Dystonin

DST
Available structures
PDB	Human UniProt search: PDBe RCSB
List of PDB id codes
	3GJO
Identifiers
Aliases	DST, BPA, BPAG1, CATX-15, CATX15, D6S1101, DMH, DT, EBSB2, HSAN6, MACF2, dystonin, BP230, BP240, EBS3
External IDs	OMIM: 113810; HomoloGene: 134369; GeneCards: DST; OMA:DST - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	56,954,830 bp
RNA expression pattern
	Top expressed in
	corpus callosum; ; Achilles tendon; ; internal globus pallidus; ; pars reticulata; ; inferior olivary nucleus; ; pars compacta; ; external globus pallidus; ; subthalamic nucleus; ; inferior ganglion of vagus nerve; ; body of uterus;
	n/a
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; protein homodimerization activity; microtubule plus-end binding; metal ion binding; integrin binding; protein C-terminus binding; protein binding; actin binding; microtubule binding; structural molecule activity; cytoskeletal protein binding;
Cellular component	cytoplasm; integral component of membrane; cell projection; nuclear envelope; endoplasmic reticulum membrane; membrane; focal adhesion; microtubule cytoskeleton; H zone; plasma membrane; hemidesmosome; microtubule plus-end; basement membrane; axon; cell junction; basal plasma membrane; cell cortex; Z discdkac; cell leading edge; endoplasmic reticulum; actin cytoskeleton; intermediate filament cytoskeleton; extracellular exosome; intermediate filament; cytoskeleton; microtubule; nucleus; cytosol; cytoplasmic vesicle; axon cytoplasm;
Biological process	hemidesmosome assembly; cell motility; cell adhesion; response to wounding; intermediate filament cytoskeleton organization; integrin-mediated signaling pathway; maintenance of cell polarity; microtubule cytoskeleton organization; retrograde axonal transport; cytoskeleton organization; cytoplasmic microtubule organization; wound healing;
	Sources:Amigo / QuickGO
Orthologs
	667
	n/a
	ENSG00000151914
	n/a
	Q03001
	n/a
NM_001144769; NM_001144770; NM_001144771; NM_001723; NM_015548;
	NM_020388; NM_183380; NM_001374722; NM_001374729; NM_001374730; NM_001374734; NM_001374736; NM_001386100
	n/a
NP_001138241; NP_001138242; NP_001714; NP_056363; NP_899236;
	NP_001361651; NP_001361658; NP_001361659; NP_001361663; NP_001361665
	n/a
	Wikidata
View/Edit Human

Dystonin (DST), also known as bullous pemphigoid antigen 1 (BPAG1), isoforms 1/2/3/4/5/8, is a protein that in humans is encoded by the DST gene.

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 known 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.