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Tbio
COL6A1
Collagen alpha-1(VI) chain

Protein Classes
Protein Summary
Description
Collagen VI acts as a cell-binding protein. The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000361866
  • ENSP00000355180
  • ENSG00000142156

Symbol
  • OPLL
  • BTHLM1
  • UCHMD1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor perturbation
0.96
disease perturbation
0.9
small molecule perturbation
0.9
kinase perturbation
0.84
gene perturbation
0.73


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
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: 175.66   (req: < 5)
Gene RIFs: 52   (req: <= 3)
Antibodies: 327   (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: 175.66   (req: >= 5)
Gene RIFs: 52   (req: > 3)
Antibodies: 327   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 9
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 (13)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
corneal hysteresis
1
1
1
87.2
intraocular pressure measurement
2
2
2
72.4
refractive error measurement
2
2
1
7.7
63.6
Myopia
2
2
0
4.4
63.1
corneal resistance factor
2
2
2
63
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
corneal hysteresis
1
87.2
intraocular pressure measurement
2
72.4
refractive error measurement
1
7.7
63.6
Myopia
0
4.4
63.1
corneal resistance factor
2
63
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Mouse
MGI:88459
12833
Rat
RGD:1565398
294337
Dog
collagen type VI alpha 1 chain
VGNC:39480
403668
Horse
collagen type VI alpha 1 chain
VGNC:16746
100050035
Cow
collagen type VI alpha 1 chain
VGNC:27570
511422
Species
Name
OMA
EggNOG
Inparanoid
Mouse
Rat
Dog
collagen type VI alpha 1 chain
Horse
collagen type VI alpha 1 chain
Cow
collagen type VI alpha 1 chain
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-P12109-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (40)
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 12
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Assembly of collagen fibrils and other multimeric structures
Reactome
Axon guidance
Reactome
Collagen biosynthesis and modifying enzymes
Reactome
Collagen chain trimerization
Reactome
Collagen formation
Name
Explore in Pharos
Explore in Source
Assembly of collagen fibrils and other multimeric structures
Axon guidance
Collagen biosynthesis and modifying enzymes
Collagen chain trimerization
Collagen formation
Protein-Protein Interactions (188)
1 – 10 of 188
MMP9
Tchem
Family:  Enzyme
Novelty:  0.00008645
p_int:  0.999005905
p_ni:  0.000994095
Score:  0.419
Data Source:  BioPlex,STRINGDB
PLA2G10
Tchem
Family:  Enzyme
Novelty:  0.00289317
p_int:  0.98896116
p_ni:  0.01103884
Data Source:  BioPlex
MMP2
Tchem
Family:  Enzyme
Novelty:  0.00012762
p_int:  0.987655458
p_ni:  0.012344542
Score:  0.864
Data Source:  BioPlex,STRINGDB
PLOD1
Tbio
Family:  Enzyme
Novelty:  0.00905345
p_int:  0.98475928
p_ni:  0.01524072
Score:  0.925
Data Source:  BioPlex,STRINGDB
RTBDN
Tdark
Novelty:  0.13274492
p_int:  0.952019363
p_ni:  0.047980637
Score:  0.201
Data Source:  BioPlex,STRINGDB
C1QTNF9
Tbio
Novelty:  0.03485116
p_int:  0.929528372
p_ni:  0.070471628
Data Source:  BioPlex
PTPRK
Tbio
Family:  Enzyme
Novelty:  0.03149943
p_int:  0.918862209
p_ni:  0.081137791
Score:  0.169
Data Source:  BioPlex,STRINGDB
SCGB2A1
Tbio
Novelty:  0.01902973
p_int:  0.913289439
p_ni:  0.086710561
Data Source:  BioPlex
LYZL1
Tbio
Family:  Enzyme
Novelty:  0.10945096
p_int:  0.908555431
p_ni:  0.091444569
Data Source:  BioPlex
COLEC11
Tbio
Novelty:  0.02989413
p_int:  0.908239182
p_ni:  0.091760818
Score:  0.186
Data Source:  BioPlex,STRINGDB
Publication Statistics
PubMed Score  175.66

PubMed score by year
PubTator Score  89

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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