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Aliases for MYH3 Gene

Aliases for MYH3 Gene

  • Myosin, Heavy Chain 3, Skeletal Muscle, Embryonic 2 3
  • Myosin, Heavy Polypeptide 3, Skeletal Muscle, Embryonic 2 3
  • Myosin Heavy Chain, Fast Skeletal Muscle, Embryonic 3 4
  • SMHCE 3 4
  • Myosin, Skeletal, Heavy Chain, Embryonic 1 3
  • Muscle Embryonic Myosin Heavy Chain 3 2
  • Muscle Embryonic Myosin Heavy Chain 4
  • Myosin Heavy Chain 3 4
  • Heavy Chain 2
  • Embryonic 1 2
  • Skeletal 2
  • MYHC-EMB 3
  • Myosin-3 3
  • Myosin 2
  • MYHSE1 3
  • HEMHC 3

External Ids for MYH3 Gene

Previous GeneCards Identifiers for MYH3 Gene

  • GC17M010897
  • GC17M011646
  • GC17M010474
  • GC17M010732
  • GC17M010472

Summaries for MYH3 Gene

Entrez Gene Summary for MYH3 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. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYH3 Gene

MYH3 (Myosin, Heavy Chain 3, Skeletal Muscle, Embryonic) is a Protein Coding gene. Diseases associated with MYH3 include arthrogryposis, distal, type 2b and arthrogryposis, distal, type 2a. Among its related pathways are RhoGDI Pathway and ERK Signaling. GO annotations related to this gene include actin binding and microfilament motor activity. An important paralog of this gene is MYH4.

UniProtKB/Swiss-Prot for MYH3 Gene

  • Muscle contraction

Tocris Summary for MYH3 Gene

  • Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name), almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II. Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by intracellular Ca2+ concentrations.

Gene Wiki entry for MYH3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYH3 Gene

Genomics for MYH3 Gene

Regulatory Elements for MYH3 Gene

Genomic Location for MYH3 Gene

Start:
10,628,526 bp from pter
End:
10,657,309 bp from pter
Size:
28,784 bases
Orientation:
Minus strand

Genomic View for MYH3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MYH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYH3 Gene

Proteins for MYH3 Gene

  • Protein details for MYH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11055-MYH3_HUMAN
    Recommended name:
    Myosin-3
    Protein Accession:
    P11055
    Secondary Accessions:
    • Q15492

    Protein attributes for MYH3 Gene

    Size:
    1940 amino acids
    Molecular mass:
    223905 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 MYH3 Gene

Proteomics data for MYH3 Gene at MOPED

Post-translational modifications for MYH3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYH3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MYH3 Gene

Domains for MYH3 Gene

Gene Families for MYH3 Gene

HGNC:
  • MYHII :Myosins / Myosin superfamily : Class II

Suggested Antigen Peptide Sequences for MYH3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P11055

UniProtKB/Swiss-Prot:

MYH3_HUMAN :
  • P11055
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
  • Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2)
  • Contains 1 IQ domain.
  • Contains 1 myosin motor domain.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYH3: view

Function for MYH3 Gene

Molecular function for MYH3 Gene

GENATLAS Biochemistry: myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 3,200kDa,skeletal muscle,embryonic
UniProtKB/Swiss-Prot Function: Muscle contraction

Gene Ontology (GO) - Molecular Function for MYH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity NAS 1691980
GO:0003774 motor activity --
GO:0005515 protein binding --
GO:0005516 calmodulin binding NAS 16642020
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MYH3: view

Phenotypes for MYH3 Gene

GenomeRNAi human phenotypes for MYH3:
genes like me logo Genes that share phenotypes with MYH3: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MYH3 Gene

Localization for MYH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYH3 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYH3 Gene COMPARTMENTS Subcellular localization image for MYH3 gene
Compartment Confidence
cytosol 4
cytoskeleton 3
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MYH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005859 muscle myosin complex NAS 16642020
GO:0016459 myosin complex --
GO:0030017 sarcomere NAS 16642020
GO:0032982 myosin filament IEA --
genes like me logo Genes that share ontologies with MYH3: view

Pathways for MYH3 Gene

genes like me logo Genes that share pathways with MYH3: view

Interacting Proteins for MYH3 Gene

Selected Interacting proteins: P11055-MYH3_HUMAN for MYH3 Gene via MINT I2D

Gene Ontology (GO) - Biological Process for MYH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IMP 16642020
GO:0006200 obsolete ATP catabolic process --
GO:0007517 muscle organ development TAS 2771643
GO:0008152 metabolic process NAS 1691980
GO:0030048 actin filament-based movement NAS 1691980
genes like me logo Genes that share ontologies with MYH3: view

Compounds for MYH3 Gene

(4) Tocris Compounds for MYH3 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 MYH3: view

Transcripts for MYH3 Gene

Unigene Clusters for MYH3 Gene

Myosin, heavy chain 3, skeletal muscle, embryonic:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYH3 Gene

