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 junction; 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
Note
None
Comparative Information
Expression
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
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With dst Human Ortholog
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
Associated With dst Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations
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