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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 Cardiac conduction and PAK Pathway. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for MYL4 Gene

Promoters and enhancers for MYL4 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
GH17I047208 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 561 +9.3 9271 3 HDAC1 HDGF TAF9B ARNT NFRKB ZSCAN4 TCF12 POLR2B ZNF766 EGR1 MYL4 CDC27 KANSL1 SP2 MRPL45P2 ITGB3
GH17I047199 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 550.8 +0.3 258 2.1 POLR2A NBN ETV6 ZNF24 ZBTB33 ELF1 MLLT1 IKZF2 SPI1 MYL4 LOC101927060 RNU7-186P EFCAB13 ITGB3
GH17I046922 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.5 -273.5 -273454 9.6 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 GOSR2 MRPL45P2 LOC101927060 ARL17B ARL17A EFCAB13 ENSG00000262372 CDC27 RPS7P11 MYL4
GH17I047218 Enhancer 1.1 ENCODE dbSUPER 23.5 +19.6 19630 2.6 PKNOX1 SMAD1 ATF1 ARNT TCF12 ZNF766 GATA2 ATF7 RUNX3 NCOA1 MYL4 LOC101927060 ITGB3
GH17I047239 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +39.9 39876 2.4 ATF1 PKNOX1 TCF12 ATF7 RUNX3 REST ZNF518A ZNF592 MEF2D ATF4 EFCAB13 MRPL45P2 MYL4 ENSG00000253347 RPS7P11 ITGB3 TBKBP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MYL4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYL4 gene promoter:

Genomic Locations for MYL4 Gene

Genomic Locations for MYL4 Gene
chr17:47,200,446-47,227,697
(GRCh38/hg38)
Size:
27,252 bases
Orientation:
Plus strand
chr17:45,277,812-45,301,045
(GRCh37/hg19)

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

No Post-translational modifications

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):
  • Disease related genes
  • 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

Human Phenotype Ontology for MYL4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYL4 Gene

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

miRNA for MYL4 Gene

miRTarBase miRNAs that target MYL4

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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 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 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:

Clone Products

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(3.4)
genes like me logo Genes that share expression patterns with MYL4: view

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 33 34
  • 93.05 (n)
dog
(Canis familiaris)
Mammalia MYL4 33 34
  • 92.45 (n)
mouse
(Mus musculus)
Mammalia Myl4 33 16 34
  • 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 33 34
  • 80.92 (n)
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 Variation AA Info Type
rs114024716 benign, Atrial fibrillation, familial, 18 47,221,678(+) G/A intron_variant
rs143234546 benign, Atrial fibrillation, familial, 18 47,213,813(+) C/T coding_sequence_variant, synonymous_variant
rs144870368 likely-benign, Atrial fibrillation, familial, 18 47,219,907(+) T/C coding_sequence_variant, missense_variant
rs146859926 benign, Atrial fibrillation, familial, 18 47,222,376(+) G/A intron_variant
rs150593274 likely-benign, Atrial fibrillation, familial, 18 47,221,773(+) C/A/T coding_sequence_variant, missense_variant, synonymous_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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
atrial fibrillation, familial, 18
  • atfb18
familial atrial fibrillation
  • atrial fibrillation, familial, 1
atrial fibrillation
  • a-fib
herpes gestationis
  • gestational herpes
aortic valve disease 2
  • aovd2
- 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.

Additional Disease Information for 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 58
  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 58
  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 58
  4. 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 58
  5. 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 58

Products for MYL4 Gene

Sources for MYL4 Gene

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