P35749 (MYH11_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 142.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Myosin-11 Alternative name(s): Myosin heavy chain 11 Myosin heavy chain, smooth muscle isoform SMMHC | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1972 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Muscle contraction. |
| Subunit 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). |
| Subcellular location | Melanosome. Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils. Ref.11 |
| Tissue specificity | Smooth muscle; expressed in the umbilical artery, bladder, esophagus and trachea. Isoform 1 is mostly found in slowly contracting tonic muscles. Ref.1 |
| 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. 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). |
| Involvement in disease | A chromosomal aberration involving MYH11 is found in acute myeloid leukemia of M4EO subtype. Pericentric inversion inv16(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. Familial aortic aneurysm 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. |
| Sequence similarities | Contains 1 IQ domain. Contains 1 myosin head-like domain. |
| Sequence caution | The sequence BAA74889.2 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| MYL12B | O14950 | 2 | EBI-1052928,EBI-1642165 |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P35749-1) Also known as: SM-A; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: P35749-2) Also known as: SM-B1; The sequence of this isoform differs from the canonical sequence as follows: 211-211: T → TQGPSFAY | ||||||
| Note: This isoform with a 7 AA insert in the head domain is predominantly expressed in rapidly contracting phasic muscles. | ||||||
| Isoform 3 (identifier: P35749-3) Also known as: SM-B2; The sequence of this isoform differs from the canonical sequence as follows: 211-211: T → TQGPSFAY 1930-1972: RGNETSFVPSRRSGGRRVIENADGSEEETDTRDADFNGTKASE → GPPPQETSQ | ||||||
| Note: This isoform with a 7 AA insert in the head domain is predominantly expressed in rapidly contracting phasic muscles. | ||||||
| Isoform 4 (identifier: P35749-4) The sequence of this isoform differs from the canonical sequence as follows: 1930-1972: RGNETSFVPSRRSGGRRVIENADGSEEETDTRDADFNGTKASE → GPPPQETSQ | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1972 | 1972 | Myosin-11 | PRO_0000123424 | |||||
Regions | |||||||||
| Domain | 1 – 785 | 785 | Myosin head-like | ||||||
| Domain | 786 – 815 | 30 | IQ | ||||||
| Nucleotide binding | 178 – 185 | 8 | ATP Potential | ||||||
| Region | 661 – 683 | 23 | Actin-binding By similarity | ||||||
| Region | 762 – 776 | 15 | Actin-binding By similarity | ||||||
| Region | 1935 – 1972 | 38 | C-terminal | ||||||
| Coiled coil | 844 – 1934 | 1091 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 129 | 1 | N6,N6,N6-trimethyllysine Potential | ||||||
| Modified residue | 1954 | 1 | Phosphoserine Ref.12 | ||||||
Natural variations | |||||||||
| Alternative sequence | 211 | 1 | T → TQGPSFAY in isoform 2 and isoform 3. | VSP_043017 | |||||
| Alternative sequence | 1930 – 1972 | 43 | RGNET…TKASE → GPPPQETSQ in isoform 3 and isoform 4. | VSP_043018 | |||||
| Natural variant | 1104 | 1 | A → T. Corresponds to variant rs34263860 [ dbSNP | Ensembl ]. | VAR_050205 | |||||
| Natural variant | 1234 | 1 | A → T. Corresponds to variant rs16967494 [ dbSNP | Ensembl ]. | VAR_030239 | |||||
| Natural variant | 1241 – 1264 | 24 | Missing in AAT4. | VAR_031734 | |||||
| Natural variant | 1289 | 1 | V → A. Corresponds to variant rs16967510 [ dbSNP | Ensembl ]. | VAR_030240 | |||||
| Natural variant | 1310 | 1 | V → M. Corresponds to variant rs7196804 [ dbSNP | Ensembl ]. | VAR_030241 | |||||
| Natural variant | 1508 | 1 | M → V. Corresponds to variant rs35176378 [ dbSNP | Ensembl ]. | VAR_050206 | |||||
| Natural variant | 1758 | 1 | R → Q in AAT4. Ref.13 | VAR_031735 | |||||
Experimental info | |||||||||
| Sequence conflict | 887 – 889 | 3 | EEK → NSE in D10667. Ref.9 | ||||||
| Sequence conflict | 1558 | 1 | T → S in D10667. Ref.9 | ||||||
| Sequence conflict | 1610 – 1611 | 2 | KQ → NE in D10667. Ref.9 | ||||||
| Sequence conflict | 1786 | 1 | A → S in CAA49154. Ref.10 | ||||||
| Sequence conflict | 1958 | 1 | T → L in D10667. Ref.9 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "(+)Insert smooth muscle myosin heavy chain (SM-B) isoform expression in human tissues." Leguillette R., Gil F.R., Zitouni N., Lajoie-Kadoch S., Sobieszek A., Lauzon A.M. Am. J. Physiol. 289:C1277-C1285(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3), TISSUE SPECIFICITY. |
| [2] | "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q." Loftus B.J., Kim U.-J., Sneddon V.P., Kalush F., Brandon R., Fuhrmann J., Mason T., Crosby M.L., Barnstead M., Cronin L., Mays A.D., Cao Y., Xu R.X., Kang H.-L., Mitchell S., Eichler E.E., Harris P.C., Venter J.C., Adams M.D. Genomics 60:295-308(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [4] | Nagase T., Kikuno R., Yamakawa H., Ohara O. Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION. |
