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Aliases for MYH11 Gene

Aliases for MYH11 Gene

  • Myosin Heavy Chain 11 2 3 4
  • Myosin, Heavy Polypeptide 11, Smooth Muscle 2 3
  • Myosin Heavy Chain, Smooth Muscle Isoform 3 4
  • Myosin, Heavy Chain 11, Smooth Muscle 3 5
  • SMMHC 3 4
  • Myosin-11 3
  • KIAA0866 4
  • AAT4 3
  • FAA4 3
  • SMHC 3

External Ids for MYH11 Gene

Previous GeneCards Identifiers for MYH11 Gene

  • GC16M015624
  • GC16M015079
  • GC16M015724
  • GC16M015763
  • GC16M015190

Summaries for MYH11 Gene

Entrez Gene Summary for MYH11 Gene

  • 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]

GeneCards Summary for MYH11 Gene

MYH11 (Myosin Heavy Chain 11) is a Protein Coding gene. Diseases associated with MYH11 include Aortic Aneurysm, Familial Thoracic 4 and Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16;16)(P13;Q22). Among its related pathways are Smooth Muscle Contraction and Signaling by GPCR. GO annotations related to this gene include calmodulin binding and motor activity. An important paralog of this gene is MYH9.

UniProtKB/Swiss-Prot for MYH11 Gene

  • Muscle contraction.

Tocris Summary for MYH11 Gene

  • Myosins are a large family of motor proteins that share the common features of ATP hydrolysis (ATPase enzyme activity), actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells, almost all eukaryotic cells are known to contain myosins.

Gene Wiki entry for MYH11 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYH11 Gene

Genomics for MYH11 Gene

Regulatory Elements for MYH11 Gene

Enhancers for MYH11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around MYH11 on UCSC Golden Path with GeneCards custom track

Genomic Location for MYH11 Gene

Chromosome:
16
Start:
15,703,135 bp from pter
End:
15,857,033 bp from pter
Size:
153,899 bases
Orientation:
Minus strand

Genomic View for MYH11 Gene

Genes around MYH11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYH11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYH11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYH11 Gene

Proteins for MYH11 Gene

  • Protein details for MYH11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35749-MYH11_HUMAN
    Recommended name:
    Myosin-11
    Protein Accession:
    P35749
    Secondary Accessions:
    • D2JYH7
    • O00396
    • O94944
    • P78422
    • Q3MIV8
    • Q3MNF0
    • Q3MNF1

    Protein attributes for MYH11 Gene

    Size:
    1972 amino acids
    Molecular mass:
    227339 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=BAA74889.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MYH11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYH11 Gene

Post-translational modifications for MYH11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYH11 Gene

No data available for DME Specific Peptides for MYH11 Gene

Domains & Families for MYH11 Gene

Gene Families for MYH11 Gene

Suggested Antigen Peptide Sequences for MYH11 Gene

Graphical View of Domain Structure for InterPro Entry

P35749

UniProtKB/Swiss-Prot:

MYH11_HUMAN :
  • 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.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
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.
  • Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).
  • Contains 1 IQ domain.
  • Contains 1 myosin motor domain.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYH11: view

Function for MYH11 Gene

Molecular function for MYH11 Gene

GENATLAS Biochemistry:
myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 11,smooth muscle,altered in acute myeloid leukemia (AML-M4Eo) with inversion inv(16)(p13-q22),forming chimeric protein with CBFB
UniProtKB/Swiss-Prot Function:
Muscle contraction.

Gene Ontology (GO) - Molecular Function for MYH11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0005515 protein binding IPI 19328794
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
GO:0008307 structural constituent of muscle IMP 16444274
genes like me logo Genes that share ontologies with MYH11: view
genes like me logo Genes that share phenotypes with MYH11: view

Human Phenotype Ontology for MYH11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYH11 Gene

MGI Knock Outs for MYH11:

Animal Model Products

CRISPR Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYH11 Gene

Localization for MYH11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYH11 Gene

Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYH11 Gene COMPARTMENTS Subcellular localization image for MYH11 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 4
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MYH11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005859 muscle myosin complex TAS 7684189
GO:0032982 myosin filament IEA --
GO:0042470 melanosome IEA --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with MYH11: view

