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] See more...

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 1/3, Skeletal Muscle Isoform 3 4
  • 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
  • A1 Catalytic 3
  • A2 Catalytic 3
  • MYOFTA 3
  • MLC1F 3
  • MLC3F 3
  • MYL1 5

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. Diseases associated with MYL1 include Myopathy, Congenital, With Fast-Twitch Fiber Atrophy and Crab Allergy. Among its related pathways are Association Between Physico-Chemical Features and Toxicity Associated Pathways and Guidance Cues and Growth Cone Motility. Gene Ontology (GO) annotations related to this gene include calcium ion binding and structural constituent of muscle. An important paralog of this gene is MYL3.

UniProtKB/Swiss-Prot Summary for MYL1 Gene

  • Non-regulatory myosin light chain required for proper formation and/or maintenance of myofibers, and thus appropriate muscle function.

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

Additional gene information for MYL1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYL1 Gene

Genomics for MYL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYL1 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
GH02J210301 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE dbSUPER 607.4 +12.5 12473 2.2 SMARCA4 MYL1 KANSL1L RPE ENSG00000199203 ACADL
GH02J210315 Promoter/Enhancer 0.8 EPDnew Ensembl dbSUPER 600.7 +0.4 373 1.6 MYL1 ENSG00000199203 ACADL
GH02J210322 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE dbSUPER 4.6 -9.3 -9293 3.3 SMARCA4 EZH2 LANCL1-AS1 lnc-CPS1-2 MYL1 LANCL1
GH02J210177 Enhancer 0.7 Ensembl ENCODE 4.9 +136.8 136778 1.6 USF1 YY1 POLR2A TAF1 NANOG SP1 USF2 POU5F1 lnc-RPE-8 MYL1 KANSL1L ENSG00000279317 ACADL
GH02J210299 Enhancer 0.2 dbSUPER 9.5 +14.8 14842 1.4 MYL1 ENSG00000199203 ACADL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYL1

Top Transcription factor binding sites by QIAGEN in the MYL1 gene promoter:
  • c-Myb
  • E47
  • ER-alpha
  • STAT1alpha
  • STAT1beta
  • STAT2
  • Tal-1beta

Genomic Locations for MYL1 Gene

Genomic Locations for MYL1 Gene
chr2:210,290,150-210,315,174
(GRCh38/hg38)
Size:
25,025 bases
Orientation:
Minus strand
chr2:211,154,868-211,179,914
(GRCh37/hg19)
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. Does not bind calcium.

    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

Gene Families for MYL1 Gene

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

Protein Domains for MYL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYL1 Gene

GenScript: Design optimal peptide antigens:
  • Myosin light chain alkali 1/2 (MYL1_HUMAN)
genes like me logo Genes that share domains with MYL1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MYL1 Gene

Function for MYL1 Gene

Molecular function for MYL1 Gene

UniProtKB/Swiss-Prot Function:
Non-regulatory myosin light chain required for proper formation and/or maintenance of myofibers, and thus appropriate muscle function.
GENATLAS Biochemistry:
myosin,light polypeptide 1,alkali;skeletal,fast,same as MLC1-F & MLC3-F

Phenotypes From GWAS Catalog for MYL1 Gene

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

Human Phenotype Ontology for MYL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYL1 Gene

MGI Knock Outs for MYL1:
  • Myl1 Myl1<tm1Nros>
  • Myl1 Myl1<tm1.1(cre/ERT2)Lepr>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYL1

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 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 and Subcellular locations from the Human Protein Atlas (HPA) for MYL1 Gene

Pathways & Interactions for MYL1 Gene

PathCards logo

SuperPathways for MYL1 Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
2 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
.49
.42
.32
3 PAK Pathway
.56
.56
.36
4 Actin Nucleation by ARP-WASP Complex
.66
.35
5 RhoGDI Pathway
.33
.33
genes like me logo Genes that share pathways with MYL1: view

Pathways by source for MYL1 Gene

8 GeneGo (Thomson Reuters) pathways for MYL1 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cell adhesion Tight junctions
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
  • Development MAG-dependent inhibition of neurite outgrowth
16 Qiagen pathways for MYL1 Gene
  • Actin Nucleation by ARP-WASP Complex
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Antioxidant Action of Vitamin-C
  • cAMP Pathway

SIGNOR curated interactions for MYL1 Gene

Is activated by:

