Protein Variants | Comment | Organism |
---|---|---|
S119A | site-directed mutagensis, mutant S119A has properties similar to natural mutant S119F | Homo sapiens |
S119F | a naturally occuring mutation in the ADAMTS13 metalloprotease domain that leads to distorted kinetics and to the loss of the H-bond with conserved residue W262, the mutation is involved in development of hereditary thrombotic thrombocytopenic purpura due to reduced ADAMTS13 activity, overview. Secreted S119F is active toward multimeric von Willebrand factor and FRETSVWF73 but with abnormal kinetics. The mutant is expressed normally, but shows markedly impaired secretion | Homo sapiens |
S119F/Q448E | naturally occuring mutation in the ADAMTS13 metalloprotease domain. The mutant is expressed normally, but shows markedly impaired secretion | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
extracellular | - |
Homo sapiens | - |
- |
Metals/Ions | Comment | Organism | Structure |
---|---|---|---|
Zn2+ | metalloprotease | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
von Willebrand factor + H2O | Homo sapiens | - |
? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
plasma | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
FRETSVWF73 + H2O | a von Willebrand factor-derived fluorescein-labeled peptide substrate | Homo sapiens | ? | - |
? | |
von Willebrand factor + H2O | - |
Homo sapiens | ? | - |
? | |
von Willebrand factor + H2O | the S119-W262 H-bond in the ADAMTS13 metalloprotease domain is crucial for maximal turnover | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
ADAMTS13 | i.e. a disintegrin and metalloprotease with thrombospondin motifs-13 | Homo sapiens |
General Information | Comment | Organism |
---|---|---|
physiological function | mutations in ADAMTS13 cause hereditary thrombotic thrombocytopenic purpura resulting in defective processing of von Willebrand factor that causes intravascular platelet aggregation culminating in thrombocytopenia with shistocytic anemia | Homo sapiens |