Pathways & Interactions for MYH11 Gene

genes like me logo Genes that share pathways with MYH11: view

Gene Ontology (GO) - Biological Process for MYH11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS --
GO:0006939 smooth muscle contraction ISS --
GO:0030241 skeletal muscle myosin thick filament assembly ISS --
GO:0048251 elastic fiber assembly IMP 16444274
GO:0048739 cardiac muscle fiber development IMP 16444274
genes like me logo Genes that share ontologies with MYH11: view

No data available for SIGNOR curated interactions for MYH11 Gene

Drugs & Compounds for MYH11 Gene

(8) Drugs for MYH11 Gene - From: DrugBank, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tetrafluoroaluminate Ion Experimental Pharma Target 0
(R)-(+)-Blebbistatin Pharma non-muscle myosin II ATPases inhibitor, cell-permeable, Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) 0
BTS Pharma Selective inhibitor of skeletal muscle myosin II ATPase activity 0

(9) Additional Compounds for MYH11 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Blebbistatin
674289-55-5
(S)-(-)-Blebbistatin
856925-71-8

(4) Tocris Compounds for MYH11 Gene

Compound Action Cas Number
(+-)-Blebbistatin Selective inhibitor of myosin II ATPase activity 674289-55-5
(R)-(+)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) 1177356-70-5
(S)-(-)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760) 856925-71-8
BTS Selective inhibitor of skeletal muscle myosin II ATPase activity 1576-37-0
genes like me logo Genes that share compounds with MYH11: view

Transcripts for MYH11 Gene

Unigene Clusters for MYH11 Gene

Myosin, heavy chain 11, smooth muscle:
Representative Sequences:

CRISPR Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYH11 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19a · 19b ^ 20a ·
SP1: -
SP2: -
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12: -
SP13:
SP14:
SP15:
SP16:

ExUns: 20b ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28a · 28b · 28c ^ 29
SP1:
SP2:
SP3: -
SP4:
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: -
SP14:
SP15:
SP16:

Relevant External Links for MYH11 Gene

GeneLoc Exon Structure for
MYH11
ECgene alternative splicing isoforms for
MYH11

Expression for MYH11 Gene

mRNA expression in normal human tissues for MYH11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYH11 Gene

This gene is overexpressed in Esophagus - Muscularis (x8.8), Esophagus - Gastroesophageal Junction (x6.7), Colon - Sigmoid (x6.5), Artery - Tibial (x5.8), and Bladder (x4.8).

Protein differential expression in normal tissues from HIPED for MYH11 Gene

This gene is overexpressed in Colon muscle (22.7), Urinary Bladder (16.0), Cardia (7.2), and Rectum (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MYH11 Gene



Protein tissue co-expression partners for MYH11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MYH11 Gene:

MYH11

SOURCE GeneReport for Unigene cluster for MYH11 Gene:

Hs.460109

mRNA Expression by UniProt/SwissProt for MYH11 Gene:

P35749-MYH11_HUMAN
Tissue specificity: Smooth muscle; expressed in the umbilical artery, bladder, esophagus and trachea. Isoform 1 is mostly found in slowly contracting tonic muscles.
genes like me logo Genes that share expression patterns with MYH11: view

Primer Products

Orthologs for MYH11 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MYH11 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MYH11 34
  • 91.53 (n)
  • 96.86 (a)
MYH11 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYH11 34
  • 91.68 (n)
  • 97.83 (a)
MYH11 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myh11 34
  • 88.12 (n)
  • 96.5 (a)
Myh11 16
Myh11 35
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC453949 34
  • 99.29 (n)
  • 99.78 (a)
MYH11 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myh11 34
  • 87.54 (n)
  • 95.94 (a)
oppossum
(Monodelphis domestica)
Mammalia MYH11 35
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYH11 35
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYH11 34
  • 78.17 (n)
  • 89.78 (a)
MYH11 35
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYH11 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490639 34
  • 74.59 (n)
  • 85.76 (a)
zebrafish
(Danio rerio)
Actinopterygii myh11a 34
  • 74.54 (n)
  • 80.9 (a)
myh11a 35
  • 81 (a)
OneToMany
myh11b 35
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta zip 36
  • 60 (a)
zip 35
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C02F12.7 36
  • 22 (a)
F45G2.2 36
  • 40 (a)
hcp-2 36
  • 21 (a)
nmy-1 36
  • 50 (a)
Y11D7A.14 36
  • 28 (a)
hum-9 35
  • 31 (a)
ManyToMany
nmy-1 35
  • 50 (a)
ManyToMany
nmy-2 35
  • 44 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO1 35
  • 28 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14898 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4398 35
  • 37 (a)
ManyToMany
Species where no ortholog for MYH11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYH11 Gene

