Homo sapiens Protein: MYH11 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-16255.6 | ||||||||||||||||||
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 | ENSP00000300036 | ||||||||||||||||||
InnateDB Gene | IDBG-16251 (MYH11) | ||||||||||||||||||
Protein Structure |
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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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF00612
PF00063 PF01576 PF02736 |
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PRINTS |
PR00193
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PIRSF | |||||||||||||||||||
SMART |
SM00015
SM00242 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P35749 | ||||||||||||||||||
PhosphoSite | PhosphoSite-P35749 | ||||||||||||||||||
TrEMBL | Q68D89 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 4629 | ||||||||||||||||||
UniGene | Hs.460109 | ||||||||||||||||||
RefSeq | NP_002465 | ||||||||||||||||||
HUGO | HGNC:7569 | ||||||||||||||||||
OMIM | 160745 | ||||||||||||||||||
CCDS | CCDS10565 | ||||||||||||||||||
HPRD | 01174 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB020673 AC024120 AC026401 AC130651 AF001548 AY520816 AY520817 BC080545 BC101677 BC104906 BC143364 CH471226 CR749516 D10667 GU143399 GU143400 U91323 X69292 | ||||||||||||||||||
GenPept | AAC31665 AAC35212 AAH80545 AAI01678 AAI04907 AAI43365 AAS98910 AAS98911 ACZ58373 ACZ58374 BAA74889 CAA49154 CAH18331 EAW53924 EAW53925 EAW53926 | ||||||||||||||||||