InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MYH11

Summary

InnateDB Protein

IDBP-370229.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MYH11

Protein Name

myosin, heavy chain 11, smooth muscle

Synonyms

AAT4; FAA4; SMHC; SMMHC;

Species

Homo sapiens

Ensembl Protein

ENSP00000407821

InnateDB Gene

IDBG-16251 (MYH11)

Protein Structure

UniProt Annotation

Function

Muscle contraction.

Subcellular Localization

Melanosome {ECO:0000269PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils.

Disease Associations

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.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:0000269PubMed:16444274}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Smooth muscle; expressed in the umbilical artery, bladder, esophagus and trachea. Isoform 1 is mostly found in slowly contracting tonic muscles. {ECO:0000269PubMed:16000639}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.

Experimentally validated
Total	24 [view]
Protein-Protein	24 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003774	motor activity
GO:0005515	protein binding
GO:0005516	calmodulin binding
GO:0005524	ATP binding
GO:0008307	structural constituent of muscle
GO:0051015	actin filament binding

Biological Process

GO:0006936	muscle contraction
GO:0006939	smooth muscle contraction
GO:0007411	axon guidance
GO:0008152	metabolic process
GO:0016192	vesicle-mediated transport
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:0016020	membrane
GO:0016459	myosin complex
GO:0032982	myosin filament
GO:0042470	melanosome

Protein Structure and Domains

PDB ID

InterPro

IPR000048 IQ motif, EF-hand binding site
IPR001609 Myosin head, motor domain
IPR002928 Myosin tail
IPR004009 Myosin, N-terminal, SH3-like
IPR009053 Prefoldin
IPR010989 t-SNARE
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00612
PF00063
PF01576
PF02736

PRINTS

PR00193

PIRSF

SMART

SM00015
SM00242

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt