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Aliases for MYH1 Gene

Aliases for MYH1 Gene

  • Myosin Heavy Chain 1 2 3 4 5
  • Myosin Heavy Chain IIx/D 2 3 4
  • Myosin, Heavy Polypeptide 1, Skeletal Muscle, Adult 2 3
  • Myosin Heavy Chain, Skeletal Muscle, Adult 1 3 4
  • Myosin Heavy Chain 2x 3 4
  • MyHC-IIx/D 3 4
  • MyHC-2x 3 4
  • Myosin, Heavy Chain 1, Skeletal Muscle, Adult 3
  • Epididymis Luminal Protein 71 3
  • MyHC-2X/D 3
  • Myosin-1 3
  • MYHSA1 3
  • HEL71 3
  • MYHa 3

External Ids for MYH1 Gene

Previous GeneCards Identifiers for MYH1 Gene

  • GC17U990062
  • GC17M011510
  • GC17M010338
  • GC17M010596
  • GC17M010336

Summaries for MYH1 Gene

Entrez Gene Summary for MYH1 Gene

  • Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYH1 Gene

MYH1 (Myosin Heavy Chain 1) is a Protein Coding gene. Diseases associated with MYH1 include Retinitis Pigmentosa 67. Among its related pathways are PAK Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include nucleotide binding and calmodulin binding. An important paralog of this gene is MYO18A.

UniProtKB/Swiss-Prot for MYH1 Gene

  • Muscle contraction.

Tocris Summary for MYH1 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 MYH1 Gene

Additional gene information for MYH1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYH1 Gene

Genomics for MYH1 Gene

GeneHancer (GH) Regulatory Elements for MYH1 Gene

Promoters and enhancers for MYH1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I010518 Promoter 0.5 EPDnew 550.8 +0.2 238 0.1 MYH1 MYH4 GC17P010483 MYHAS ENSG00000272736
GH17I010519 Promoter 0.5 EPDnew 550.8 0.0 -19 0.1 MYH1 MYH2 ENSG00000272736 MYHAS
GH17I010548 Promoter/Enhancer 0.8 EPDnew ENCODE 0.3 -31.0 -30963 1.7 ETS1 MYH2 MYH1 MYHAS
GH17I010512 Enhancer 0.2 ENCODE 0.8 +5.0 4960 1.2 MYH4 MYH1 GC17P010483 ENSG00000272736 MYHAS
GH17I010543 Enhancer 0.3 ENCODE 0.3 -25.1 -25076 0.2 ATF2 MYH2 MYH1 MYHAS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MYH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYH1 gene promoter:

Genomic Locations for MYH1 Gene

Genomic Locations for MYH1 Gene
26,237 bases
Minus strand

Genomic View for MYH1 Gene

Genes around MYH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYH1 Gene

Proteins for MYH1 Gene

  • Protein details for MYH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q14CA4
    • Q9Y622

    Protein attributes for MYH1 Gene

    1939 amino acids
    Molecular mass:
    223145 Da
    Quaternary structure:
    • Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).

neXtProt entry for MYH1 Gene

Post-translational modifications for MYH1 Gene

No Post-translational modifications

Other Protein References for MYH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYH1 Gene

Domains & Families for MYH1 Gene

Gene Families for MYH1 Gene

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

Suggested Antigen Peptide Sequences for MYH1 Gene

Graphical View of Domain Structure for InterPro Entry



  • The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
  • The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
  • Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYH1: view

Function for MYH1 Gene

Molecular function for MYH1 Gene

GENATLAS Biochemistry:
myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 1,skeletal muscle,adult
UniProtKB/Swiss-Prot Function:
Muscle contraction.

Gene Ontology (GO) - Molecular Function for MYH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MYH1: view
genes like me logo Genes that share phenotypes with MYH1: view

Animal Models for MYH1 Gene

MGI Knock Outs for MYH1:

miRNA for MYH1 Gene

miRTarBase miRNAs that target MYH1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MYH1 Gene

Localization for MYH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYH1 Gene

Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.

