MYL5 Gene (Protein Coding)

Myosin Light Chain 5

GC04P000673
GIFtS:
37
This gene encodes one of the myosin light chains, a component of the hexameric ATPase cellular motor protein myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene product, one of the regulatory light chains, is expressed in fetal muscle and in adult retina, cerebellum, and basal g... See more...

Aliases for MYL5 Gene

Aliases for MYL5 Gene

  • Myosin Light Chain 5 2 3 4 5
  • Superfast Myosin Regulatory Light Chain 2 3 4
  • Myosin, Light Polypeptide 5, Regulatory 2 3
  • Myosin, Light Chain 5, Regulatory 2 3
  • Myosin Regulatory Light Chain 5 3 4
  • MYLC2 3 4
  • MyLC-2 4
  • MYL5 5

External Ids for MYL5 Gene

Previous GeneCards Identifiers for MYL5 Gene

  • GC04P000677
  • GC04P000658
  • GC04P000661

Summaries for MYL5 Gene

Entrez Gene Summary for MYL5 Gene

  • This gene encodes one of the myosin light chains, a component of the hexameric ATPase cellular motor protein myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene product, one of the regulatory light chains, is expressed in fetal muscle and in adult retina, cerebellum, and basal ganglia. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYL5 Gene

MYL5 (Myosin Light Chain 5) is a Protein Coding gene. Diseases associated with MYL5 include Primary Cutaneous Amyloidosis and Myopathy, Centronuclear, 2. Among its related pathways are Immune response CCR3 signaling in eosinophils 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 MYL10.

Tocris Summary for MYL5 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.

Additional gene information for MYL5 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYL5 Gene

Genomics for MYL5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MYL5 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
GH04J000673 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +3.9 3921 9.4 BCLAF1 SP1 ZNF207 MYC ZNF600 JUND ZNF580 ZNF592 ATF2 KLF9 ATP5ME MYL5 PCGF3 PIGG UVSSA ENSG00000272588 ZNF718 GAK IDUA SLC49A3
GH04J000698 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 8 +26.3 26321 3 SP1 NCOR1 CEBPA BCL11A REST CEBPB KLF11 TRIM22 ZFP64 NR2C1 hsa-miR-5095-363 PCGF3 MYL5 PDE6B-AS1 ABCA11P GAK SLC49A3 HSALNG0032175 LOC107986245
GH04J000617 Enhancer 0.8 Ensembl ENCODE 12.4 -55.8 -55779 0.8 ZNF217 CTBP1 MLLT1 SIN3A JUND ZBTB40 MAZ DPF2 FOS ESRRA MYL5 ATP5ME PDE6B-AS1 HSALNG0032159 PDE6B LOC105374338
GH04J000749 Enhancer 0.8 Ensembl ENCODE dbSUPER 8 +77.8 77759 3.6 ZNF316 GLIS2 ZSCAN5C EMSY lnc-CPLX1-11 lnc-MYL5-3 PCGF3 MYL5 CPLX1
GH04J000833 Enhancer 0.7 Ensembl ENCODE 7.9 +161.5 161520 2.2 NFIC EGR1 NFIA GATA2 KLF1 ZBTB8A HNRNPL MAFK PCGF3 MYL5 CPLX1 GAK DGKQ ENSG00000260262 HSALNG0032195
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYL5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYL5

Top Transcription factor binding sites by QIAGEN in the MYL5 gene promoter:
  • AML1a
  • ATF-2
  • ATF6
  • HEN1
  • NF-1
  • NF-1/L
  • POU2F1
  • SRF
  • SRF (504 AA)
  • YY1

Genomic Locations for MYL5 Gene

Latest Assembly
chr4:673,580-682,033
(GRCh38/hg38)
Size:
8,454 bases
Orientation:
Plus strand

Previous Assembly
chr4:668,331-675,817
(GRCh37/hg19 by Entrez Gene)
Size:
7,487 bases
Orientation:
Plus strand

chr4:667,369-675,822
(GRCh37/hg19 by Ensembl)
Size:
8,454 bases
Orientation:
Plus strand

Genomic View for MYL5 Gene

Genes around MYL5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYL5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYL5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MYL5 Gene

Proteins for MYL5 Gene

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  • Protein details for MYL5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02045-MYL5_HUMAN
    Recommended name:
    Myosin light chain 5
    Protein Accession:
    Q02045
    Secondary Accessions:
    • Q8IXL8

    Protein attributes for MYL5 Gene

    Size:
    173 amino acids
    Molecular mass:
    19534 Da
    Quaternary structure:
    • Myosin is a hexamer of 2 heavy chains and 4 light chains.
    Miscellaneous:
    • This chain binds calcium.

    Alternative splice isoforms for MYL5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYL5 Gene

Protein Expression for MYL5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MYL5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYL5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYL5 Gene

Domains & Families for MYL5 Gene

Gene Families for MYL5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MYL5 Gene

InterPro:

Suggested Antigen Peptide Sequences for MYL5 Gene

GenScript: Design optimal peptide antigens:
  • Superfast myosin regulatory light chain 2 (MYL5_HUMAN)
genes like me logo Genes that share domains with MYL5: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MYL5 Gene

Function for MYL5 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for MYL5 Gene

GENATLAS Biochemistry:
myosin,light polypeptide 5,regulatory

Phenotypes From GWAS Catalog for MYL5 Gene

Gene Ontology (GO) - Molecular Function for MYL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0008307 structural constituent of muscle TAS 1284596
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MYL5: view
genes like me logo Genes that share phenotypes with MYL5: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYL5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MYL5 Gene

Localization for MYL5 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 MYL5 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
mitochondrion 3
nucleus 3
plasma membrane 2
extracellular 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005859 muscle myosin complex TAS 1284596
GO:0016459 myosin complex IEA --
genes like me logo Genes that share ontologies with MYL5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYL5 Gene

Pathways & Interactions for MYL5 Gene

PathCards logo

SuperPathways for MYL5 Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
Activation of PKA through GPCR
.71
PKA Signaling
.56
2 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
Cell adhesion Integrin-mediated cell adhesion and migration
.49
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
Development MAG-dependent inhibition of neurite outgrowth
.42
Cell adhesion Tight junctions
.32
3 PAK Pathway
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
Epithelial Adherens Junctions
.36
4 Actin Nucleation by ARP-WASP Complex
Actin Nucleation by ARP-WASP Complex
.66
RhoA Pathway
.35
5 RhoGDI Pathway
Fc-GammaR-Mediated Phagocytosis in Macrophages
.33
RhoGDI Pathway
.33
genes like me logo Genes that share pathways with MYL5: view

Pathways by source for MYL5 Gene

2 Reactome pathways for MYL5 Gene
6 GeneGo (Thomson Reuters) pathways for MYL5 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cell adhesion Tight junctions
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Development MAG-dependent inhibition of neurite outgrowth
  • Immune response CCR3 signaling in eosinophils
16 Qiagen pathways for MYL5 Gene
  • Actin Nucleation by ARP-WASP Complex
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Antioxidant Action of Vitamin-C
  • cAMP Pathway

Gene Ontology (GO) - Biological Process for MYL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS --
GO:0006937 regulation of muscle contraction TAS 1284596
genes like me logo Genes that share ontologies with MYL5: view

No data available for SIGNOR curated interactions for MYL5 Gene

Drugs & Compounds for MYL5 Gene

Products:

  1. Drug products for research

(3) Drugs for MYL5 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959
(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 MYL5 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 MYL5 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 MYL5: view

Transcripts for MYL5 Gene

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mRNA/cDNA for MYL5 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYL5

