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Aliases for MYL4 Gene

Aliases for MYL4 Gene

  • Myosin Light Chain 4 2 3 5
  • Myosin, Light Polypeptide 4, Alkali; Atrial, Embryonic 2 3
  • Myosin Light Chain 1, Embryonic Muscle/Atrial Isoform 3 4
  • Myosin, Light Chain 4, Alkali; Atrial, Embryonic 2 3
  • Myosin, Atrial/Fetal Muscle, Light Chain 2 3
  • Myosin Light Chain Alkali GT-1 Isoform 3 4
  • PRO1957 3
  • ALC1 3
  • AMLC 3
  • MLC1 4
  • GT1 3

External Ids for MYL4 Gene

Previous GeneCards Identifiers for MYL4 Gene

  • GC17P044784
  • GC17P047685
  • GC17P045619
  • GC17P045761
  • GC17P042641
  • GC17P045286
  • GC17P040664

Summaries for MYL4 Gene

Entrez Gene Summary for MYL4 Gene

  • Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYL4 Gene

MYL4 (Myosin Light Chain 4) is a Protein Coding gene. Diseases associated with MYL4 include Atrial Fibrillation, Familial, 18 and Familial Atrial Fibrillation. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Actin Nucleation by ARP-WASP Complex. GO annotations related to this gene include calcium ion binding and actin monomer binding. An important paralog of this gene is MYL3.

UniProtKB/Swiss-Prot for MYL4 Gene

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

Tocris Summary for MYL4 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 MYL4 Gene

Additional gene information for MYL4 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYL4 Gene

Genomics for MYL4 Gene

Regulatory Elements for MYL4 Gene

Enhancers for MYL4 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
GH17H047218 1.2 ENCODE dbSUPER 23.5 +19.6 19630 2 PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ATF7 RUNX3 NCOA1 SMARCB1 MYL4 LOC101927060 ITGB3
GH17H047239 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +39.9 39877 2 PKNOX1 ATF1 TCF12 ATF7 RUNX3 REST ZNF518A ZNF592 MEF2D SMARCA4 EFCAB13 MRPL45P2 MYL4 ENSG00000253347 RPS7P11 ITGB3 TBKBP1
GH17H047274 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.7 +77.6 77575 7 HDGF PKNOX1 FEZF1 YBX1 ZNF2 YY1 FOS JUNB REST ZNF592 EFCAB13 GOSR2 LRRC37A2 ARL17B CDC27 ITGB3 ARL17A LRRC46 TBKBP1 SP2
GH17H047222 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.8 +24.5 24469 4 RAD21 ZNF766 ZNF366 ZSCAN5C ZNF362 CEBPB ZEB2 ZNF518A NR2F2 ZFP69B CDC27 MYL4 RNU7-186P EFCAB13 LOC101927060 ITGB3
GH17H047285 1.1 ENCODE dbSUPER 17.1 +86.0 86030 1 PKNOX1 YBX1 BATF RAD21 ATF7 ETV6 RUNX3 CREM IKZF2 SMARCA5 EFCAB13 MYL4 RNU7-186P ITGB3 ENSG00000266601 SCRN2 ENSG00000276790
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYL4 on UCSC Golden Path with GeneCards custom track

Genomic Location for MYL4 Gene

Chromosome:
17
Start:
47,200,446 bp from pter
End:
47,227,697 bp from pter
Size:
27,252 bases
Orientation:
Plus strand

Genomic View for MYL4 Gene

Genes around MYL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYL4 Gene

Proteins for MYL4 Gene

  • Protein details for MYL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12829-MYL4_HUMAN
    Recommended name:
    Myosin light chain 4
    Protein Accession:
    P12829
    Secondary Accessions:
    • D3DXJ7
    • P11783

    Protein attributes for MYL4 Gene

    Size:
    197 amino acids
    Molecular mass:
    21565 Da
    Quaternary structure:
    • Myosin is a hexamer of 2 heavy chains and 4 light chains.

neXtProt entry for MYL4 Gene

Post-translational modifications for MYL4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for MYL4

No data available for DME Specific Peptides for MYL4 Gene

Domains & Families for MYL4 Gene

Gene Families for MYL4 Gene

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

Protein Domains for MYL4 Gene

Suggested Antigen Peptide Sequences for MYL4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MYL4: view

No data available for UniProtKB/Swiss-Prot for MYL4 Gene

Function for MYL4 Gene

Molecular function for MYL4 Gene

GENATLAS Biochemistry:
myosin,light polypeptide 4,alkali,atrial,skeletal,embryonic,same as MLC1-A & MLC1-EMB
UniProtKB/Swiss-Prot Function:
Regulatory light chain of myosin. Does not bind calcium.

Phenotypes From GWAS Catalog for MYL4 Gene

Gene Ontology (GO) - Molecular Function for MYL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003785 actin monomer binding IDA 9180271
GO:0005509 calcium ion binding IEA --
GO:0032038 myosin II heavy chain binding NAS 16675844
GO:0051015 actin filament binding IMP 9738905
genes like me logo Genes that share ontologies with MYL4: view
genes like me logo Genes that share phenotypes with MYL4: view

Animal Models for MYL4 Gene

MGI Knock Outs for MYL4:
  • Myl4 tm1a(EUCOMM)Wtsi

Animal Model Products

CRISPR Products

miRNA for MYL4 Gene

miRTarBase miRNAs that target MYL4

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MYL4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MYL4 Gene

Localization for MYL4 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 MYL4 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016459 myosin complex IEA --
GO:0031672 A band IMP 14985854
genes like me logo Genes that share ontologies with MYL4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYL4 Gene

