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This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]
ADAMTS6 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 6) is a Protein Coding gene. Diseases associated with ADAMTS6 include Inguinal Hernia and Weill-Marchesani Syndrome. Among its related pathways are Metabolism of proteins and O-glycosylation of TSR domain-containing proteins. Gene Ontology (GO) annotations related to this gene include peptidase activity and metallopeptidase activity. An important paralog of this gene is ADAMTS10.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004222 | metalloendopeptidase activity | IEA | -- |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008237 | metallopeptidase activity | TAS | 10464288 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0031012 | extracellular matrix | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | O-glycosylation of TSR domain-containing proteins | ||
2 | Diseases of glycosylation | ||
3 | Metabolism of proteins | ||
4 | HIV Life Cycle |
.45
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|
5 | O-linked glycosylation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003279 | cardiac septum development | IEA | -- |
GO:0006508 | proteolysis | IEA | -- |
GO:0007507 | heart development | IEA | -- |
GO:0030198 | extracellular matrix organization | IBA | 21873635 |
GO:0035904 | aorta development | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ADAMTS6 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ADAMTS6 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ADAMTS6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ADAMTS6 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Adamts6 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Adamts6 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ADAMTS6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ADAMTS6 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | adamts6 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | adamts6 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG14869 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | gon-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
786057 | Benign: not provided | 65,224,338(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5693n100 | CNV | gain | 25217958 |
esv2672410 | CNV | deletion | 23128226 |
esv26770 | CNV | loss | 19812545 |
esv2730275 | CNV | deletion | 23290073 |
esv2730276 | CNV | deletion | 23290073 |
esv3347526 | CNV | insertion | 20981092 |
esv3375527 | CNV | duplication | 20981092 |
esv3431828 | CNV | duplication | 20981092 |
esv3566025 | CNV | deletion | 23714750 |
esv3566027 | CNV | deletion | 23714750 |
esv3605299 | CNV | loss | 21293372 |
esv3605300 | CNV | loss | 21293372 |
esv3605301 | CNV | loss | 21293372 |
esv8314 | CNV | gain | 19470904 |
nsv1073887 | CNV | deletion | 25765185 |
nsv1115692 | CNV | duplication | 24896259 |
nsv474000 | CNV | novel sequence insertion | 20440878 |
nsv477387 | CNV | novel sequence insertion | 20440878 |
nsv4863 | CNV | insertion | 18451855 |
nsv512852 | CNV | insertion | 21212237 |
nsv830325 | CNV | gain | 17160897 |
nsv968184 | CNV | duplication | 23825009 |
nsv980650 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
inguinal hernia |
|
|
weill-marchesani syndrome |
|
|
keratoconus |
|
|
geleophysic dysplasia |
|
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