No ASD Table

Relevant External Links for MYH3 Gene

GeneLoc Exon Structure for
MYH3
ECgene alternative splicing isoforms for
MYH3

Expression for MYH3 Gene

mRNA expression in normal human tissues for MYH3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYH3 Gene

This gene is overexpressed in Muscle - Skeletal (10.0).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for MYH3 Gene

SOURCE GeneReport for Unigene cluster for MYH3 Gene Hs.440895

genes like me logo Genes that share expressions with MYH3: view

No data available for mRNA Expression by UniProt/SwissProt for MYH3 Gene

Orthologs for MYH3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYH3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYH3 35
  • 99.19 (n)
  • 99.46 (a)
MYH3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYH3 35
  • 90.67 (n)
  • 98.04 (a)
MYHC-EMBRYONIC 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYH3 35
  • 91.56 (n)
  • 98.7 (a)
MYH3 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myh3 35
  • 89.67 (n)
  • 98.2 (a)
Myh3 16
Myh3 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 84 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
ManyToMany
-- 36
  • 78 (a)
ManyToMany
-- 36
  • 85 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Myh3 35
  • 90.22 (n)
  • 98.25 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 82 (a)
ManyToMany
MYH1B 36
  • 83 (a)
ManyToMany
MYH1C 36
  • 84 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 83 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495065 35
  • 76.74 (n)
  • 84.58 (a)
Str.12038 35
fruit fly
(Drosophila melanogaster)
Insecta Mhc 37
  • 51 (a)
Prm 37
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea myo-3 37
  • 47 (a)
hcp-1 37
  • 21 (a)
C02F12.7 37
  • 21 (a)
F58G4.1 37
  • 49 (a)
F45G2.2 37
  • 42 (a)
hcp-2 37
  • 19 (a)
Y11D7A.14 37
  • 28 (a)
Species with no ortholog for MYH3:
  • 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)
  • 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 squirt (Ciona intestinalis)
  • 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 MYH3 Gene

ENSEMBL:
Gene Tree for MYH3 (if available)
TreeFam:
Gene Tree for MYH3 (if available)

Paralogs for MYH3 Gene

Paralogs for MYH3 Gene

genes like me logo Genes that share paralogs with MYH3: view

Variants for MYH3 Gene

Sequence variations from dbSNP and Humsavar for MYH3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs201595 -- 10,631,203(-) TTTTG(C/T)TGTTC intron-variant
rs201612 -- 10,658,997(-) CAGCT(C/T)GCCCT upstream-variant-2KB
rs201613 -- 10,658,553(-) AGAAT(A/T)CAAAC upstream-variant-2KB
rs201614 -- 10,658,105(-) TACCC(C/T)ATCCC upstream-variant-2KB
rs201615 -- 10,657,443(-) GGCAA(C/T)GACAA upstream-variant-2KB

Relevant External Links for MYH3 Gene

HapMap Linkage Disequilibrium report
MYH3
Human Gene Mutation Database (HGMD)
MYH3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MYH3 Gene

Disorders for MYH3 Gene

(2) OMIM Diseases for MYH3 Gene (160720)

UniProtKB/Swiss-Prot

MYH3_HUMAN
  • Arthrogryposis, distal, 2A (DA2A) [MIM:193700]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and an H-shaped dimple of the chin. {ECO:0000269 PubMed:16642020}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Arthrogryposis, distal, 2B (DA2B) [MIM:601680]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. {ECO:0000269 PubMed:16642020}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for MYH3 Gene

(1) Novoseek inferred disease relationships for MYH3 Gene

Disease -log(P) Hits PubMed IDs
prolapse 42.7 2

Relevant External Links for MYH3

Genetic Association Database (GAD)
MYH3
Human Genome Epidemiology (HuGE) Navigator
MYH3
genes like me logo Genes that share disorders with MYH3: view

Publications for MYH3 Gene

  1. Nucleotide sequence of full length human embryonic myosin heavy chain cDNA. (PMID: 2726495) Eller M.S. … Sarkar S. (Nucleic Acids Res. 1989) 2 3 4
  2. Expression and DNA sequence analysis of a human embryonic skeletal muscle myosin heavy chain gene. (PMID: 2771643) Karsch-Mizrachi I. … Leinwand L.A. (Nucleic Acids Res. 1989) 3 4
  3. Human embryonic myosin heavy chain cDNA. Interspecies sequence conservation of the myosin rod, chromosomal locus and isoform specific transcription of the gene. (PMID: 2806546) Eller M.S. … Sarkar S. (FEBS Lett. 1989) 3 4
  4. Skeletal muscle heavy-chain polypeptide 3 and myosin binding protein H in the pubococcygeus muscle in patients with and without pelvic organ prolapse. (PMID: 16579921) Hundley A.F. … Visco A.G. (Am. J. Obstet. Gynecol. 2006) 3 23
  5. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman- Sheldon syndrome and Sheldon-Hall syndrome. (PMID: 16642020) Toydemir R.M. … Bamshad M.J. (Nat. Genet. 2006) 3 4

Products for MYH3 Gene

Sources for MYH3 Gene

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