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
- Description
- Predicted to enable actin binding activity; calcium ion binding activity; and microtubule binding activity. Predicted to act upstream of or within intermediate filament cytoskeleton organization. Predicted to be located in several cellular components, including cell projection; microtubule; and plasma membrane. 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 |
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Domain, Family, and Site Summary
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 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_068213134 (1) | 25332 nt | ||
| Genomic | GenBank:BX004843 (1) | 131026 nt | ||
| Polypeptide | UniProtKB:A0AB32T7G8 (1) | 8163 aa |
- Comparative Orthology
- Alliance
- Healy, T.M., Schulte, P.M. (2019) Patterns of alternative splicing in response to cold acclimation in fish. The Journal of experimental biology. 222(Pt 5):
- Li, Q., Frank, M., Thisse, C.I., Thisse, B.V., and Uitto, J. (2011) Zebrafish: A Model System to Study Heritable Skin Diseases. The Journal of investigative dermatology. 131(3):565-571
- Wu, Y.L., and Gong, Z. (2004) A novel zebrafish kelchlike gene klhl and its human ortholog KLHL display conserved expression patterns in skeletal and cardiac muscles. Gene. 338(1):75-83
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