ジストニン

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].

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

Wikidata facts

Instance of

gene

Image

Protein DST PDB 2iak.png

via Wikidata · CC0