Tbio DST Dystonin

Protein Summary

Description

Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1 (By similarity). Isoform 3: plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity. Isoform 6: required for bundling actin filaments around the nucleus. Isoform 7: regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. 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]

Uniprot Accession IDs

• Q03001
• B7Z3H1
• E7ERU0
• O94833
• Q12825
• Q13266
• Q13267
• Q13775
• Q5TBT0
• Q5TBT2
• Q5TF23
• Q5TF24
• Q8N1T8
• Q8N8J3
• Q8WXK8
• Q8WXK9
• Q96AK9
• Q96DQ5
• Q96J76
• Q96QT5
• Q9H555
• Q9UGD7
• Q9UGD8
• Q9UN10

Gene Name

• DST

Ensembl ID

• ENST00000244364
• ENSP00000244364
• ENSG00000151914
• ENST00000370765
• ENSP00000359801
• ENST00000370788
• ENSP00000359824
• ENST00000439203
• ENSP00000404924

Symbol

• BP230
• BP240
• BPAG1
• DMH
• DT
• KIAA0728
• DT
• BPA
• DMH
• BP240
• BPAG1
• EBSB2
• HSAN6
• MACF2
• CATX15
• CATX-15
• D6S1101

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	1
PubMedID	0.99
transcription factor perturbation	0.99
interacting protein	0.95
cellular component	0.92

Protein Classes

PANTHER Classes

Protein / Cytoskeletal Protein / Intermediate Filament / Intermediate Filament Binding Protein / Dystonin

DTO Classes

Protein / Cellular Structure / Intermediate Filament / Intermediate Filament Binding Protein / Dystonin

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 560.71   (req: < 5)

Gene RIFs: 34   (req: <= 3)

Antibodies: 163   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 560.71   (req: >= 5)

Gene RIFs: 34   (req: > 3)

Antibodies: 163   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 20

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0