ZFIN is now using GRCz12tu for Genomic Data
Gene
dst
- ID
- ZDB-GENE-030131-3399
- Name
- dystonin
- Symbol
- dst Nomenclature History
- Previous Names
-
- bpag1 (1)
- wu:fc38a05
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable calcium ion binding activity and microtubule binding activity. Predicted to act upstream of or within intermediate filament cytoskeleton organization. Predicted to be located in cytoskeleton. Is expressed in epidermis. Human ortholog(s) of this gene implicated in epidermolysis bullosa simplex and hereditary sensory and autonomic neuropathy type 6. Orthologous to human DST (dystonin).
- Genome Resources
-
- Alliance (1)
- Gene:100333215 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Li et al., 2011
- 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 |
|---|---|---|---|
| epidermolysis bullosa simplex | Alliance | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency | 615425 |
| hereditary sensory and autonomic neuropathy type 6 | Alliance | Neuropathy, hereditary sensory and autonomic, type VI | 614653 |
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 | IPR001452 | SH3 domain |
| Domain | IPR001715 | Calponin homology domain |
| Domain | IPR002048 | EF-hand domain |
| Domain | IPR003108 | GAR domain |
| Domain | IPR041573 | Desmoplakin, spectrin-like domain |
| Domain | IPR041615 | Desmoplakin, SH3 domain |
| Family | IPR043197 | Plakin |
| Homologous_superfamily | IPR011992 | EF-hand domain pair |
| Homologous_superfamily | IPR035915 | Plakin repeat superfamily |
| Homologous_superfamily | IPR036534 | GAR domain superfamily |
| Homologous_superfamily | IPR036872 | CH domain superfamily |
| Repeat | IPR001101 | Plectin repeat |
| Repeat | IPR002017 | Spectrin repeat |
| Repeat | IPR018159 | Spectrin/alpha-actinin |
| Repeat | IPR049538 | Plectin-like, spectrin-like repeat |
Domain Details Per Protein
| Protein | Additional Resources | Length | Actinin-type actin-binding domain, conserved site | Calponin homology domain | CH domain superfamily | Desmoplakin, SH3 domain | Desmoplakin, spectrin-like domain | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair | GAR domain | GAR domain superfamily | Plakin | Plakin repeat superfamily | Plectin-like, spectrin-like repeat | Plectin repeat | SH3 domain | Spectrin/alpha-actinin | Spectrin repeat |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0AB32T7G8 | InterPro | 8163 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers
- Comparative Orthology
- Alliance