Alternative Splicing Database (ASD) splice patterns (SP) for MYL5 Gene

No ASD Table

Relevant External Links for MYL5 Gene

GeneLoc Exon Structure for
MYL5

Expression for MYL5 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYL5 Gene

mRNA expression in normal human tissues for MYL5 Gene
mRNA expression by BioGPS for MYL5 GenemRNA expression by GTEx for MYL5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MYL5 Gene

This gene is overexpressed in Heart (48.4) and Fetal heart (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MYL5 Gene



Protein tissue co-expression partners for MYL5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYL5

SOURCE GeneReport for Unigene cluster for MYL5 Gene:

Hs.410970

mRNA Expression by UniProt/SwissProt for MYL5 Gene:

Q02045-MYL5_HUMAN
Tissue specificity: Expressed in fetal skeletal muscle and retina.

Evidence on tissue expression from TISSUES for MYL5 Gene

  • Heart(3.2)
  • Muscle(2.9)
  • Blood(2.2)
  • Skin(2.1)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with MYL5: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYL5 Gene

Orthologs for MYL5 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYL5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MYL5 29 30
  • 99.29 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia MYL5 30
  • 95 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MYL5 29 30
  • 90.56 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MYL5 30
  • 89 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MYL5 30
  • 87 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii CABZ01076669.1 30
  • 66 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea mlc-1 31
  • 51 (a)
mlc-2 31
  • 51 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.11077 30
  • 62 (a)
 ManyToMany
CSA.10194 30
  • 61 (a)
 ManyToMany
Species where no ortholog for MYL5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for MYL5 Gene

ENSEMBL:
Gene Tree for MYL5 (if available)
TreeFam:
Gene Tree for MYL5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYL5: view image
Alliance of Genome Resources:
Additional Orthologs for MYL5

Paralogs for MYL5 Gene

Paralogs for MYL5 Gene

(15) SIMAP similar genes for MYL5 Gene using alignment to 4 proteins:

  • MYL5_HUMAN
  • D6RA88_HUMAN
  • D6RB15_HUMAN
  • D6RJ91_HUMAN
genes like me logo Genes that share paralogs with MYL5: view

Variants for MYL5 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYL5 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs2228354 -- p.Phe88Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYL5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MYL5 Gene

Variant ID Type Subtype PubMed ID
esv2759217 CNV loss 17122850
esv995514 CNV insertion 20482838
nsv10413 CNV gain 18304495
nsv1110773 CNV insertion 24896259
nsv1143073 CNV tandem duplication 24896259
nsv508986 CNV insertion 20534489
nsv593206 CNV loss 21841781
nsv593208 CNV loss 21841781
nsv822425 CNV loss 20364138
nsv829834 CNV loss 17160897
nsv950325 CNV deletion 24416366

Variation tolerance for MYL5 Gene

Residual Variation Intolerance Score: 83.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.46; 71.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYL5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYL5
Leiden Open Variation Database (LOVD)
MYL5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYL5 Gene

Disorders for MYL5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MYL5 Gene - From: COP

Disorder Aliases PubMed IDs
primary cutaneous amyloidosis
  • familial primary localized cutaneous amyloidosis
myopathy, centronuclear, 2
  • cnm2
cardiomyopathy, familial hypertrophic, 1
  • cmh1
- elite association - COSMIC cancer census association via MalaCards
Search MYL5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYL5

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MYL5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYL5 Gene

Publications for MYL5 Gene

  1. The genomic organization of a novel regulatory myosin light chain gene (MYL5) that maps to chromosome 4p16.3 and shows different patterns of expression between primates. (PMID: 1284596) Collins C … Hayden MR (Human molecular genetics 1992) 2 3 4
  2. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 40
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  4. Cytoplasmic Metadherin (MTDH) provides survival advantage under conditions of stress by acting as RNA-binding protein. (PMID: 22199357) Meng X … Leslie KK (The Journal of biological chemistry 2012) 3
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3

ExternalLinks

View latest publications for MYL5 gene in Mastermind

Products for MYL5 Gene

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