Recombinant human Dystonin

Uniprot Id

Q03001

Target Species

Human

Target Name

DST

Target Full Name

Dystonin

Target Function

Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1.; plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity.; required for bundling actin filaments around the nucleus.; regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport.

Target Involvement

Neuropathy, hereditary sensory and autonomic, 6 (HSAN6); Epidermolysis bullosa simplex, autosomal recessive 2 (EBSB2)

Target Subcellular Location

Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, stress fiber. Cell projection, axon.; [Isoform 1]: Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Cytoplasm, myofibril, sarcomere, H zone.; [Isoform 2]: Cytoplasm, cytoskeleton.; [Isoform 3]: Cytoplasm, cytoskeleton. Cell junction, hemidesmosome.; [Isoform 6]: Nucleus. Nucleus envelope. Membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, stress fiber.; [Isoform 7]: Cytoplasm, cytoskeleton. Cell projection, axon. Membrane. Note=Associates with axonal microtubules and intermediate filaments, but not with actin cytoskeleton, in sensory neurons.; [Isoform 8]: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Cell membrane; Lipid-anchor.

Target Tissue Specificity

Isoform 1 is expressed in myoblasts (at protein level). Isoform 3 is expressed in the skin. Isoform 6 is expressed in the brain. Highly expressed in skeletal muscle and cultured keratinocytes.

Target Research Area

Signal Transduction

Target Synonyms

DST; BP230; BP240; BPAG1; DMH; DT; KIAA0728Dystonin; 230 kDa bullous pemphigoid antigen; 230/240 kDa bullous pemphigoid antigen; Bullous pemphigoid antigen 1; BPA; Bullous pemphigoid antigen; Dystonia musculorum protein; Hemidesmosomal plaque protein

Target Background

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.