabaeva ZT … Osterziel KJ (European journal of human genetics : EJHG 2002) 3 22 44 58
  3. Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. (PMID: 20359594) Girolami F … Olivotto I (Journal of the American College of Cardiology 2010) 3 44 58
  4. 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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Histologic characterization of hypertrophic cardiomyopathy with and without myofilament mutations. (PMID: 19853701) McLeod CJ … Ackerman MJ (American heart journal 2009) 3 44 58

Products for MYL3 Gene

Sources for MYL3 Gene

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