Gene
smyhc1
- ID
- ZDB-GENE-030131-271
- Name
- slow myosin heavy chain 1
- Symbol
- smyhc1 Nomenclature History
- Previous Names
-
- smhc1 (1)
- fb18g10
- im:6897999
- wu:fb18g10
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable actin filament binding activity and microfilament motor activity. Acts upstream of or within several processes, including regulation of myofibril size; slow-twitch skeletal muscle fiber contraction; and striated muscle cell development. Predicted to be located in myofibril. Predicted to be part of myosin II complex. Predicted to be active in cytoplasm and myosin filament. Is expressed in cardiovascular system; musculature system; paraxial mesoderm; and somite. Used to study distal arthrogryposis and spondylocarpotarsal synostosis syndrome. Human ortholog(s) of this gene implicated in cardiomyopathy (multiple); congenital heart disease (multiple); distal myopathy 1; heart conduction disease (multiple); and hyaline body myopathy (multiple). Orthologous to human MYH6 (myosin heavy chain 6) and MYH7 (myosin heavy chain 7).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 110 figures from 52 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6897999 (37 images)
Wild Type Expression Summary
- All Phenotype Data
- 27 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR001609 | Myosin head, motor domain-like |
Domain | IPR002928 | Myosin tail |
Domain | IPR004009 | Myosin, N-terminal, SH3-like |
Homologous_superfamily | IPR008989 | Myosin S1 fragment, N-terminal |
Homologous_superfamily | IPR014751 | DNA repair protein XRCC4-like, C-terminal |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Homologous_superfamily | IPR036961 | Kinesin motor domain superfamily |
Domain Details Per Protein
Protein | Additional Resources | Length | DNA repair protein XRCC4-like, C-terminal | Kinesin motor domain superfamily | Myosin head, motor domain-like | Myosin, N-terminal, SH3-like | Myosin S1 fragment, N-terminal | Myosin tail | P-loop containing nucleoside triphosphate hydrolase |
---|---|---|---|---|---|---|---|---|---|
UniProtKB:Q508P8 | InterPro | 1938 | |||||||
UniProtKB:A0A0R4INI3 | InterPro | 1938 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
smyhc1-201
(1)
|
Ensembl | 6,575 nt | ||
mRNA |
smyhc1-202
(1)
|
Ensembl | 6,147 nt | ||
ncRNA |
cu633479.5-201
(1)
|
Ensembl | 762 nt |
Interactions and Pathways
No data available
Plasmids