MYH11

MYH11
Identifiers
Aliases	MYH11, AAT4, FAA4, SMHC, SMMHC, myosin, heavy chain 11, smooth muscle, myosin heavy chain 11
External IDs	MGI: 102643 HomoloGene: 128512 GeneCards: MYH11
Gene location (Human) Chr. Chromosome 16 (human)[1] Band No data available Start 15,703,172 bp[1] End 15,857,033 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band No data available Start 14,194,527 bp[2] End 14,291,408 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • nucleotide binding • protein binding • ATP binding • actin binding • motor activity • structural constituent of muscle • actin filament binding • calmodulin binding Cellular component • myosin filament • myosin complex • melanosome • muscle myosin complex • cytosol • extracellular exosome Biological process • cardiac muscle fiber development • skeletal muscle myosin thick filament assembly • smooth muscle contraction • elastic fiber assembly • muscle contraction Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4629	17880
Ensembl	ENSG00000133392 ENSG00000276480	ENSMUSG00000018830
UniProt	P35749	O08638
RefSeq (mRNA)	NM_001040113 NM_001040114 NM_002474 NM_022844	NM_001161775 NM_013607
RefSeq (protein)	NP_001035202 NP_001035203 NP_002465 NP_074035 NP_002465.1 NP_074035.1	NP_001155247 NP_038635
Location (UCSC)	Chr 16: 15.7 – 15.86 Mb	Chr 16: 14.19 – 14.29 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Myosin-11 is a protein that in humans is encoded by the MYH11 gene.^[5][6]

Function

Myosin-11 is a smooth muscle myosin belonging to the myosin heavy chain family. Myosin-11 is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits.

It is a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP.

Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation.^[6]

Clinical significance

Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) can be inherited in isolation or in association with genetic syndromes, such as Marfan syndrome and Loeys-Dietz syndrome. When TAAD occurs in the absence of syndromic features, it is inherited in an autosomal dominant manner with decreased penetrance and variable expression, the disease is referred to as familial TAAD. Familial TAAD exhibits significant clinical and genetic heterogeneity. Mutations in MYH11 have been described in individuals with TAAD with patent ductus arteriosus (PDA). Of individuals with TAAD, approximately 4% have mutations in TGFBR2, and approximately 1-2% have mutations in either TGFBR1 or MYH11. In addition, FBN1 mutations have also been reported in individuals with TAAD. Mutations within the SMAD3 gene have recently been reported in patients with a syndromic form of aortic aneurysms and dissections with early onset osteoarthritis. SMAD3 mutations are thought to account for approximately 2% of familial TAAD. Additionally, mutations in the ACTA2 gene are thought to account for approximately 10-14% of familial TAAD.^[7]

Acute myeloid leukemia

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.

Intestinal cancer

MYH11 mutations appear to contribute to human intestinal cancer.^[8]

References

External links

• GeneReviews/NIH/NCBI/UW entry on Thoracic Aortic Aneurysms and Aortic Dissections

Further reading