ADAMTS10 is a member of the ADAMs family of proteinases with Thrombospondin motifs. The catalytic site of ADAMTS10 is typical of the metalloproteinase catalytic domains, with an HExxHxxxxxH sequence, perhaps giving these enzymes some shared specificity. ADAMTS10 is closest in homology to ADAMTS6, sharing 53% overall identity. Functional mutations in ADAMTS10 have been linked to Weill Marchesani syndrome, a connective tissue disorder marked by fibrillin 1 misprocessing. ADAMTS10 has also been reported to be over expressed in breast cancer tissues and cell lines.
Function:
Metalloprotease that participate in microfibrils assembly. Microfibrils are extracellular matrix components occurring independently or along with elastin in the formation of elastic tissues.
Subunit:
Interacts with FBN1; this interaction promotes microfibrils assembly.
Subcellular Location:
Secreted, extracellular space, extracellular matrix.
Tissue Specificity:
Widely expressed in adult tissues.
Post-translational modifications:
Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be SLCglycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).
DISEASE:
Defects in ADAMTS10 are the cause of Weill-Marchesani syndrome 1 (WMS1) [MIM:277600]. WMS1 is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.
Similarity:
Contains 1 disintegrin domain.
Contains 1 peptidase M12B domain.
Contains 1 PLAC domain.
Contains 5 TSP type-1 domains.
SWISS:
Q9H324
Gene ID:
81794
Database links:
Entrez Gene: 81794 Human
Entrez Gene: 224697 Mouse
Entrez Gene: 314655 Rat
Omim: 608990 Human
SwissProt: Q9H324 Human
SwissProt: P58459 Mouse
Unigene: 657508 Human
Unigene: 29304 Mouse
Unigene: 135600 Rat
|
|
