ADAMTS13
ADAM Metallopeptidase with Thrombospondin Type 1 Motif 13
Gene Information Card
| Symbol | ADAMTS13 |
|---|---|
| Full Name | ADAM Metallopeptidase with Thrombospondin Type 1 Motif 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.2 |
| NCBI Gene ID | 11093 ncbi.nlm.nih.gov/gene/11093 |
| Ensembl ID | ENSG00000160323 |
| UniProt ID | Q76LX8 |
| OMIM ID | 604134 |
| HGNC ID | 1366 |
| Aliases | VWFCP, TTP, C9orf8, ADAM-TS13, ADAMTS-13, vWF-CP |
Description
ADAMTS13 encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin type 1 motif) family. The encoded enzyme is a zinc metalloproteinase that specifically cleaves von Willebrand factor (VWF) multimers, regulating VWF size and activity. Deficiency or dysfunction of ADAMTS13 leads to accumulation of ultra-large VWF multimers, causing platelet aggregation and microvascular thrombosis, characteristic of thrombotic thrombocytopenic purpura (TTP).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thrombotic thrombocytopenic purpura (TTP) | Loss-of-function mutations or autoantibodies against ADAMTS13 reduce VWF cleavage, leading to microthrombi formation. | OMIM #274150 |
| Upshaw-Schulman syndrome | Congenital ADAMTS13 deficiency due to biallelic mutations, causing recurrent TTP episodes. | OMIM #274150 |
| Stroke (ischemic) | Reduced ADAMTS13 activity is associated with increased risk of ischemic stroke in some populations. | ClinVar, PMID: 23348762 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 27.2 | High |
| Kidney | 3.1 | Low |
| Pancreas | 2.5 | Low |
| Adrenal gland | 1.8 | Low |
| Small intestine | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 28.5 | Hepatocyte-derived cell line |
| HEK 293 | 0.8 | Low expression |
| K562 (leukemia) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.414+1G>A (IVS4+1G>A) | Splice site | Common in European TTP patients | Loss of function |
| p.R1026C (c.3076C>T) | Missense | Found in congenital TTP | Reduced secretion and activity |
| p.Q448* (c.1342C>T) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ADAMTS13 mutations are loss-of-function, reducing or abolishing VWF-cleaving activity, leading to TTP.
Gain of Function (GOF)
No gain-of-function mutations reported in ADAMTS13.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by impairing multimer formation or secretion, though recessive inheritance is typical.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity (GO:0004222) | • zinc ion binding (GO:0008270) |
| • proteolysis (GO:0006508) | • regulation of blood coagulation (GO:0030193) |
| • extracellular region (GO:0005576) |
Pathways
• Complement and coagulation cascades (KEGG: hsa04610)
• ADAMTS13-mediated VWF cleavage (Reactome: R-HSA-5693568)
Protein Summary
ADAMTS13 is a 1427-amino acid zinc metalloproteinase primarily synthesized in hepatic stellate cells and hepatocytes. It consists of a metalloprotease domain, a disintegrin-like domain, multiple thrombospondin type 1 repeats, and CUB domains. The enzyme circulates in plasma and specifically cleaves von Willebrand factor at the Tyr1605-Met1606 bond, preventing spontaneous platelet aggregation. Deficiency leads to thrombotic thrombocytopenic purpura.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTS13 Knockout HEK293 Cell Line | EDJ-KQ7280 | Human | 11093 | Details Get a Quote |
| ADAMTS13 Knockout HCT 116 Cell Line | EDJ-KQ32307 | Human | 11093 | Details Get a Quote |
| ADAMTS13 Knockout HeLa Cell Line | EDJ-KQ55569 | Human | 11093 | Details Get a Quote |
| ADAMTS13 Knockout A-549 Cell Line | EDJ-KQ64064 | Human | 11093 | Details Get a Quote |