| [5] | NHLBI resequencing and genotyping service (RS&G) Submitted (SEP-2009) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [6] | "The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. Pennacchio L.A.Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4). Tissue: Colon. |
| [9] | "Human smooth muscle myosin heavy chain gene mapped to chromosomal region 16q12." Matsuoka R., Yoshida M.C., Furutani Y., Imamura S., Kanda N., Yanagisawa M., Masaki T., Takao A. Am. J. Med. Genet. 46:61-67(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 885-1972 (ISOFORM 1/2). |
| [10] | Okajima K. Submitted (NOV-1992) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1093-1972 (ISOFORM 1/2). Tissue: Hippocampus. |
| [11] | "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes." Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H., Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R., Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E., Hunt D.F. J. Proteome Res. 5:3135-3144(2006) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. Tissue: Melanoma. |
| [12] | "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography." Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J. Proteomics 8:1346-1361(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1954, MASS SPECTROMETRY. Tissue: Liver. |
| [13] | "Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus." Zhu L., Vranckx R., Khau Van Kien P., Lalande A., Boisset N., Mathieu F., Wegman M., Glancy L., Gasc J.-M., Brunotte F., Bruneval P., Wolf J.-E., Michel J.-B., Jeunemaitre X. Nat. Genet. 38:343-349(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS AAT4 1241-ARG--LEU-1264 DEL AND GLN-1758. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY520816 mRNA. Translation: AAS98910.1. AY520817 mRNA. Translation: AAS98911.1. AF001548 Genomic DNA. Translation: AAC31665.1. U91323 Genomic DNA. Translation: AAC35212.1. AB020673 mRNA. Translation: BAA74889.2. Different initiation. GU143400 Genomic DNA. Translation: ACZ58374.1. AC024120 Genomic DNA. No translation available. AC026401 Genomic DNA. No translation available. AC130651 Genomic DNA. No translation available. BC101677 mRNA. Translation: AAI01678.1. BC104906 mRNA. Translation: AAI04907.1. CH471226 Genomic DNA. Translation: EAW53926.1. BC143364 mRNA. Translation: AAI43365.1. D10667 mRNA. No translation available. X69292 mRNA. Translation: CAA49154.1. |
| IPI | IPI00020501. IPI00024870. IPI00743857. IPI00744256. |
| RefSeq | NP_001035202.1. NM_001040113.1. NP_001035203.1. NM_001040114.1. NP_002465.1. NM_002474.2. NP_074035.1. NM_022844.2. |
| UniGene | Hs.460109. |
3D structure databases | |
| ProteinModelPortal | P35749. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-47268N. |
| IntAct | P35749. 7 interactions. |
| STRING | 9606.ENSP00000379616. |
PTM databases | |
| PhosphoSite | P35749. |
Polymorphism databases | |
| DMDM | 13432177. |
Proteomic databases | |
| PaxDb | P35749. |
| PRIDE | P35749. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000300036; ENSP00000300036; ENSG00000133392. ENST00000338282; ENSP00000345136; ENSG00000133392. ENST00000396324; ENSP00000379616; ENSG00000133392. ENST00000452625; ENSP00000407821; ENSG00000133392. ENST00000576790; ENSP00000458731; ENSG00000133392. |
| GeneID | 4629. |
| KEGG | hsa:4629. |
| UCSC | uc002ddy.3. human. |
Organism-specific databases | |
| CTD | 4629. |
| GeneCards | GC16M015704. |
| HGNC | HGNC:7569. MYH11. |
| HPA | CAB002302. HPA014539. HPA015310. |
| MIM | 132900. phenotype. 160745. gene. |
| neXtProt | NX_P35749. |
| Orphanet | 98829. Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22). 229. Familial aortic dissection. 91387. Familial thoracic aortic aneurysm. |
| PharmGKB | PA31367. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5022. |
| HOGENOM | HOG000173958. |
| HOVERGEN | HBG004704. |
| KO | K10352. |
| OrthoDB | EOG4TXBR1. |
| PhylomeDB | P35749. |
Enzyme and pathway databases | |
| Reactome | REACT_111045. Developmental Biology. REACT_17044. Muscle contraction. |
Gene expression databases | |
| ArrayExpress | P35749. |
| Bgee | P35749. |
| CleanEx | HS_MYH11. |
| Genevestigator | P35749. |
| GermOnline | ENSG00000133392. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000048. IQ_motif_EF-hand-BS. IPR001609. Myosin_head_motor_dom. IPR004009. Myosin_N. IPR002928. Myosin_tail. [Graphical view] |
| Pfam | PF00063. Myosin_head. 1 hit. PF02736. Myosin_N. 1 hit. PF01576. Myosin_tail_1. 1 hit. [Graphical view] |
| PRINTS | PR00193. MYOSINHEAVY. |
| SMART | SM00015. IQ. 1 hit. SM00242. MYSc. 1 hit. [Graphical view] |
| PROSITE | PS50096. IQ. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | MYH11. human. |
| GenomeRNAi | 4629. |
| NextBio | 17818. |
| SOURCE | Search... |
Entry information
| Entry name | MYH11_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P35749 Secondary accession number(s): O00396 Q3MNF1 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 16 Human chromosome 16: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
