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)[1] Band 6p12.1 Start 56,457,987 bp[1] End 56,954,830 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 disc 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 Species Human Mouse Entrez 667 n/a Ensembl ENSG00000151914 n/a UniProt Q03001 n/a RefSeq (mRNA) 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 RefSeq (protein) NP_001138241 NP_001138242 NP_001714 NP_056363 NP_899236 NP_001361651 NP_001361658 NP_001361659 NP_001361663 NP_001361665 n/a Location (UCSC) Chr 6: 56.46 – 56.95 Mb n/a PubMed search [2] 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.^[3][4][5]

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.^[5]

Interactions

Dystonin has been shown to interact with collagen, type XVII, alpha 1,^[6][7] DCTN1,^[8] MAP1B^[9] and erbin.^[10]

Loss of function in neurological disease

Several Dst mutant mouse lines have been described which share the common feature of having sensory neuron degeneration.^[11][12][13] In humans, loss of dystonin function can cause hereditary sensory and autonomic neuropathy type VI^[14] and axonal Charcot-Marie-Tooth disease.^[15] In both human diseases, pathology is likely attributable to the loss of the dystonin-a2 protein isoform, which plays a role in neuronal autophagy.^[16]

See also

• Bullous pemphigoid

References

Further reading