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 have actin filament binding activity and calcium ion binding activity. Predicted to be involved in actin crosslink formation and actin filament bundle assembly. Human ortholog(s) of this gene implicated in platelet-type bleeding disorder 15. Is expressed in several structures, including head muscle; intestine; nervous system; ovary; and ventral intermandibularis anterior. 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