dystonin

Symbol

DST (may also be known as: None)

Organism

Human

Description

This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010]

Orthologs

SymbolSpecies
vab-10 Caenorhabditis elegans
macf1 Danio rerio
Dst Mus musculus
Dst Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA3013 Gene expression of DST increases with age Molecular skin Human DST —

GO Terms

GO IDGO TermGO Category
GO:0000226 microtubule cytoskeleton organization biological_process
GO:0007010 cytoskeleton organization biological_process
GO:0007050 cell cycle arrest biological_process
GO:0007155 cell adhesion biological_process
GO:0007229 integrin-mediated signaling pathway biological_process
GO:0007409 axonogenesis biological_process
GO:0008090 retrograde axon cargo transport biological_process
GO:0009611 response to wounding biological_process
GO:0030011 maintenance of cell polarity biological_process
GO:0031110 regulation of microtubule polymerization or depolymerization biological_process
GO:0031122 cytoplasmic microtubule organization biological_process
GO:0031581 hemidesmosome assembly biological_process
GO:0045104 intermediate filament cytoskeleton organization biological_process
GO:0046907 intracellular transport biological_process
GO:0048870 cell motility biological_process
GO:0055085 transmembrane transport biological_process
GO:0001725 stress fiber cellular_component
GO:0005604 basement membrane cellular_component
GO:0005634 nucleus cellular_component
GO:0005635 nuclear envelope cellular_component
GO:0005737 cytoplasm cellular_component
GO:0005783 endoplasmic reticulum cellular_component
GO:0005789 endoplasmic reticulum membrane cellular_component
GO:0005856 cytoskeleton cellular_component
GO:0005882 intermediate filament cellular_component
GO:0005925 focal adhesion cellular_component
GO:0005938 cell cortex cellular_component
GO:0009898 internal side of plasma membrane cellular_component
GO:0009925 basal plasma membrane cellular_component
GO:0014704 intercalated disc cellular_component
GO:0015629 actin cytoskeleton cellular_component
GO:0015630 microtubule cytoskeleton cellular_component
GO:0016021 integral to membrane cellular_component
GO:0016023 cytoplasmic membrane-bounded vesicle cellular_component
GO:0030018 Z disc cellular_component
GO:0030054 cell junction cellular_component
GO:0030056 hemidesmosome cellular_component
GO:0030424 axon cellular_component
GO:0031252 cell leading edge cellular_component
GO:0031673 H zone cellular_component
GO:0033267 axon part cellular_component
GO:0035371 microtubule plus end cellular_component
GO:0042383 sarcolemma cellular_component
GO:0042995 cell projection cellular_component
GO:0045111 intermediate filament cytoskeleton cellular_component
GO:0060053 neurofilament cytoskeleton cellular_component
GO:0097038 perinuclear endoplasmic reticulum cellular_component
GO:0003779 actin binding molecular_function
GO:0005178 integrin binding molecular_function
GO:0005509 calcium ion binding molecular_function
GO:0005515 protein binding molecular_function
GO:0005524 ATP binding molecular_function
GO:0008022 protein C-terminus binding molecular_function
GO:0042626 ATPase activity, coupled to transmembrane movement of substances molecular_function
GO:0042803 protein homodimerization activity molecular_function
GO:0051010 microtubule plus-end binding molecular_function