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.

In the Vinony graph

Within Vinony's link graph, DST is referenced by 285 other articles, and connects out to hair keratin, PubMed and Ensembl genome database project.

Vinony files it under EF-hand-containing proteins, Genes on human chromosome 6 and Plakins.

Its subject is documented across 5 Wikipedia language editions.

Gene data

DST

Name: dystonin
Type: protein-coding
Position: 56,457,981–56,955,274 (−)
Aliases: BP240, BPA, BPAG1, CATX-15, CATX15, CMYO29, D6S1101, DMH, DT, EBS3
Ensembl: ENSG00000151914
RefSeq RNA: NM_001144769.5, NM_001144770.2, NM_001144771.1, NM_001374722.1, NM_001374729.1
RefSeq protein: NP_001138241.1, NP_001138242.1, NP_001361651.1, NP_001361658.1, NP_001361659.1

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].

Pathways

Extracellular matrix organization Collagen formation Cell-Cell communication Signal Transduction Signaling by Rho GTPases Assembly of collagen fibrils and other multimeric structures Type I hemidesmosome assembly Cell junction organization RHO GTPase cycle RHOU GTPase cycle

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

Instance of: gene
Image: Protein DST PDB 2iak.png

Show 7 more facts

HomoloGene ID: 134369
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/667
genomic end: 56954830
genomic start: 56322785
chromosome: human chromosome 6
cytogenetic location: 6p12.1

Sources (3)

via Wikidata · CC0

~2 min read

Encyclopedic overview

5 sections

Contents

Interactions
Loss of function in neurological disease
See also
References
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.

Excerpted from Wikipedia’s “DST” article, available under the CC BY-SA 4.0 licence.