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Literature summary for 3.4.24.87 extracted from

  • Feys, H.B.; Pareyn, I.; Vancraenenbroeck, R.; De Maeyer, M.; Deckmyn, H.; Van Geet, C.; Vanhoorelbeke, K.
    Mutation of the H-bond acceptor S119 in the ADAMTS13 metalloprotease domain reduces secretion and substrate turnover in a patient with congenital thrombotic thrombocytopenic purpura (2009), Blood, 114, 4749-4752.
    View publication on PubMed
Search for more literature for 3.4.24.87

Protein Variants

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

Localization Comment Organism GeneOntology No. Textmining
extracellular
-
 Homo sapiens
-
-

Metals/Ions

Metals/Ions Comment Organism Structure
Zn2+ metalloprotease Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
von Willebrand factor + H2O Homo sapiens
-
 ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
plasma
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms Comment Organism
ADAMTS13 i.e. a disintegrin and metalloprotease with thrombospondin motifs-13 Homo sapiens

General Information

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