Gene
myh11a
- ID
- ZDB-GENE-050531-1
- Name
- myosin, heavy chain 11a, smooth muscle
- Symbol
- myh11a Nomenclature History
- Previous Names
-
- myh11
- meltdown
- mlt
- smmhc (1)
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable actin filament binding activity and microfilament motor activity. Acts upstream of or within several processes, including digestive tract morphogenesis; heart contraction; and regulation of polarized epithelial cell differentiation. Predicted to be part of myosin II complex. Predicted to be active in cytoplasm and myosin filament. Is expressed in gut and muscle. Used to study megacystis-microcolon-intestinal hypoperistalsis syndrome. Human ortholog(s) of this gene implicated in megacystis-microcolon-intestinal hypoperistalsis syndrome; patent ductus arteriosus; and thoracic aortic aneurysm. Orthologous to human MYH11 (myosin heavy chain 11).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 17 figures from 10 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 19 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
thoracic aortic aneurysm | Alliance | Aortic aneurysm, familial thoracic 4 | 132900 |
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 619351 | ||
Visceral myopathy 2 | 619350 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR002928 | Myosin tail |
Domain | IPR004009 | Myosin, N-terminal, SH3-like |
Homologous_superfamily | IPR008989 | Myosin S1 fragment, N-terminal |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Homologous_superfamily | IPR036961 | Kinesin motor domain superfamily |
Domain Details Per Protein
Protein | Length | Kinesin motor domain superfamily | Myosin, N-terminal, SH3-like | Myosin S1 fragment, N-terminal | Myosin tail | P-loop containing nucleoside triphosphate hydrolase |
---|---|---|---|---|---|---|
UniProtKB:Q4U0S2
|
1974 | |||||
UniProtKB:A0A8M9QAD3
|
1943 | |||||
UniProtKB:A0A8M9QFE6
|
1983 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
myh11a-201
(1)
|
Ensembl | 7,086 nt | ||
mRNA |
myh11a-202
(1)
|
Ensembl | 531 nt |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-myh11 | polyclonal | IgG | Rabbit |
|
Biomedical Technologies, Inc.
|
10 |
Plasmids
No data available