MYH3 Gene Summary [Human]

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]

Details

Type
Retained Intron
Official Symbol
MYH3
Official Name
myosin heavy chain 3 [Source:HGNC Symbol;Acc:HGNC:7573]
Ensembl ID
ENSG00000109063
Bio databases IDs NCBI: 4621 Ensembl: ENSG00000109063
Aliases myosin heavy chain 3, myosin, skeletal, heavy chain, embryonic 1, muscle embryonic myosin heavy chain 3
Synonyms CPSFS1A, CPSFS1B, CPSKF1A, CPSKF1B, DA2A, DA2B, DA2B3, DA8, dMHC, Embryonic Myosin, Embryonic myosin heavy chain, HEMHC, Mhc3, Mhc-emb, MYHC-EMB, Myhs-e, MYHSE1, myosin heavy chain 3, myosin, heavy polypeptide 3, skeletal muscle, embryonic, RNMHCG, SMHCE
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MYH3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • myosin phosphatase
  • Synaptonemal complex protein 1 (SCP-1)
  • microfilament motor protein
  • Myosin N-terminal SH3-like domain
  • helix-rich Mycoplasma protein
  • enzyme
  • ATPase
  • Laminin Domain I
  • chromosome segregation protein SMC, common bacterial type
  • Tropomyosin
  • HOOK protein coiled-coil region
  • chromosome segregation protein SMC, primarily archaeal type
  • exonuclease SbcC
  • Weak chloroplast movement under blue light
  • Myosin and Kinesin motor domain
  • Hyaluronan mediated motility receptor N-terminal
  • rad50
  • Myosin tail
  • Calcium binding and coiled-coil domain (CALCOCO1) like
  • Myosin head (motor domain)
  • Alpha helical coiled-coil rod protein (HCR)
  • actin filament binding
  • RecF/RecN/SMC N terminal domain
  • Intermediate filament protein
  • Myosin

Pathways

Biological processes and signaling networks where the MYH3 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • MYH3-related disorder
  • hereditary disorder
  • spondylocarpotarsal synostosis syndrome
  • autosomal dominant multiple pterygium syndrome
  • fibrosis
  • contractures, pterygia and variable skeletal fusions syndrome 1B
  • distal arthrogryposis
  • cryptorchidism
  • distal arthrogryposis type 2B3
  • freeman-sheldon syndrome
regulated by
regulates
role in cell
  • apoptosis
  • quantity
  • number
  • size
  • accumulation in
  • sliding
  • diameter

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cytosol
  • myofibrils
  • thin filaments

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MYH3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • muscle organ development
  • embryonic limb morphogenesis
  • skeletal muscle contraction
  • muscle contraction
  • ATP metabolic process
  • sarcomere organization
  • actin filament-based movement
  • face morphogenesis
  • muscle filament sliding

Cellular Component

Where in the cell the gene product is active
  • extracellular vesicular exosome
  • muscle myosin complex
  • cytoplasm
  • myosin II complex
  • myosin filament
  • cytosol
  • sarcomere

Molecular Function

What the gene product does at the molecular level
  • actin filament binding
  • ATPase activity
  • ATP binding
  • calmodulin binding
  • microfilament motor activity
  • myosin phosphatase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.