Subcellular locations from

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 MYH1 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MYH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005859 muscle myosin complex IDA 18310078
GO:0016459 myosin complex IEA --
GO:0030016 myofibril IEA --
GO:0032982 myosin filament IEA --
genes like me logo Genes that share ontologies with MYH1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYH1 Gene

Pathways & Interactions for MYH1 Gene

genes like me logo Genes that share pathways with MYH1: view

Gene Ontology (GO) - Biological Process for MYH1 Gene


No data available for SIGNOR curated interactions for MYH1 Gene

Drugs & Compounds for MYH1 Gene

(3) Drugs for MYH1 Gene - From: Tocris and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(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 MYH1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for MYH1 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 MYH1: view

Transcripts for MYH1 Gene

mRNA/cDNA for MYH1 Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(360) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYH1 Gene

Myosin, heavy chain 1, skeletal muscle, adult:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYH1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b
SP7: -

Relevant External Links for MYH1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MYH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYH1 Gene

This gene is overexpressed in Muscle - Skeletal (x52.5).

Protein differential expression in normal tissues from HIPED for MYH1 Gene

This gene is overexpressed in Heart (33.0), Esophagus (13.6), and Liver (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MYH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MYH1 Gene:


SOURCE GeneReport for Unigene cluster for MYH1 Gene:


Evidence on tissue expression from TISSUES for MYH1 Gene

  • Muscle(4.9)
  • Liver(4.4)
  • Pancreas(4.1)
  • Lung(4)
  • Heart(2.3)
genes like me logo Genes that share expression patterns with MYH1: 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 MYH1 Gene

Orthologs for MYH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYH1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MYH1 33 34
  • 99.43 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 95 (a)
-- 34
  • 92 (a)
-- 34
  • 87 (a)
(Canis familiaris)
Mammalia MYH1 33 34
  • 91.61 (n)
(Bos Taurus)
Mammalia MYH1 33 34
  • 91.33 (n)
(Rattus norvegicus)
Mammalia Myh1 33
  • 91.27 (n)
(Mus musculus)
Mammalia Myh1 33 16 34
  • 90.82 (n)
(Gallus gallus)
Aves -- 34
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495638 33
  • 77.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mhc 35
  • 50 (a)
Prm 35
  • 36 (a)
(Caenorhabditis elegans)
Secernentea F58G4.1 35
  • 48 (a)
myo-3 35
  • 47 (a)
F45G2.2 35
  • 44 (a)
Y11D7A.14 35
  • 29 (a)
hcp-1 35
  • 20 (a)
hcp-2 35
  • 20 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2731 33
Species where no ortholog for MYH1 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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)
  • zebrafish (Danio rerio)

Evolution for MYH1 Gene

Gene Tree for MYH1 (if available)
Gene Tree for MYH1 (if available)

Paralogs for MYH1 Gene

Paralogs for MYH1 Gene

(24) SIMAP similar genes for MYH1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MYH1: view

Variants for MYH1 Gene

Sequence variations from dbSNP and Humsavar for MYH1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs139860229 A breast cancer sample 10,497,766(-) C/T coding_sequence_variant, missense_variant
rs150456818 A breast cancer sample 10,496,414(-) C/T coding_sequence_variant, missense_variant
rs752643679 A breast cancer sample 10,499,041(-) G/A coding_sequence_variant, missense_variant
rs1000027906 -- 10,517,012(-) G/A intron_variant
rs1000081691 -- 10,500,556(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MYH1 Gene

Variant ID Type Subtype PubMed ID
dgv5443n54 CNV gain 21841781
nsv1058835 CNV loss 25217958
nsv1060957 CNV gain 25217958
nsv520771 CNV gain+loss 19592680
nsv833366 CNV gain 17160897
nsv960053 CNV duplication 23825009
nsv960408 CNV duplication 23825009
nsv978361 CNV duplication 23825009

Variation tolerance for MYH1 Gene

Residual Variation Intolerance Score: 94.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.54; 72.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYH1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH1 Gene

Disorders for MYH1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MYH1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 67
  • rp67
- elite association - COSMIC cancer census association via MalaCards
Search MYH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYH1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MYH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYH1 Gene

Publications for MYH1 Gene

  1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  2. A common mutation of the MYH gene is associated with increased DNA oxidation and age-related diseases. (PMID: 19932167) Sun C … Wang Y (Free radical biology & medicine 2010) 3 44 58
  3. Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot. (PMID: 20357587) Shyy W … Morcuende JA (Journal of pediatric orthopedics 2010) 3 44 58
  4. APC, MYH, and the correlation genotype-phenotype in colorectal polyposis. (PMID: 19169759) Lefevre JH … Tiret E (Annals of surgical oncology 2009) 3 44 58
  5. Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array. (PMID: 19536092) Kweekel DM … Guchelaar HJ (British journal of cancer 2009) 3 44 58

Products for MYH1 Gene

Sources for MYH1 Gene

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