Tbio COL6A3 Collagen alpha-3(VI) chain

Protein Summary

Description

Collagen VI acts as a cell-binding protein. This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]

Uniprot Accession IDs

• P12111
• A8MT30
• B4E3U5
• B7ZMJ7
• E9PFQ6
• E9PGQ9
• Q16501
• Q53QF4
• Q53QF6

Gene Name

• COL6A3

Ensembl ID

• ENST00000295550
• ENSP00000295550
• ENSG00000163359
• ENST00000353578
• ENSP00000315873
• ENST00000392003
• ENSP00000375860
• ENST00000392004
• ENSP00000375861
• ENST00000409809
• ENSP00000386844
• ENST00000472056
• ENSP00000418285

Symbol

• DYT27
• UCMD1
• BTHLM1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
gene perturbation	0.96
protein domain	0.85
disease perturbation	0.83
disease	0.71
PubMedID	0.61

Protein Classes

PANTHER Classes

Protein / Receptor / Collagen Alpha-3(vi) Chain

DTO Classes

Protein / Receptor / Collagen Alpha-3(vi) Chain

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: 145.13   (req: < 5)

Gene RIFs: 49   (req: <= 3)

Antibodies: 59   (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: 145.13   (req: >= 5)

Gene RIFs: 49   (req: > 3)

Antibodies: 59   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

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