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 des... See more...

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/D 2 3
  • Myosin-1 3 4
  • MyHC-2x 3 4
  • MYHSA1 2 3
  • MYHa 2 3
  • Myosin, Heavy Chain 1, Skeletal Muscle, Adult 3
  • Epididymis Luminal Protein 71 3
  • MGC133384 2
  • HEL71 3
  • MYH1 5

External Ids for MYH1 Gene

Previous GeneCards Identifiers for MYH1 Gene

  • GC17U990062
  • GC17M011510
  • GC17M010338
  • GC17M010596
  • GC17M010336
  • GC17M010395

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 Epilepsy, Idiopathic Generalized 12 and Myh-Associated Polyposis. Among its related pathways are Actin Nucleation by ARP-WASP Complex and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Gene Ontology (GO) annotations related to this gene include nucleotide binding and calmodulin binding. An important paralog of this gene is MYH2.

UniProtKB/Swiss-Prot Summary for MYH1 Gene

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 , Rfam classification and piRNA Summary for MYH1 Gene

Genomics for MYH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYH1 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
GH17J010548 Promoter/Enhancer 0.8 EPDnew Ensembl ENCODE 0.3 -30.8 -30755 1.7 ETS1 MYH2 RF00017-2284 MYH1 RF00017-2283 L13304-016 MYHAS
GH17J010547 Enhancer 0.5 Ensembl 0.3 -28.8 -28782 0.2 CREB1 PKNOX1 FOSL1 FOXP1 FOSL2 ATF3 FOS MEIS2 JUND RF00017-2284 MYH2 MYH1 RF00017-2283 L13304-016 MYHAS
GH17J010543 Enhancer 0.3 ENCODE 0.4 -24.9 -24900 0.2 CTCF ATF2 RF00017-2284 MYH2 piR-52916-013 MYH1 RF00017-2283 L13304-016 MYHAS
GH17J010469 Promoter 0.3 EPDnew 0.3 +49.1 49140 0.1 MYH4 piR-31199-134 MYH1 ENSG00000272736 MYHAS RF00017-2283 L13304-016
GH17J010512 Enhancer 0.2 ENCODE 0.4 +5.1 5136 1.2 MYH4 MYH1 piR-31199-134 RF00017-2283 L13304-016 ENSG00000272736 MYHAS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYH1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYH1

Top Transcription factor binding sites by QIAGEN in the MYH1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-2
  • Nkx2-5
  • PPAR-gamma2

Genomic Locations for MYH1 Gene

Genomic Locations for MYH1 Gene
chr17:10,492,307-10,518,719
(GRCh38/hg38)
Size:
26,413 bases
Orientation:
Minus strand
chr17:10,395,624-10,421,860
(GRCh37/hg19)
Size:
26,237 bases
Orientation:
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:
    P12882-MYH1_HUMAN
    Recommended name:
    Myosin-1
    Protein Accession:
    P12882
    Secondary Accessions:
    • Q14CA4
    • Q9Y622

    Protein attributes for MYH1 Gene

    Size:
    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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

Protein Domains for MYH1 Gene

InterPro:
Blocks:
  • IQ calmodulin-binding region
  • Myosin tail
  • Myosin N-terminal SH3-like domain
ProtoNet:

Suggested Antigen Peptide Sequences for MYH1 Gene

GenScript: Design optimal peptide antigens:
  • Myosin heavy chain, skeletal muscle, adult 1 (MYH1_HUMAN)
  • MYH1 protein (Q6PJ55_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P12882

UniProtKB/Swiss-Prot:

MYH1_HUMAN :
  • 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.
Domain:
  • 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).
Family:
  • 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

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

Gene Ontology (GO) - Molecular Function for MYH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0005516 calmodulin 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:
  • Myh1 Myh1<tm1b(KOMP)Wtsi>
  • Myh1 Myh1<tm1Lnwd>

Animal Model Products

CRISPR Products

miRNA for MYH1 Gene

miRTarBase miRNAs that target MYH1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYH1

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

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 MYH1 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 3
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 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:0014704 intercalated disc IEA --
GO:0016459 myosin complex IEA --
GO:0030016 myofibril 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

