ADAMTS13 - ADAM metallopeptidase with thrombospondin type 1 motif 13 Gene
Also Known as VWFCP; C9orf8; vWF-CP; ADAM-TS13; ADAMTS-13
Species: Homo sapiens
About ADAMTS13
This gene has 9 transcripts (splice variants), 1 gene allele, 199 orthologues, 25 paralogues and is associated with 2 phenotypes. Broad expression in liver (RPKM 4.0), testis (RPKM 2.7) and 24 other tissues.
Summary
This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
ADAMTS13 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_139025.5 | NP_620594.1 | A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 1 preproprotein |
| NM_139026.6 | NP_620595.1 | A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 3 preproprotein |
| NM_139027.6 | NP_620596.2 | A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 2 preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables metalloendopeptidase activity |
EXP
EXP: Inferred from Experiment
|
12775718 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12775718 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in peptide catabolic process |
IDA
IDA: Inferred from direct assay
|
11535495 | GOA |
| involved in proteolysis |
IDA
IDA: Inferred from direct assay
|
11535495 | GOA |
ADAMTS13 Protein Structure
Reprolysin: Reprolysin (M12B) family zinc metalloprotease (122 - 286)
TSP_1: Thrombospondin type 1 domain (388 - 438)
TSP_1: Thrombospondin type 1 domain (751 - 804)
TSP_1: Thrombospondin type 1 domain (960 - 1012)
TSP_1: Thrombospondin type 1 domain (1022 - 1052)
TSP_1: Thrombospondin type 1 domain (1079 - 1105)
- 0
- 300
- 600
- 900
- 1200
- 1427 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
A disintegrin and metalloproteinase with thrombospondin motifs 13 |
|
ADAMTS13 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ADAMTS13 | Q76LX8 | VWF | Homo sapiens | P04275 | 16221672 | |
|
Intra
|
ADAMTS13 | Q76LX8 | VWF | Homo sapiens | P04275 | 25512528 | |
|
Intra
|
ADAMTS13 | Q76LX8 | VWF | Homo sapiens | P04275 | 16221672 | |
|
Intra
|
ADAMTS13 | Q76LX8 | VWF | Homo sapiens | P04275 | 25512528 |
Recombinant ADAMTS13 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P79144 | ADAMTS13 Protein, Human (CHO, His) | NP_620594 (Q34-W688) | ≥ 95%, as determined by reducing SDS-PAGE. |
ADAMTS13 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82257 | ADAMTS13 Antibody (YA2002) | WB, FC | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
|
| Thrombotic Thrombocytopenic Purpura |
|
|
| Thrombocytopenia |
|
|
| Purpura |
|
|
| Malignant Hypertension |
|
|
| Evans' Syndrome |
|
|
| Hemolytic-Uremic Syndrome |
|
|
| Hemolytic Uremic Syndrome, Atypical 1 |
|
|
| Disseminated Intravascular Coagulation |
|
|
| Hemolytic Anemia |
|
|
| D-Minus Hemolytic Uremic Syndrome |
|
|
| Hellp Syndrome |
|
|
| Von Willebrand'S Disease |
|
|
| Antiphospholipid Syndrome |
|
|
| Thrombosis |
|
|
| Alcoholic Hepatitis |
|
|
| Acquired Von Willebrand Syndrome |
|
|
| Acute Kidney Failure |
|
|
| Blood Coagulation Disease |
|
|
| Mixed Connective Tissue Disease |
|
|
| Connective Tissue Disease |
|
|
| Kidney Cortex Necrosis |
|
|
| Neonatal Jaundice |
|
|
| Primary Thrombocytopenia |
|
|
| Raynaud Disease |
|
|
| Nephrosclerosis |
|
|
| Hypertensive Retinopathy |
|
|
| Malaria |
|
|
| Von Willebrand Disease, Type 2 |
|
|
| Von Willebrand Disease, Type 3 |
|
|
| Liver Cirrhosis |
|
|
| Hypertensive Encephalopathy |
|
|
| Von Willebrand Disease, Type 1 |
|
|
| Acute Myocardial Infarction |
|
|
| Bilirubin Metabolic Disorder |
|
|
| Systemic Lupus Erythematosus |
|
|
| Coronary Stenosis |
|
|
| Complement Deficiency |
|
|
| Angiodysplasia |
|
|
| Splenic Sequestration |
|
|
| Autoimmune Disease Of Blood |
|
|
| Anuria |
|
|
| Deficiency Anemia |
|
|
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
|
| Blood Platelet Disease |
|
|
| Pre-Eclampsia |
|
|
| Severe Pre-Eclampsia |
|
|
| Hemorrhagic Disease |
|
|
| Diarrhea |
|
|
| Purpura Fulminans |
|
|
| Thrombocytopenic Purpura, Autoimmune |
|
|
| Myocardial Infarction |
|
|
| Thrombocytopenia Due To Platelet Alloimmunization |
|
|
| Peters-Plus Syndrome |
|
|
| Autoimmune Disease Of Cardiovascular System |
|
|
| Anemia, Autoimmune Hemolytic |
|
|
| Weill-Marchesani Syndrome |
|
|
| Chronic Kidney Disease |
|
|
| Membranoproliferative Glomerulonephritis |
|
|
| Methylmalonic Acidemia |
|
|
| Stroke, Ischemic |
|
|
| Galloway-Mowat Syndrome 1 |
|
|
| Hypertension, Essential |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | ADAMTS13 | RGD | RGD:1311594 |
| Bos taurus | ADAMTS13 | VGNC | VGNC:25617 |
| Macaca mulatta | ADAMTS13 | VGNC | VGNC:69389 |
| Canis familiaris | ADAMTS13 | VGNC | VGNC:37592 |
| Felis catus | ADAMTS13 | VGNC | VGNC:82455 |
| Mus musculus | ADAMTS13 | MGD | MGI:2685556 |
| Others | ADAMTS13 | NCBI |