ADAMTS13 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | ADAMTS13 |
| Official Name | ADAM metallopeptidase with thrombospondin type 1 motif 13 [Source:HGNC Symbol;Acc:HGNC:1366] |
| Ensembl ID | ENSG00000160323 |
| Bio databases IDs | |
| Aliases | ADAM metallopeptidase with thrombospondin type 1 motif 13 |
| Synonyms | ADAM metallopeptidase with thrombospondin type 1 motif 13, ADAM metallopeptidase with thrombospondin type 1 motif, 13, C9orf8, DKFZp434C2322, Gm710, LOC102554283, TTP, VWFCP |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ADAMTS13 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Thrombospondin type 1 repeats
- Thrombospondin type 1 domain
- thrombospondin-1 motif
- ADAMTS cysteine-rich domain 2
- metalloprotease domain
- ADAMTS cysteine-rich domain
- peptidase
- calcium ion binding
- protein binding
- disintergrin domain
- metallopeptidase
- ADAM-TS Spacer 1
- ZnMc
- endopeptidase
- zinc ion binding
- spacer domain
- Metallo-peptidase family M12B Reprolysin-like
- thrombospondin properdin-like repeat
- integrin binding
- Reprolysin (M12B) family zinc metalloprotease
- Spondin-like TSP1 domain
- cysteine rich domain
- metalloendopeptidase
Pathways
Biological processes and signaling networks where the ADAMTS13 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- vascular leak syndrome
- congenital thrombotic thrombocytopenic purpura
- arterial thrombosis
- thrombotic thrombocytopenic purpura
- blood coagulation disorder
- prostate cancer
- Schulman-Upshaw syndrome
- reperfusion injury
- alcoholic hepatitis
- myocardial infarction
role in cell
- aggregation
- apoptosis
- adhesion
- function
- capture
- recruitment
- abnormal morphology
- cellular infiltration by
- activation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- endoplasmic reticulum lumen
- extracellular matrix
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ADAMTS13 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell-matrix adhesion
- glycoprotein metabolic process
- response to amine stimulus
- protein catabolic process
- blood coagulation
- response to toxin
- integrin-mediated signaling pathway
- peptide catabolic process
- cellular response to lipopolysaccharide
- cellular response to interleukin-4
- proteolysis
- extracellular matrix organization
- protein processing
- cellular response to tumor necrosis factor
- cellular response to interferon-gamma
- platelet activation
- response to potassium ion
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- extracellular matrix
- extracellular region
- cell surface
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding
- calcium ion binding
- integrin binding
- metalloendopeptidase activity
- metallopeptidase activity