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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]
COL6A1 (Collagen Type VI Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL6A1 include Ullrich Congenital Muscular Dystrophy 1 and Bethlem Myopathy 1. Among its related pathways are Integrin Pathway and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include platelet-derived growth factor binding. An important paralog of this gene is COL5A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005518 | collagen binding | IPI | 18400749 |
GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA | 20551380 |
GO:0048407 | platelet-derived growth factor binding | IDA | 8900172 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | HDA,TAS | -- |
GO:0005581 | collagen trimer | IEA | -- |
GO:0005589 | collagen type VI trimer | NAS | 2551668 |
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0005765 | lysosomal membrane | HDA | 17897319 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Collagen chain trimerization |
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
|
|
2 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
4 | PI3K-Akt signaling pathway | ||
5 | Phospholipase-C Pathway |
Phospholipase-C Pathway
.56
|
PTEN Pathway
.56
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001649 | osteoblast differentiation | HDA | 16210410 |
GO:0003429 | growth plate cartilage chondrocyte morphogenesis | IBA | -- |
GO:0007155 | cell adhesion | IEA | -- |
GO:0030198 | extracellular matrix organization | TAS | -- |
GO:0035987 | endodermal cell differentiation | IEP | 23154389 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COL6A1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | COL6A1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | COL6A1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Col6a1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Col6a1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | COL6A1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | COL6A1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | COL6A1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | COL6A1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | col6a1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | col6a1-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | col6a1 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | mec-5 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
17175 | Pathogenic: Ullrich congenital muscular dystrophy 1, autosomal dominant | 45,988,512(+) | GCCGTGCAGGGTGTGG | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
476408 | Uncertain Significance: Bethlem myopathy 1 | 45,991,017(+) | TG/CA | MISSENSE_VARIANT | |
639559 | Pathogenic: Bethlem myopathy 1 | 45,989,627(+) | G/A | MISSENSE_VARIANT | |
640152 | Uncertain Significance: Bethlem myopathy 1 | 45,984,416(+) | G/C | MISSENSE_VARIANT | |
641573 | Uncertain Significance: Bethlem myopathy 1 | 45,998,904(+) | A/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2416n106 | CNV | deletion | 24896259 |
dgv254n21 | CNV | loss | 19592680 |
dgv7919n54 | CNV | loss | 21841781 |
dgv7920n54 | CNV | loss | 21841781 |
esv1025241 | CNV | insertion | 17803354 |
esv1396032 | CNV | insertion | 17803354 |
esv1409667 | CNV | insertion | 17803354 |
esv1561412 | CNV | insertion | 17803354 |
esv2723849 | CNV | deletion | 23290073 |
esv2723851 | CNV | deletion | 23290073 |
esv2723852 | CNV | deletion | 23290073 |
esv2723853 | CNV | deletion | 23290073 |
esv3557859 | CNV | deletion | 23714750 |
nsv1109448 | CNV | deletion | 24896259 |
nsv1126010 | CNV | deletion | 24896259 |
nsv1129227 | CNV | insertion | 24896259 |
nsv470910 | CNV | gain | 18288195 |
nsv509804 | CNV | insertion | 20534489 |
nsv513579 | CNV | insertion | 21212237 |
nsv587930 | CNV | loss | 21841781 |
nsv587933 | CNV | loss | 21841781 |
nsv587934 | CNV | loss | 21841781 |
nsv587935 | CNV | gain | 21841781 |
nsv953657 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ullrich congenital muscular dystrophy 1 |
|
|
bethlem myopathy 1 |
|
|
myopathy |
|
|
collagen vi-related myopathy |
|
|
diffuse idiopathic skeletal hyperostosis |
|
|