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This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008]
COL16A1 (Collagen Type XVI Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL16A1 include Potter's Syndrome. Among its related pathways are Integrin Pathway and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include integrin binding. An important paralog of this gene is COL5A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005178 | integrin binding | IDA | 16754661 |
GO:0005201 | extracellular matrix structural constituent | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 15165854 |
GO:0008201 | heparin binding | IBA | -- |
GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA | 25037231 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005581 | collagen trimer | IEA | -- |
GO:0005588 | collagen type V trimer | IBA | 21873635 |
GO:0005597 | collagen type XVI trimer | TAS | 1284248 |
GO:0005615 | extracellular space | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | 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
|
2 | Collagen chain trimerization |
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
|
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
4 | Degradation of the extracellular matrix | ||
5 | Phospholipase-C Pathway |
Phospholipase-C Pathway
.56
|
PTEN Pathway
.56
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001763 | morphogenesis of a branching structure | IBA | -- |
GO:0007155 | cell adhesion | IEA,IDA | 16754661 |
GO:0007160 | cell-matrix adhesion | IBA | -- |
GO:0007229 | integrin-mediated signaling pathway | TAS | 16754661 |
GO:0007565 | female pregnancy | TAS | 1284248 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | ^ | 22 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 | ^ | 33 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||
SP10: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COL16A1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | COL16A1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | COL16A1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Col16a1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Col16a1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | COL16A1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | COL16A1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | COL16A1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | COL16A1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100497018 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | col16a1 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG42342 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | col-99 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
715549 | Benign: not provided | 31,679,814(-) | G/T | MISSENSE_VARIANT | |
771840 | Likely Benign: not provided | 31,692,475(-) | T/C | MISSENSE_VARIANT | |
775528 | Benign: not provided | 31,691,647(-) | G/C | INTRON_VARIANT | |
782078 | Benign: not provided | 31,694,180(-) | C/T | INTRON_VARIANT | |
rs2228552 | - | p.Thr62Lys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2758930 | CNV | loss | 17122850 |
nsv1000976 | CNV | loss | 25217958 |
nsv461028 | CNV | loss | 19166990 |
nsv470708 | CNV | loss | 18288195 |
nsv472148 | CNV | novel sequence insertion | 20440878 |
nsv528364 | CNV | loss | 19592680 |
nsv545951 | CNV | gain | 21841781 |
nsv545952 | CNV | gain | 21841781 |
nsv545953 | CNV | loss | 21841781 |
nsv818123 | CNV | loss | 17921354 |
nsv950385 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
potter's syndrome |
|
|