Gene
actn1
- ID
- ZDB-GENE-081113-4
- Name
- actinin, alpha 1
- Symbol
- actn1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable actin filament binding activity. Predicted to be involved in actin cytoskeleton organization and muscle cell development. Predicted to be active in several cellular components, including Z disc; actin cytoskeleton; and cell junction. Is expressed in several structures, including head muscle; intestine; nervous system; ovary; and ventral intermandibularis anterior. Human ortholog(s) of this gene implicated in platelet-type bleeding disorder 15. Orthologous to human ACTN1 (actinin alpha 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| platelet-type bleeding disorder 15 | Alliance | Bleeding disorder, platelet-type, 15 | 615193 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR018247 | EF-Hand 1, calcium-binding site |
| Conserved_site | IPR001589 | Actinin-type actin-binding domain, conserved site |
| Domain | IPR001715 | Calponin homology domain |
| Domain | IPR002048 | EF-hand domain |
| Domain | IPR014837 | EF-hand, Ca insensitive |
| Homologous_superfamily | IPR011992 | EF-hand domain pair |
| Homologous_superfamily | IPR036872 | CH domain superfamily |
| Repeat | IPR002017 | Spectrin repeat |
| Repeat | IPR018159 | Spectrin/alpha-actinin |
Domain Details Per Protein
| Protein | Length | Actinin-type actin-binding domain, conserved site | Calponin homology domain | CH domain superfamily | EF-Hand 1, calcium-binding site | EF-hand, Ca insensitive | EF-hand domain | EF-hand domain pair | Spectrin/alpha-actinin | Spectrin repeat |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3AZC5
|
897 | |||||||||
|
UniProtKB:A0A8M9QJP5
|
654 | |||||||||
|
UniProtKB:A0A8M2B3U1
|
924 | |||||||||
|
UniProtKB:A0A8M3B5E5
|
897 | |||||||||
|
UniProtKB:A0A8M3B867
|
902 | |||||||||
|
UniProtKB:B8JHU4
|
902 |
Interactions and Pathways
No data available
Plasmids
No data available