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MYL1 Gene(Protein Coding)

Myosin Light Chain 1

GCID:
GC02M210290
GIFtS:
48
Genes Participants
UDN Logo

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 Cardiac conduction and PAK Pathway. 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 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

Additional gene information for MYL1 Gene

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

Genomics for MYL1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for MYL1 Gene

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
GH02I210315 Promoter/Enhancer 0.7 EPDnew dbSUPER 550.8 0.0 -1 0.1 MYL1 LANCL1-AS1 GC02M210241
GH02I210303 Promoter/Enhancer 0.7 EPDnew dbSUPER 550.4 +11.6 11555 0.1 MYL1 ENSG00000199203 GC02M210241
GH02I210301 Enhancer 0.4 ENCODE dbSUPER 7.4 +12.8 12764 1 MYL1 ENSG00000199203 GC02M210241
GH02I210177 Enhancer 0.5 ENCODE 4.9 +137.2 137160 0.9 SP1 USF1 MAX POU5F1 USF2 MYL1 ENSG00000279317 ACADL
GH02I210322 Enhancer 0.5 ENCODE dbSUPER 4.6 -9.3 -9277 3.3 EZH2 LANCL1-AS1 MYL1 GC02M210241
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MYL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYL1 gene promoter:

Genomic Locations for MYL1 Gene

Genomic Locations for MYL1 Gene
chr2:210,290,144-210,315,190
(GRCh38/hg38)
Size:
25,047 bases
Orientation:
Minus strand
chr2:211,154,868-211,179,914
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for MYL1 Gene

Proteins for MYL1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for MYL1 Gene

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

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
  • Predicted secreted proteins

Protein Domains for MYL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for MYL1 Gene

Function for MYL1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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.

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

Animal Models for MYL1 Gene

MGI Knock Outs for MYL1:

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 and Subcellular locations from the Human Protein Atlas (HPA) 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

Products:

  1. Drug

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

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 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MYL1 Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(414) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYL1 Gene

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

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

Products:

  1. Primer

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

mRNA expression in normal human tissues for MYL1 Gene
mRNA expression by GTEx for MYL1 GenemRNA expression by BioGPS 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

Evidence on tissue expression from TISSUES for MYL1 Gene

  • Muscle(5)
  • Liver(4.2)
  • Heart(3.2)
  • Nervous system(2)
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 33 34
  • 97.74 (n)
dog
(Canis familiaris)
 Mammalia MYL1 33 34
  • 93.78 (n)
cow
(Bos Taurus)
 Mammalia MYL1 33 34
  • 92.5 (n)
oppossum
(Monodelphis domestica)
 Mammalia MYL1 34
  • 92 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MYL1 34
  • 89 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Myl1 33 16 34
  • 88.54 (n)
rat
(Rattus norvegicus)
 Mammalia Myl1 33
  • 87.29 (n)
chicken
(Gallus gallus)
 Aves MYL1 33 34
  • 78.89 (n)
lizard
(Anolis carolinensis)
 Reptilia MYL1 34
  • 86 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia myl1 33
  • 80.25 (n)
MGC75774 33
African clawed frog
(Xenopus laevis)
 Amphibia myl1-prov 33
zebrafish
(Danio rerio)
 Actinopterygii myl1 33 34
  • 67.3 (n)
mylz3 34
  • 62 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta Mlc-c 35 34
  • 53 (a)
worm
(Caenorhabditis elegans)
 Secernentea T12D8.6 35
  • 48 (a)
mlc-6 34
  • 48 (a)
 ManyToMany
mlc-5 34
  • 47 (a)
 ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AFL030C 33
  • 50.51 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F10439g 33
  • 50.5 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MLC1 33 34
  • 50.25 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.211 34
  • 60 (a)
 ManyToMany
CSA.4806 34
  • 46 (a)
 ManyToMany
CSA.6288 34
  • 46 (a)
 ManyToMany
CSA.6678 34
  • 46 (a)
 ManyToMany
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes cdc4 33
  • 49.12 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU06617 33
  • 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 Variation AA Info Type
rs1000115659 -- 210,303,712(-) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000128713 -- 210,309,764(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000178468 -- 210,291,383(-) C/G intron_variant
rs1000261985 -- 210,310,056(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000314675 -- 210,309,727(-) T/A genic_upstream_transcript_variant, intron_variant

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

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

Disorders for MYL1 Gene

Additional Disease Information for MYL1

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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 DS … MGC Project Team (Genome research 2004) 3 4 58
  2. 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 58
  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 HH (The Journal of biological chemistry 1989) 3 4 58
  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 … Frézal J (Human genetics 1988) 2 3 58
  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 58

Products for MYL1 Gene

Sources for MYL1 Gene

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