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This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]
COL8A1 (Collagen Type VIII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL8A1 include Corneal Dystrophy and Corneal Endothelial Dystrophy. Among its related pathways are Integrin Pathway and Degradation of the extracellular matrix. An important paralog of this gene is COL8A2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005201 | extracellular matrix structural constituent | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA | 20551380 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005581 | collagen trimer | IEA | -- |
GO:0005591 | collagen type VIII trimer | TAS | 2029894 |
GO:0005604 | basement membrane | IEA | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
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 | Phospholipase-C Pathway |
Phospholipase-C Pathway
.56
|
PTEN Pathway
.56
|
5 | Degradation of the extracellular matrix |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001525 | angiogenesis | IEA | -- |
GO:0007155 | cell adhesion | IEA | -- |
GO:0010811 | positive regulation of cell-substrate adhesion | IEA | -- |
GO:0030198 | extracellular matrix organization | TAS | -- |
GO:0035987 | endodermal cell differentiation | IEP | 23154389 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||
SP6: | - | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COL8A1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | COL8A1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | COL8A1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | COL8A1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Col8a1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Col8a1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | COL8A1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | COL8A1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | COL8A1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | col8a1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.12569 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | col8a1a 31 |
|
OneToMany | |
col8a1b 30 31 |
|
OneToMany | |||
wufb18b08 30 |
|
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
784470 | Benign: not provided | 99,795,506(+) | C/T | SYNONYMOUS_VARIANT | |
rs13081855 | Not Provided: not provided | 99,762,695(+) | G/T | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2658441 | CNV | deletion | 23128226 |
esv2660038 | CNV | deletion | 23128226 |
esv2666929 | CNV | deletion | 23128226 |
esv3597151 | CNV | gain | 21293372 |
esv3597154 | CNV | loss | 21293372 |
esv3597155 | CNV | loss | 21293372 |
esv3597157 | CNV | loss | 21293372 |
nsv1151786 | CNV | duplication | 26484159 |
nsv477338 | CNV | novel sequence insertion | 20440878 |
nsv478220 | CNV | novel sequence insertion | 20440878 |
nsv508231 | CNV | deletion | 20534489 |
nsv822193 | CNV | loss | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
corneal dystrophy |
|
|
corneal endothelial dystrophy |
|
|
refractive error |
|
|
corneal dystrophy, posterior polymorphous, 1 |
|
|
keratoconus |
|
|