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

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 6556
(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

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYL1

Clone 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

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, MaxQB, and MOPED for MYL1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYL1

SOURCE GeneReport for Unigene cluster for MYL1 Gene:

Hs.187338

Evidence on tissue expression from TISSUES for MYL1 Gene

  • Muscle(5)
  • Liver(4.4)
  • Heart(3.8)
  • Nervous system(3.1)
  • Thyroid gland(2.4)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with MYL1: 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 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 30 31
  • 97.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MYL1 30 31
  • 93.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYL1 30 31
  • 92.5 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MYL1 31
  • 92 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MYL1 31
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Myl1 30 17 31
  • 88.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Myl1 30
  • 87.29 (n)
Chicken
(Gallus gallus)
Aves MYL1 30 31
  • 78.89 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYL1 31
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia myl1 30
  • 80.25 (n)
MGC75774 30
African clawed frog
(Xenopus laevis)
Amphibia myl1-prov 30
Zebrafish
(Danio rerio)
Actinopterygii myl1 30 31
  • 67.3 (n)
OneToMany
mylz3 31
  • 62 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Mlc-c 31 32
  • 51 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mlc-6 31
  • 48 (a)
ManyToMany
T12D8.6 32
  • 48 (a)
mlc-5 31
  • 47 (a)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFL030C 30
  • 50.51 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F10439g 30
  • 50.5 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MLC1 30 31
  • 50.25 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.211 31
  • 60 (a)
ManyToMany
CSA.4806 31
  • 46 (a)
ManyToMany
CSA.6288 31
  • 46 (a)
ManyToMany
CSA.6678 31
  • 46 (a)
ManyToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cdc4 30
  • 49.12 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU06617 30
  • 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 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)
  • Wheat (Triticum aestivum)

Evolution for MYL1 Gene

ENSEMBL:
Gene Tree for MYL1 (if available)
TreeFam:
Gene Tree for MYL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYL1: view image

Paralogs for MYL1 Gene

Paralogs for MYL1 Gene

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

  • MYL1_HUMAN
  • Q53R15_HUMAN
  • Q53SD2_HUMAN
genes like me logo Genes that share paralogs with MYL1: view

Variants for MYL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYL1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs1259220084 Likely Pathogenic: Congenital myopathy with reduced type 2 muscle fibers 210,293,791(-) A/C MISSENSE_VARIANT
rs1559659233 Pathogenic: Congenital myopathy with reduced type 2 muscle fibers 210,293,802(-) T/C SPLICE_ACCEPTOR_VARIANT
VAR_082312 Myopathy, congenital, with fast-twitch type II fiber atrophy (MYOFTA) [MIM:618414] p.Met163Arg

Additional dbSNP identifiers (rs#s) for MYL1 Gene

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

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

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)

Additional Variant Information for MYL1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MYL1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for MYL1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopathy, congenital, with fast-twitch fiber atrophy
  • myofta
crab allergy
  • green mud crab allergy
myopathy, congenital
  • batten-turner congenital myopathy
myopathy
  • muscular diseases
myopathy, distal, 3
  • mpd3
- elite association - COSMIC cancer census association via MalaCards
Search MYL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYL1_HUMAN
  • Myopathy, congenital, with fast-twitch type II fiber atrophy (MYOFTA) [MIM:618414]: An autosomal recessive congenital myopathy characterized by decreased fetal movements, severe muscle weakness and respiratory failure. Additional features include delayed motor development, areflexia, facial weakness, normal eye movements, head lag, and mild contractures. Skeletal muscle biopsy shows variation in fiber size with atrophy of the fast-twitch type II fibers. {ECO:0000269 PubMed:30215711}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MYL1

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

No data available for Genatlas for MYL1 Gene

Publications for MYL1 Gene

  1. Bi-allelic mutations in MYL1 cause a severe congenital myopathy. (PMID: 30215711) Ravenscroft G … Muntoni F (Human molecular genetics 2018) 3 4
  2. 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
  3. Characterization of human myosin light chains 1sa and 3nm: implications for isoform evolution and function. (PMID: 2304459) Hailstones DL … Gunning PW (Molecular and cellular biology 1990) 2 3
  4. 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 HH (The Journal of biological chemistry 1989) 3 4
  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 HH (Gene 1988) 3 4

Products for MYL1 Gene

Sources for MYL1 Gene