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 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr16:15,703,135-15,857,028)mRNA (may differ from genome)Protein (1972 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards

-  Comments and Description Text from UniProtKB
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="";
WEB RESOURCE: Name=GeneReviews; URL="";

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: MYH11
Diseases sorted by gene-association score: aortic aneurysm, familial thoracic 4* (1230), myh11-related thoracic aortic aneurysms and aortic dissections* (500), moved to 155310* (247), acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)* (247), thoracic aortic aneurysms and aortic dissections* (141), aortic aneurysm, familial thoracic 1* (34), myeloid leukemia (23), aortic aneurysm (20), aneurysm (15), ectopic pregnancy (11), aleukemic leukemia cutis (10), myopericytoma (10), intestinal pseudo-obstruction (9), patent ductus arteriosus (9), intraductal papilloma (8), lymphoplasmacytic lymphoma (7), visceral myopathy (6), myoma (6), subclavian artery aneurysm (6), polymorphous low-grade adenocarcinoma (6), hypertrichotic osteochondrodysplasia cantu type (4), leukemia, acute myeloid (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3467.64 RPKM in Esophagus - Muscularis
Total median expression: 18853.49 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -29.00105-0.276 Picture PostScript Text
3' UTR -201.00856-0.235 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000048 - IQ_motif_EF-hand-BS
IPR001609 - Myosin_head_motor_dom
IPR004009 - Myosin_N
IPR002928 - Myosin_tail

Pfam Domains:
PF00063 - Myosin head (motor domain)
PF02736 - Myosin N-terminal SH3-like domain
PF01576 - Myosin tail

ModBase Predicted Comparative 3D Structure on P35749
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003774 motor activity
GO:0003777 microtubule motor activity
GO:0003779 actin binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0008017 microtubule binding
GO:0008307 structural constituent of muscle
GO:0051015 actin filament binding

Biological Process:
GO:0006936 muscle contraction
GO:0006939 smooth muscle contraction
GO:0007018 microtubule-based movement
GO:0030241 skeletal muscle myosin thick filament assembly
GO:0048251 elastic fiber assembly
GO:0048739 cardiac muscle fiber development

Cellular Component:
GO:0005829 cytosol
GO:0005859 muscle myosin complex
GO:0016459 myosin complex
GO:0032982 myosin filament
GO:0042470 melanosome
GO:0070062 extracellular exosome

-  Descriptions from all associated GenBank mRNAs
  EU489063 - Homo sapiens myosin heavy chain 11 smooth muscle isoform (MYH11) mRNA, complete cds.
GQ900967 - Homo sapiens clone HEL-T-79 epididymis secretory sperm binding protein mRNA, complete cds.
AB020673 - Homo sapiens KIAA0866 mRNA for KIAA0866 protein.
AY520816 - Homo sapiens smooth muscle myosin heavy chain isoform SM1 (MYH11) mRNA, complete cds; alternatively spliced.
AY520817 - Homo sapiens smooth muscle myosin heavy chain isoform SM2 (MYH11) mRNA, complete cds; alternatively spliced.
X69292 - H.sapiens mRNA for smooth muscle myosin.
D10667 - Homo sapiens mRNA for smooth muscle myosin heavy chain, partial cds.
BX641087 - Homo sapiens mRNA; cDNA DKFZp686D19237 (from clone DKFZp686D19237).
AB384538 - Synthetic construct DNA, clone: pF1KA0866, Homo sapiens MYH11 gene for myosin-11, complete cds, without stop codon, in Flexi system.
BC143364 - Homo sapiens myosin, heavy chain 11, smooth muscle, mRNA (cDNA clone MGC:176886 IMAGE:9051869), complete cds.
BC101677 - Homo sapiens myosin, heavy chain 11, smooth muscle, mRNA (cDNA clone MGC:126726 IMAGE:8069183), complete cds.
BC104906 - Homo sapiens myosin, heavy chain 11, smooth muscle, mRNA (cDNA clone MGC:132566 IMAGE:8143909), complete cds.
AK308389 - Homo sapiens cDNA, FLJ98337.
AK092551 - Homo sapiens cDNA FLJ35232 fis, clone PROST2001521, highly similar to MYOSIN HEAVY CHAIN, SMOOTH MUSCLE ISOFORM.
AX747595 - Sequence 1120 from Patent EP1308459.
BC080545 - Homo sapiens myosin, heavy chain 11, smooth muscle, mRNA (cDNA clone IMAGE:5814690), partial cds.
JD368351 - Sequence 349375 from Patent EP1572962.
JD464262 - Sequence 445286 from Patent EP1572962.
JD279770 - Sequence 260794 from Patent EP1572962.
JD558181 - Sequence 539205 from Patent EP1572962.
JD413523 - Sequence 394547 from Patent EP1572962.
AF013570 - Homo sapiens smooth muscle myosin heavy chain SM2 mRNA, alternatively spliced, partial cds.
AF020091 - Homo sapiens smooth muscle myosin heavy chain SM1 mRNA, alternatively spliced, partial cds.
JD149781 - Sequence 130805 from Patent EP1572962.
JD364231 - Sequence 345255 from Patent EP1572962.
JD040781 - Sequence 21805 from Patent EP1572962.
JD412270 - Sequence 393294 from Patent EP1572962.
JD547869 - Sequence 528893 from Patent EP1572962.
JD393670 - Sequence 374694 from Patent EP1572962.
JD504050 - Sequence 485074 from Patent EP1572962.
JD083083 - Sequence 64107 from Patent EP1572962.
JD509258 - Sequence 490282 from Patent EP1572962.
JD104349 - Sequence 85373 from Patent EP1572962.
JD517097 - Sequence 498121 from Patent EP1572962.
JD149187 - Sequence 130211 from Patent EP1572962.
JD464095 - Sequence 445119 from Patent EP1572962.
JD388016 - Sequence 369040 from Patent EP1572962.
JD435152 - Sequence 416176 from Patent EP1572962.
JD335297 - Sequence 316321 from Patent EP1572962.
JD412087 - Sequence 393111 from Patent EP1572962.
JD487468 - Sequence 468492 from Patent EP1572962.
JD144703 - Sequence 125727 from Patent EP1572962.
JD278367 - Sequence 259391 from Patent EP1572962.
JD117214 - Sequence 98238 from Patent EP1572962.
JD365915 - Sequence 346939 from Patent EP1572962.
JD301728 - Sequence 282752 from Patent EP1572962.
JD036418 - Sequence 17442 from Patent EP1572962.
JD082135 - Sequence 63159 from Patent EP1572962.
JD509045 - Sequence 490069 from Patent EP1572962.
JD349589 - Sequence 330613 from Patent EP1572962.
S67238 - smooth muscle myosin heavy chain isoform SM2 [human, umbilical cord, fetal aorta, mRNA Partial, 1078 nt].
S67240 - smooth muscle myosin heavy chain isoform SM1 [human, umbilical cord, fetal aorta, mRNA Partial, 1039 nt].
JD339268 - Sequence 320292 from Patent EP1572962.
JD364874 - Sequence 345898 from Patent EP1572962.
CR749516 - Homo sapiens mRNA; cDNA DKFZp686D10126 (from clone DKFZp686D10126).
AK311080 - Homo sapiens cDNA, FLJ18122.
MH401094 - Homo sapiens nonfunctional CBFB/MYH11 fusion protein mRNA, partial sequence.
AF249898 - Homo sapiens PCBFbeta/MYH11A chimeric fusion protein (CBFbeta/MYH11A) mRNA, partial cds.
AF249897 - Homo sapiens PCBFb-MYH11d chimeric fusion protein (CBFB/MYH11D) mRNA, partial cds.
AK125033 - Homo sapiens cDNA FLJ43043 fis, clone BRTHA3003449, highly similar to MYOSIN HEAVY CHAIN, SMOOTH MUSCLE ISOFORM.
JD137971 - Sequence 118995 from Patent EP1572962.
BC031040 - Homo sapiens myosin, heavy chain 11, smooth muscle, mRNA (cDNA clone IMAGE:5272844), complete cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04270 - Vascular smooth muscle contraction
hsa04530 - Tight junction
hsa05416 - Viral myocarditis

