background:
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) 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 SLCterminal TS motifs, and some have unique SLCterminal domains. The enzyme encoded by this gene is the von Willebrand Factor (vWF)-cleaving protease, which is responsible for cleaving at the site of Tyr842-Met843 of the vWF molecule. A deficiency of this enzyme is associated with thrombotic thrombocytopenic purpura. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2008].
Function:
Cleaves the vWF multimers in plasma into smaller forms.
Subcellular Location:
Secreted. Note=Secretion enhanced by O-fucosylation of TSP type-1 repeats.
Tissue Specificity:
Plasma. Expressed primarily in liver.
Post-translational modifications:
Glycosylated. 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 ADAMTS13. May also be SLCglycosylated on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and also N-glycosylated. These other glycosylations can also facilitate secretion.
The precursor is processed by a furin endopeptidase which cleaves off the pro-domain.
DISEASE:
Defects in ADAMTS13 are the cause of thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]; also known as Upshaw-Schulman syndrome (USS). A hematologic disease characterized by hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decreased renal function and fever.
Similarity:
Contains 2 CUB domains.
Contains 1 disintegrin domain.
Contains 1 peptidase M12B domain.
Contains 8 TSP type-1 domains.
Database links:
Entrez Gene: 11093 Human
Entrez Gene: 279028 Mouse
Entrez Gene: 362091 Rat
Omim: 604134 Human
SwissProt: Q76LX8 Human
SwissProt: Q769J6 Mouse
Unigene: 131433 Human
Unigene: 330084 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
细胞外基质蛋白
|
|
