Human Gene MYH11 (ENST00000300036.6) from GENCODE V44
Description: Homo sapiens myosin heavy chain 11 (MYH11), transcript variant SM1A, mRNA. (from RefSeq NM_002474) RefSeq Summary (NM_002474): The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000300036.6 Gencode Gene: ENSG00000133392.18 Transcript (Including UTRs) Position: hg38 chr16:15,703,135-15,857,028 Size: 153,894 Total Exon Count: 41 Strand: - Coding Region Position: hg38 chr16:15,703,991-15,838,252 Size: 134,262 Coding Exon Count: 40
ID:MYH11_HUMAN DESCRIPTION: RecName: Full=Myosin-11; AltName: Full=Myosin heavy chain 11; AltName: Full=Myosin heavy chain, smooth muscle isoform; AltName: Full=SMMHC; FUNCTION: Muscle contraction. SUBUNIT: 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). SUBCELLULAR LOCATION: Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils. TISSUE SPECIFICITY: Smooth muscle; expressed in the umbilical artery, bladder, esophagus and trachea. Isoform 1 is mostly found in slowly contracting tonic muscles. 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. DOMAIN: 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). DISEASE: Note=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. DISEASE: Defects in MYH11 are the cause of familial aortic aneurysm thoracic type 4 (AAT4) [MIM:132900]; also known as familial thoracic aortic aneurysm and dissection (TAAD). Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are 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. Patients with AAT4 show marked aortic stiffness. Pathological aortas show large areas of medial degeneration with very low smooth muscle cells content. SIMILARITY: Contains 1 IQ domain. SIMILARITY: Contains 1 myosin head-like domain. SEQUENCE CAUTION: Sequence=BAA74889.2; Type=Erroneous initiation; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MYH11ID43.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYH11";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P35749
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.