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Aliases for MYL1 Gene

Aliases for MYL1 Gene

  • Myosin Light Chain 1 2 3 5
  • Myosin, Light Polypeptide 1, Alkali; Skeletal, Fast 2 3
  • Myosin, Light Chain 1, Alkali; Skeletal, Fast 2 3
  • Myosin Light Chain Alkali 1/2 3 4
  • Myosin Light Chain A1/A2 3 4
  • MLC1F/MLC3F 3 4
  • MLC1/MLC3 3 4
  • Myosin Light Chain 1/3, Skeletal Muscle Isoform 3
  • A1 Catalytic 3
  • A2 Catalytic 3
  • MLC1F 3
  • MLC3F 3

External Ids for MYL1 Gene

Previous GeneCards Identifiers for MYL1 Gene

  • GC02M209430
  • GC02M209879
  • GC02M211118
  • GC02M211357
  • GC02M210980
  • GC02M210863
  • GC02M203000

Summaries for MYL1 Gene

Entrez Gene Summary for MYL1 Gene

  • Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYL1 Gene

MYL1 (Myosin Light Chain 1) is a Protein Coding gene. Among its related pathways are Activation of cAMP-Dependent PKA and Striated Muscle Contraction. 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 MYL1 Gene

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

Tocris Summary for MYL1 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 MYL1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYL1 Gene

Genomics for MYL1 Gene

Regulatory Elements for MYL1 Gene

Enhancers for MYL1 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
GH02F210301 0.4 ENCODE 7.3 +12.8 12764 1.0 SMARCA4 MYL1 ENSG00000199203
GH02F210177 0.4 ENCODE 4.9 +137.2 137161 0.9 MAX POU5F1 MYL1 ENSG00000231294 ACADL
GH02F210322 0.4 ENCODE 4.6 -9.3 -9277 3.3 SMARCA4 MYL1 LANCL1-AS1
GH02F210318 0.4 ENCODE 0.8 -3.8 -3785 1.6 SCRT2 MYL1 LANCL1-AS1
GH02F210286 0.4 ENCODE 0.3 +26.9 26857 2.8 SMARCA4 ENSG00000199203 MYL1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MYL1 Gene

Chromosome:
2
Start:
210,290,144 bp from pter
End:
210,315,190 bp from pter
Size:
25,047 bases
Orientation:
Minus strand

Genomic View for MYL1 Gene

Genes around MYL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYL1 Gene

Proteins for MYL1 Gene

  • Protein details for MYL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05976-MYL1_HUMAN
    Recommended name:
    Myosin light chain 1/3, skeletal muscle isoform
    Protein Accession:
    P05976
    Secondary Accessions:
    • B2R4N6
    • B2R4T6
    • P06741
    • Q6IBD5

    Protein attributes for MYL1 Gene

    Size:
    194 amino acids
    Molecular mass:
    21145 Da
    Quaternary structure:
    • Myosin is a hexamer of 2 heavy chains and 4 light chains.

    Alternative splice isoforms for MYL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYL1 Gene

Post-translational modifications for MYL1 Gene

Other Protein References for MYL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYL1 Gene

Domains & Families for MYL1 Gene

Protein Domains for MYL1 Gene

Suggested Antigen Peptide Sequences for MYL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P05976

UniProtKB/Swiss-Prot:

MYL1_HUMAN :
  • Contains 3 EF-hand domains.
Domain:
  • Contains 3 EF-hand domains.
genes like me logo Genes that share domains with MYL1: view

Function for MYL1 Gene

Molecular function for MYL1 Gene

GENATLAS Biochemistry:
myosin,light polypeptide 1,alkali;skeletal,fast,same as MLC1-F & MLC3-F
UniProtKB/Swiss-Prot Function:
Regulatory light chain of myosin. Does not bind calcium.

Gene Ontology (GO) - Molecular Function for MYL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0008307 structural constituent of muscle NAS 3904738
genes like me logo Genes that share ontologies with MYL1: view
genes like me logo Genes that share phenotypes with MYL1: view

Animal Models for MYL1 Gene

MGI Knock Outs for MYL1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for MYL1 Gene

Localization for MYL1 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 MYL1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MYL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005859 muscle myosin complex NAS 3904738
GO:0016459 myosin complex IEA --
GO:0030016 myofibril IDA 8145163
GO:0030017 sarcomere NAS 3904738
genes like me logo Genes that share ontologies with MYL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYL1 Gene

Pathways & Interactions for MYL1 Gene

genes like me logo Genes that share pathways with MYL1: view

Gene Ontology (GO) - Biological Process for MYL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction IDA 8145163
GO:0030049 muscle filament sliding NAS,TAS --
GO:0060048 cardiac muscle contraction IEA --
genes like me logo Genes that share ontologies with MYL1: view

No data available for SIGNOR curated interactions for MYL1 Gene

Drugs & Compounds for MYL1 Gene

(3) Drugs for MYL1 Gene - From: HMDB and Tocris

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 MYL1 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 MYL1 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 MYL1: view

Transcripts for MYL1 Gene

mRNA/cDNA for MYL1 Gene

Unigene Clusters for MYL1 Gene

Myosin, light chain 1, alkali; skeletal, fast:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYL1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
SP1:
SP2: - - -
SP3: - - - - - - -
SP4: -

Relevant External Links for MYL1 Gene

GeneLoc Exon Structure for
MYL1
ECgene alternative splicing isoforms for
MYL1

Expression for MYL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYL1 Gene

This gene is overexpressed in Muscle - Skeletal (x51.9).

