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MGP002011

UniProt Annotations

Entry Information
Gene Namemyosin, heavy chain 11, smooth muscle
Protein EntryMYH11_HUMAN
UniProt IDP35749
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; Synonyms=SM-A; IsoId=P35749-1; Sequence=Displayed; Name=2; Synonyms=SM-B1; IsoId=P35749-2; Sequence=VSP_043017; Note=This isoform with a 7 AA insert in the head domain is predominantly expressed in rapidly contracting phasic muscles.; Name=3; Synonyms=SM-B2; IsoId=P35749-3; Sequence=VSP_043017, VSP_043018; Note=This isoform with a 7 AA insert in the head domain is predominantly expressed in rapidly contracting phasic muscles.; Name=4; IsoId=P35749-4; Sequence=VSP_043018; Note=No experimental confirmation available.;
DiseaseAortic aneurysm, familial thoracic 4 (AAT4) [MIM:132900]: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269|PubMed:16444274}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNote=A chromosomal aberration involving MYH11 is found in acute myeloid leukemia of M4EO subtype. Pericentric inversion inv(16)(p13;q22). The inversion produces a fusion protein consisting of the 165 N-terminal residues of CBF-beta (PEPB2) and the tail region of MYH11.
DomainEach 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).
DomainThe rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
FunctionMuscle contraction.
InteractionO14950:MYL12B; NbExp=2; IntAct=EBI-1052928, EBI-1642165;
Sequence CautionSequence=BAA74889.2; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. {ECO:0000305}.
SimilarityContains 1 IQ domain. {ECO:0000255|PROSITE- ProRule:PRU00116}.
SimilarityContains 1 myosin motor domain. {ECO:0000305}.
Subcellular LocationMelanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils.
SubunitMuscle 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).
Tissue SpecificitySmooth muscle; expressed in the umbilical artery, bladder, esophagus and trachea. Isoform 1 is mostly found in slowly contracting tonic muscles. {ECO:0000269|PubMed:16000639}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MYH11ID43.html";
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