Summary for peptidase M12.241: ADAMTS13 peptidase

Summary Alignment Tree Sequences Sequence features Distribution Structure Literature Human EST Substrates


MEROPS NameADAMTS13 peptidase
Other namesvon Willebrand factor protease, vWF-cleaving protease
Domain architecture
MEROPS Classification
Classification Clan MA >> Subclan MA(M) >> Family M12 >> Subfamily B >> M12.241
HolotypeADAMTS13 peptidase (Homo sapiens), Uniprot accession Q76LX8 (peptidase unit: 62-286), MERNUM MER0015450
History Identifier created: MEROPS 5.7 (17 December 2001)
Catalytic typeMetallo
PeplistIncluded in the Peplist with identifier PL00199
NC-IUBMBSubclass 3.4 (Peptidases) >> Sub-subclass 3.4.24 (Metalloendopeptidases) >> Peptidase
EnzymologyBRENDA database
Proteolytic eventsCutDB database (1 cleavage)
Physiologyvon Willebrand factor (vWF) circulates in plasma as a group of multimers ranging from 500 kDa to 10,000 kDa. An important mechanism for depolymerization of the large multimers is limited proteolysis by a vWF-cleaving protease present in plasma. The endopeptidase is now identified as ADAMTS13. The absence or inactivation of the vWF-cleaving protease results in the accumulation of large multimers, which may cause thrombotic thrombocytopenic purpura (TPP) (Fujikawa et al., 2001; Barbot et al., 2001). Naturally-occurring human mutations in the gene cause thrombotic thrombocytopenic purpura (Levy et al., 2001), but low actity of ADAMTS13 can be also due to the presence of autoimmune IgG inhibitors (Tsai, 2002).
KnockoutADAMTS13-deficient mice are viable and exhibit normal survival, but can display characteristics of thrombocytopenic purpura in response to certain challenges (Motto et al., 2005).
Other databases WIKIPEDIA
Human genetics
Gene symbol Locus Megabases Ensembl Entrez gene Gene Cards OMIM
ADAMTS13 9q34 ENSG00000160323 11093 ADAMTS13 604134