Tbio COL6A3 Collagen alpha-3(VI) chain

Protein Classes

PANTHER Classes

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

DTO Classes

Protein / Receptor / 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

Related Tools

Target Illumination GWAS Analytics (TIGA)

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GENEVA

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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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: 118.88   (req: < 5)

Gene RIFs: 33   (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: 118.88   (req: >= 5)

Gene RIFs: 33   (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

GWAS Traits (4)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
coronary artery disease	EFO_0001645	1	1	0	25	84
myocardial infarction	EFO_0000612	1	1	0	50	70.5
Ischemic stroke	HP_0002140	1	1	0	12.5	30.8
intraocular pressure measurement	EFO_0004695	1	1	1		29.8

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
coronary artery disease	EFO_0001645	0	25	84
myocardial infarction	EFO_0000612	0	50	70.5
Ischemic stroke	HP_0002140	0	12.5	30.8
intraocular pressure measurement	EFO_0004695	1		29.8

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Orthologs (13)

1 – 5 of 13

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	collagen type VI alpha 3 chain	VGNC:10726	460045
Macaque	collagen type VI alpha 3 chain		694701
Mouse	collagen, type VI, alpha 3	MGI:88461	12835
Dog	collagen type VI alpha 3 chain	VGNC:39481	403582
Horse	collagen type VI alpha 3 chain	VGNC:16748	100066356

Species	Name	OMA	EggNOG	Inparanoid
Chimp	collagen type VI alpha 3 chain
Macaque	collagen type VI alpha 3 chain
Mouse	collagen, type VI, alpha 3
Dog	collagen type VI alpha 3 chain
Horse	collagen type VI alpha 3 chain

Protein Data Bank (4)

1 – 4 of 4

PDB Structure Id	Ligand	Method	Resolution (Å)	M.W. (kDa)	Pub Year	Title

PDB Structure Id	M.W.	Resolution	Pub Year

Pathways (27)

Reactome (12)

KEGG (5)

PathwayCommons (5)

WikiPathways (5)

Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Assembly of collagen fibrils and other multimeric structures	57 targets	R-HSA-2022090
Reactome	Axon guidance	533 targets	R-HSA-422475
Reactome	Collagen biosynthesis and modifying enzymes	67 targets	R-HSA-1650814
Reactome	Collagen chain trimerization	44 targets	R-HSA-8948216
Reactome	Collagen formation	90 targets	R-HSA-1474290

Name	Explore in Pharos	Explore in Source
Assembly of collagen fibrils and other multimeric structures	57 targets	R-HSA-2022090
Axon guidance	533 targets	R-HSA-422475
Collagen biosynthesis and modifying enzymes	67 targets	R-HSA-1650814
Collagen chain trimerization	44 targets	R-HSA-8948216
Collagen formation	90 targets	R-HSA-1474290

Gene Ontology Terms (15)

Functions (2)

Components (9)

Processes (4)

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1 – 2 of 2

GO Term	Evidence	Assigned by
extracellular matrix structural constituent conferring tensile strength	Inferred from High Throughput Direct Assay (HDA)	BHF-UCL
serine-type endopeptidase inhibitor activity	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Protein-Protein Interactions (152)

Explore Interacting Targets

1 – 10 of 152

• See Interactions on String-DB

COL6A1

Tbio

Novelty: 0.00644855

Score: 0.99

Data Source: STRINGDB

COL6A2

Tbio

Novelty: 0.01275082

Score: 0.989

Data Source: STRINGDB

COL1A2

Tbio

Novelty: 0.00048334

Score: 0.988

Data Source: STRINGDB

COL3A1

Tbio

Novelty: 0.00197327

Score: 0.985

Data Source: STRINGDB

COL1A1

Tbio

Novelty: 0.00063584

Score: 0.982

Data Source: STRINGDB

COL5A1

Tbio

Novelty: 0.00506815

Score: 0.974

Data Source: STRINGDB

COL5A2

Tbio

Novelty: 0.01352973

Score: 0.971

Data Source: STRINGDB

ITGB1

Tclin

Novelty: 0.00055626

Score: 0.952

Data Source: STRINGDB

COL8A1

Tbio

Novelty: 0.02203574

Score: 0.949

Data Source: STRINGDB

COL15A1

Tbio

Novelty: 0.04078006

Score: 0.943

Data Source: STRINGDB

Publication Statistics

PubMed Score  118.88

PubMed score by year

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PubTator Score  64.6

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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UniProt Keyword Find Similar Targets

3D-structure
Alternative splicing
Cell adhesion
Collagen
Complete proteome
Congenital muscular dystrophy
Direct protein sequencing
Disease mutation
Disulfide bond
Dystonia

GWAS Trait Find Similar Targets

coronary artery disease
intraocular pressure measurement
Ischemic stroke
myocardial infarction

MGI Phenotype Find Similar Targets

cellular phenotype
growth/size/body region phenotype
muscle phenotype
skeleton phenotype