PathCards logo

SuperPathways for MYH1 Gene

SuperPathway Contained pathways
1 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
.49
.42
.32
2 PAK Pathway
.56
.56
.36
3 Actin Nucleation by ARP-WASP Complex
.66
.35
4 RhoGDI Pathway
.33
.33
5 Vesicle-mediated transport
genes like me logo Genes that share pathways with MYH1: view

Pathways by source for MYH1 Gene

6 GeneGo (Thomson Reuters) pathways for MYH1 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cell adhesion Tight junctions
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Development MAG-dependent inhibition of neurite outgrowth
  • Immune response CCR3 signaling in eosinophils
11 Qiagen pathways for MYH1 Gene
  • Actin Nucleation by ARP-WASP Complex
  • Antioxidant Action of Vitamin-C
  • Cellular Effects of Sildenafil
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions

SIGNOR curated interactions for MYH1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MYH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction IEA --
genes like me logo Genes that share ontologies with MYH1: view

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
(+-)-Blebbistatin
674289-55-5
(S)-(-)-Blebbistatin
856925-71-8

(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

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
1 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 MYH1

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
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -

Relevant External Links for MYH1 Gene

GeneLoc Exon Structure for
MYH1

Expression for MYH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MYH1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYH1

SOURCE GeneReport for Unigene cluster for MYH1 Gene:

Hs.689619

Evidence on tissue expression from TISSUES for MYH1 Gene

  • Muscle(4.9)
  • Liver(4.6)
  • Pancreas(4.2)
  • Lung(4.1)
  • Heart(4)
  • Nervous system(2.7)
  • Thyroid gland(2.3)
  • Blood(2.3)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with MYH1: 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 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
Chimpanzee
(Pan troglodytes)
Mammalia MYH1 30 31
  • 99.43 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 95 (a)
ManyToMany
-- 31
  • 92 (a)
ManyToMany
-- 31
  • 87 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia MYH1 30 31
  • 91.61 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYH1 30 31
  • 91.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Myh1 30
  • 91.27 (n)
Mouse
(Mus musculus)
Mammalia Myh1 30 17 31
  • 90.82 (n)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 91 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100495638 30
  • 77.26 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Mhc 32
  • 50 (a)
Prm 32
  • 36 (a)
Worm
(Caenorhabditis elegans)
Secernentea F58G4.1 32
  • 48 (a)
myo-3 32
  • 47 (a)
F45G2.2 32
  • 44 (a)
Y11D7A.14 32
  • 29 (a)
hcp-2 32
  • 20 (a)
hcp-1 32
  • 20 (a)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2731 30
Species where no ortholog for MYH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Squirt (Ciona savignyi)
  • 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

ENSEMBL:
Gene Tree for MYH1 (if available)
TreeFam:
Gene Tree for MYH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYH1: view image

Paralogs for MYH1 Gene

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

  • MYH1_HUMAN
  • Q6PJ55_HUMAN
genes like me logo Genes that share paralogs with MYH1: view

Variants for MYH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYH1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
872644 Uncertain Significance: not provided 10,497,766(-) C/T MISSENSE_VARIANT
872645 Uncertain Significance: not provided 10,497,900(-) C/T MISSENSE_VARIANT
872646 Uncertain Significance: not provided 10,516,212(-) G/T MISSENSE_VARIANT
872647 Uncertain Significance: not provided 10,516,480(-) T/C MISSENSE_VARIANT
rs139860229 A breast cancer sample p.Ala1445Thr

Additional dbSNP identifiers (rs#s) for MYH1 Gene

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)
MYH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYH1

SNP Genotyping and Copy Number Assay Products

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

Disorders for MYH1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MYH1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
epilepsy, idiopathic generalized 12
  • epilepsy, idiopathic generalized, susceptibility to, 12
myh-associated polyposis
  • autosomal recessive familial adenomatous polyposis
dystonia 9
  • dyt9
clubfoot
  • congenital clubfoot
myopathy, centronuclear, 1
  • cnm1
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 41
  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 41
  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 41
  4. Analysis of candidate genes in occurrence and growth of colorectal adenomas. (PMID: 19888426) Olschwang S … Bonaiti-Pellié C (Journal of oncology 2009) 3 41
  5. APC, MYH, and the correlation genotype-phenotype in colorectal polyposis. (PMID: 19169759) Lefevre JH … Tiret E (Annals of surgical oncology 2009) 3 41

Products for MYH1 Gene

Sources for MYH1 Gene