ENSEMBL:
Gene Tree for MYH11 (if available)
TreeFam:
Gene Tree for MYH11 (if available)

Paralogs for MYH11 Gene

Paralogs for MYH11 Gene

genes like me logo Genes that share paralogs with MYH11: view

Variants for MYH11 Gene

Sequence variations from dbSNP and Humsavar for MYH11 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs16967494 - 15,727,006(+) GTCTG(C/T)GTTCT reference, missense
VAR_030240 -
VAR_030241 -
VAR_031735 Aortic aneurysm, familial thoracic 4 (AAT4)
rs34263860 - 15,735,562(+) CTGAG(C/T)GATTT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MYH11 Gene

Variant ID Type Subtype PubMed ID
dgv4924n54 CNV gain 21841781
dgv4925n54 CNV loss 21841781
dgv796e212 CNV loss 25503493
esv1484275 CNV deletion 17803354
esv1985052 CNV deletion 18987734
esv22836 CNV gain 19812545
esv2714015 CNV deletion 23290073
esv2714017 CNV deletion 23290073
esv2714019 CNV deletion 23290073
esv2714020 CNV deletion 23290073
esv2714021 CNV deletion 23290073
esv3582042 CNV loss 25503493
esv3582043 CNV loss 25503493
esv3638041 CNV gain 21293372
esv995232 CNV deletion 20482838
nsv1047898 CNV loss 25217958
nsv1049647 CNV gain+loss 25217958
nsv1113759 CNV deletion 24896259
nsv1113760 CNV deletion 24896259
nsv1125134 CNV deletion 24896259
nsv1742 CNV insertion 18451855
nsv435664 CNV deletion 17901297
nsv457428 CNV gain 19166990
nsv469626 CNV loss 16826518
nsv471085 CNV gain 18288195
nsv477359 CNV novel sequence insertion 20440878
nsv833149 CNV loss 17160897
nsv9361 CNV gain 18304495

Variation tolerance for MYH11 Gene

Residual Variation Intolerance Score: 2.34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.30; 85.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYH11 Gene

Human Gene Mutation Database (HGMD)
MYH11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYH11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH11 Gene

Disorders for MYH11 Gene

MalaCards: The human disease database

(20) MalaCards diseases for MYH11 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
aortic aneurysm, familial thoracic 4
  • aat4
acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
  • acute myelomonocytic leukemia
myh11-related thoracic aortic aneurysms and aortic dissections
  • aortic aneurysm, familial thoracic 4
myeloid leukemia
  • leukemia myelogenous
aortic aneurysm
  • abdominal aortic aneurysm, ruptured
- elite association - COSMIC cancer census association via MalaCards
Search MYH11 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYH11_HUMAN
  • Aortic 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.
  • 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.

Relevant External Links for MYH11

Genetic Association Database (GAD)
MYH11
Human Genome Epidemiology (HuGE) Navigator
MYH11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYH11
genes like me logo Genes that share disorders with MYH11: view

No data available for Genatlas for MYH11 Gene

Publications for MYH11 Gene

  1. Human smooth muscle myosin heavy chain gene mapped to chromosomal region 16q12. (PMID: 7684189) Matsuoka R. … Takao A. (Am. J. Med. Genet. 1993) 2 3 4 22 65
  2. Somatic mutation analysis of MYH11 in breast and prostate cancer. (PMID: 18796164) Alhopuro P. … Aaltonen L.A. (BMC Cancer 2008) 3 22 46 65
  3. Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct. (PMID: 17956658) Zhu L. … Jeunemaitre X. (Cardiol Young 2007) 3 22 46 65
  4. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. (PMID: 16444274) Zhu L. … Jeunemaitre X. (Nat. Genet. 2006) 3 4 22 65
  5. Unregulated smooth-muscle myosin in human intestinal neoplasia. (PMID: 18391202) Alhopuro P. … Aaltonen L.A. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 22 65

Products for MYH11 Gene

Sources for MYH11 Gene

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