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 have ATP binding activity; actin filament binding activity; and motor activity. Involved in somite specification. Predicted to localize to myosin complex. Human ortholog(s) of this gene implicated in disease of cellular proliferation; distal arthrogryposis type 2A; distal arthrogryposis type 2B1; distal arthrogryposis type 2B3; and distal arthrogryposis type 7. Is expressed in several structures, including adaxial cell; brain; eye; musculature system; and somite. Orthologous to several human genes including MYH1 (myosin heavy chain 1) and MYH8 (myosin heavy chain 8).
- 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 | 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 | Length | DNA repair protein XRCC4-like, C-terminal | Kinesin motor domain superfamily | Myosin, N-terminal, SH3-like | Myosin S1 fragment, N-terminal | Myosin tail | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|
|
UniProtKB:B8A568
|
1937 |
| 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