DST

Also known as BPA, BPAG1, CATX-15, CATX15, D6S1101, DMH, DT, EBSB2

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.

Gene data

DST

Name: dystonin
Type: protein-coding
Aliases: BP240, BPA, BPAG1, CATX-15, CATX15, CMYO29, D6S1101, DMH, DT, EBS3

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].

via MyGene.info

Gene · Ensembl

dystonin

Symbol: DST
Biotype: Protein coding
Organism: Homo sapiens
Location: 6:56,457,981-56,955,274
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Image: Protein DST PDB 2iak.png

Show 5 more facts

HomoloGene ID: 134369
exact match: identifiers.org/ncbigene/667
genomic end: 56954830
genomic start: 56322785
cytogenetic location: 6p12.1

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Interactions
Loss of function in neurological disease
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Further reading

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.