Pathways & Interactions for MYL4 Gene

genes like me logo Genes that share pathways with MYL4: view

Gene Ontology (GO) - Biological Process for MYL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002026 regulation of the force of heart contraction IMP 16675844
GO:0030049 muscle filament sliding TAS --
GO:0032781 positive regulation of ATPase activity IMP 9738905
GO:0060048 cardiac muscle contraction IMP 14985854
genes like me logo Genes that share ontologies with MYL4: view

No data available for SIGNOR curated interactions for MYL4 Gene

Drugs & Compounds for MYL4 Gene

(4) Drugs for MYL4 Gene - From: HMDB, Tocris, and Novoseek

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

(2) Additional Compounds for MYL4 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 MYL4 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 MYL4: view

Transcripts for MYL4 Gene

Unigene Clusters for MYL4 Gene

Myosin, light chain 4, alkali; atrial, embryonic:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MYL4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MYL4 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9
SP1: - - -
SP2: - -
SP3: -
SP4: - -
SP5:
SP6: - - - -
SP7: -

Relevant External Links for MYL4 Gene

GeneLoc Exon Structure for
MYL4
ECgene alternative splicing isoforms for
MYL4

Expression for MYL4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYL4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYL4 Gene

This gene is overexpressed in Heart - Atrial Appendage (x49.6).

Protein differential expression in normal tissues from HIPED for MYL4 Gene

This gene is overexpressed in Fetal heart (39.6), Prostate (15.3), and Heart (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MYL4 Gene



NURSA nuclear receptor signaling pathways regulating expression of MYL4 Gene:

MYL4

SOURCE GeneReport for Unigene cluster for MYL4 Gene:

Hs.463300

Evidence on tissue expression from TISSUES for MYL4 Gene

  • Muscle(4.7)
  • Blood(4.1)
  • Pancreas(4)
  • Spleen(4)
  • Heart(3.3)
genes like me logo Genes that share expression patterns with MYL4: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYL4 Gene

Orthologs for MYL4 Gene

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

Orthologs for MYL4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYL4 33 34
  • 99.58 (n)
oppossum
(Monodelphis domestica)
Mammalia MYL4 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYL4 34 33
  • 93.05 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MYL4 34 33
  • 92.45 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Myl4 16 34 33
  • 89.94 (n)
rat
(Rattus norvegicus)
Mammalia Myl4 33
  • 89.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYL4 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYL4 34 33
  • 80.92 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYL4 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myl4 33
  • 75.89 (n)
Str.7898 33
zebrafish
(Danio rerio)
Actinopterygii cmlc1 34
  • 77 (a)
OneToMany
myl4 33 34
  • 73.17 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7231 33
fruit fly
(Drosophila melanogaster)
Insecta Mlc-c 35 34
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea mlc-5 34
  • 48 (a)
ManyToMany
mlc-6 34
  • 47 (a)
ManyToMany
T12D8.6 35
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MLC1 34
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.211 34
  • 60 (a)
ManyToMany
CSA.6288 34
  • 47 (a)
ManyToMany
CSA.4806 34
  • 46 (a)
ManyToMany
CSA.6678 34
  • 46 (a)
ManyToMany
Species where no ortholog for MYL4 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)
  • 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 MYL4 Gene

ENSEMBL:
Gene Tree for MYL4 (if available)
TreeFam:
Gene Tree for MYL4 (if available)

Paralogs for MYL4 Gene

Paralogs for MYL4 Gene

(11) SIMAP similar genes for MYL4 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with MYL4: view

Variants for MYL4 Gene

Sequence variations from dbSNP and Humsavar for MYL4 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_077959 Atrial fibrillation, familial, 18 (ATFB18) [MIM:617280]
rs886037778 Pathogenic 47,209,453(+) AGAAG(A/G)AGGCA reference, missense
rs1000151843 -- 47,210,063(+) GCAGG(G/T)GAGGG intron-variant
rs1000171905 -- 47,220,462(+) ATTAC(A/C)AACAA intron-variant
rs1000356004 -- 47,214,730(+) GAAAA(A/C)TATAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MYL4 Gene

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159

Variation tolerance for MYL4 Gene

Residual Variation Intolerance Score: 66.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.63; 31.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYL4 Gene

Human Gene Mutation Database (HGMD)
MYL4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYL4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYL4 Gene

Disorders for MYL4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MYL4 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
atrial fibrillation, familial, 18
  • atfb18
familial atrial fibrillation
  • atfb
myl4-related familial atrial fibrillation
  • atrial fibrillation, familial, 18
atrial fibrillation
  • a-fib
herpes gestationis
  • gestational herpes
- elite association - COSMIC cancer census association via MalaCards
Search MYL4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYL4_HUMAN
  • Atrial fibrillation, familial, 18 (ATFB18) [MIM:617280]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269 PubMed:27066836}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MYL4

Genetic Association Database (GAD)
MYL4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYL4
genes like me logo Genes that share disorders with MYL4: view

No data available for Genatlas for MYL4 Gene

Publications for MYL4 Gene

  1. Molecular cloning and characterization of human atrial and ventricular myosin alkali light chain cDNA clones. (PMID: 3417683) Kurabayashi M … Yazaki Y (The Journal of biological chemistry 1988) 2 3 4 60
  2. A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. (PMID: 27066836) Orr N … Gollob MH (Nature communications 2016) 3 4 60
  3. Human atrial myosin light chain 1 expression attenuates heart failure. (PMID: 16106982) Abdelaziz AI … Morano I (Advances in experimental medicine and biology 2005) 3 22 60
  4. Functional characterization of the human atrial essential myosin light chain (hALC-1) in a transgenic rat model. (PMID: 14985854) Abdelaziz AI … Morano I (Journal of molecular medicine (Berlin, Germany) 2004) 3 22 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for MYL4 Gene

Sources for MYL4 Gene

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