Reactome (by CSHL, EBI, and GO)

Protein P35749 (Reactome details) participates in the following event(s):

R-HSA-445700 Myosin Binds ATP
R-HSA-445704 Calcium Binds Caldesmon
R-HSA-445705 Release Of ADP From Myosin
R-HSA-445699 ATP Hydrolysis By Myosin
R-HSA-419197 Myosin regulatory light chain phosphorylation by ROCK
R-HSA-3928616 Activated ROCK phosphorylates MRLCs
R-HSA-5668932 PAK2 phosphorylates myosin regulatory light chain (MRLC)
R-HSA-5668978 MYLK (MLCK) phosphorylates MRLCs of the non-muscle myosin II complex
R-HSA-5671919 Activated CIT phosphorylates MRLCs
R-HSA-419232 Myosin phosphatase dephosphorylates myosin regulatory light chain
R-HSA-445355 Smooth Muscle Contraction
R-HSA-397014 Muscle contraction
R-HSA-416572 Sema4D induced cell migration and growth-cone collapse
R-HSA-5627117 RHO GTPases Activate ROCKs
R-HSA-3928663 EPHA-mediated growth cone collapse
R-HSA-5627123 RHO GTPases activate PAKs
R-HSA-5625900 RHO GTPases activate CIT
R-HSA-5625740 RHO GTPases activate PKNs
R-HSA-400685 Sema4D in semaphorin signaling
R-HSA-195258 RHO GTPase Effectors
R-HSA-2682334 EPH-Ephrin signaling
R-HSA-373755 Semaphorin interactions
R-HSA-194315 Signaling by Rho GTPases
R-HSA-422475 Axon guidance
R-HSA-162582 Signal Transduction
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000300036.1, ENST00000300036.2, ENST00000300036.3, ENST00000300036.4, ENST00000300036.5, KIAA0866, MYH11_HUMAN, NM_002474, O00396, O94944, P35749, P78422, Q3MIV8, Q3MNF0, Q3MNF1, uc002ddy.1, uc002ddy.2, uc002ddy.3, uc002ddy.4, uc002ddy.5
UCSC ID: ENST00000300036.6
RefSeq Accession: NM_002474
Protein: P35749 (aka MYH11_HUMAN or MYHB_HUMAN)
CCDS: CCDS10566.1, CCDS45424.1, CCDS10565.1, CCDS45423.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MYH11:
taa (Heritable Thoracic Aortic Disease Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.