Protein differential expression in normal tissues from HIPED for MYL1 Gene

This gene is overexpressed in Esophagus (24.2), Tonsil (16.8), and Oral epithelium (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MYL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of MYL1 Gene:

MYL1

SOURCE GeneReport for Unigene cluster for MYL1 Gene:

Hs.187338
genes like me logo Genes that share expression patterns with MYL1: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MYL1 Gene

Orthologs for MYL1 Gene

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

Orthologs for MYL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYL1 34 35
  • 97.74 (n)
dog
(Canis familiaris)
Mammalia MYL1 34 35
  • 93.78 (n)
cow
(Bos Taurus)
Mammalia MYL1 34 35
  • 92.5 (n)
oppossum
(Monodelphis domestica)
Mammalia MYL1 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYL1 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myl1 34 16 35
  • 88.54 (n)
rat
(Rattus norvegicus)
Mammalia Myl1 34
  • 87.29 (n)
chicken
(Gallus gallus)
Aves MYL1 34 35
  • 78.89 (n)
lizard
(Anolis carolinensis)
Reptilia MYL1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myl1 34
  • 80.25 (n)
MGC75774 34
African clawed frog
(Xenopus laevis)
Amphibia myl1-prov 34
zebrafish
(Danio rerio)
Actinopterygii myl1 34 35
  • 67.3 (n)
mylz3 35
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Mlc-c 36 35
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea T12D8.6 36
  • 48 (a)
mlc-6 35
  • 48 (a)
ManyToMany
mlc-5 35
  • 47 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL030C 34
  • 50.51 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F10439g 34
  • 50.5 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MLC1 34 35
  • 50.25 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.211 35
  • 60 (a)
ManyToMany
CSA.4806 35
  • 46 (a)
ManyToMany
CSA.6288 35
  • 46 (a)
ManyToMany
CSA.6678 35
  • 46 (a)
ManyToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cdc4 34
  • 49.12 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06617 34
  • 44.29 (n)
Species where no ortholog for MYL1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 MYL1 Gene

ENSEMBL:
Gene Tree for MYL1 (if available)
TreeFam:
Gene Tree for MYL1 (if available)

Paralogs for MYL1 Gene

Paralogs for MYL1 Gene

(18) SIMAP similar genes for MYL1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MYL1: view

Variants for MYL1 Gene

Sequence variations from dbSNP and Humsavar for MYL1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1057219 -- 210,298,481(-) CGAGC(C/T)CTGGG reference, synonymous-codon
rs10626228 -- 210,308,870(+) GTTCA(-/TTCTT)ATTAT intron-variant
rs10626324 -- 210,308,872(+) TCATT(-/CTTTT)ATTTT intron-variant
rs1074158 -- 210,310,319(+) GTTTT(A/G)TCATA intron-variant
rs111298494 -- 210,298,835(+) ATTCA(C/T)ATTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MYL1 Gene

Variant ID Type Subtype PubMed ID
nsv834520 CNV loss 17160897
nsv1012567 CNV gain 25217958
dgv4163n100 CNV gain 25217958

Variation tolerance for MYL1 Gene

Residual Variation Intolerance Score: 55.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYL1 Gene

Disorders for MYL1 Gene

Relevant External Links for MYL1

Genetic Association Database (GAD)
MYL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYL1

No disorders were found for MYL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MYL1 Gene

Publications for MYL1 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  2. Characterization of human myosin light chains 1sa and 3nm: implications for isoform evolution and function. (PMID: 2304459) Hailstones D.L. … Gunning P.W. (Mol. Cell. Biol. 1990) 2 3 64
  3. Identification of the functional promoter regions in the human gene encoding the myosin alkali light chains MLC1 and MLC3 of fast skeletal muscle. (PMID: 2777779) Seidel U. … Arnold H.H. (J. Biol. Chem. 1989) 3 4 64
  4. Assignment of the human fast skeletal muscle myosin alkali light chains gene (MLC1F/MLC3F) to 2q 32.1-2qter. (PMID: 3422212) Cohen-Haguenauer O. … FrAczal J. (Hum. Genet. 1988) 2 3 64
  5. Alkali myosin light chains in man are encoded by a multigene family that includes the adult skeletal muscle, the embryonic or atrial, and nonsarcomeric isoforms. (PMID: 2458299) Seidel U. … Arnold H.H. (Gene 1988) 3 4 64

Products for MYL1 Gene

Sources for MYL1 Gene

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