Gene
myhz1.1
- ID
- ZDB-GENE-000322-5
- Name
- myosin, heavy polypeptide 1.1, skeletal muscle
- Symbol
- myhz1.1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable actin filament binding activity and microfilament motor activity. Acts upstream of or within somite specification. Predicted to be part of myosin II complex. Predicted to be active in cytoplasm and myosin filament. Is expressed in several structures, including adaxial cell; brain; eye; musculature system; and somite. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita; congenital myopathy 6; disease of cellular proliferation; distal arthrogryposis type 7; and inclusion body myositis. Orthologous to several human genes including MYH1 (myosin heavy chain 1); MYH2 (myosin heavy chain 2); and MYH4 (myosin heavy chain 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 39 figures from 16 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb20 (5 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital myopathy 6 | Alliance | Congenital myopathy 6 with ophthalmoplegia | 605637 |
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:B8A568 | InterPro | 1937 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
myhz1.1-201
(1)
|
Ensembl | 6,006 nt | ||
| mRNA |
myhz1.1-202
(1)
|
Ensembl | 5,903 nt |
Interactions and Pathways
No data available
Plasmids
No data available