VWA1 Gene Summary [Human]
VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010]
Details
| Type | Protein Coding |
| Official Symbol | VWA1 |
| Official Name | von Willebrand factor A domain containing 1 [Source:HGNC Symbol;Acc:HGNC:30910] |
| Ensembl ID | ENSG00000179403 |
| Bio databases IDs | |
| Aliases | von Willebrand factor A domain containing 1 |
| Synonyms | 4932416A11RIK, HMNMYO, HMNR7, RGD1311476, von Willebrand factor A domain containing 1, WARP |
| 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 VWA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- von Willebrand factor (vWF) type A domain
- FN3
- vWFA
- Purple acid Phosphatase, N-terminal domain
- protein homodimerization
- protein binding
- von Willebrand factor type A domain
- Fibronectin type 3 domain
- identical protein binding
- microfibril binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary motor neuropathy with myopathic features
- neuromuscular disease
- angioimmunoblastic T-cell lymphoma
- T-cell non-Hodgkin disease
- mature T-cell neoplasia
role in cell
- organization
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
- extrafibrillar region
- cell-associated matrix
- endoplasmic reticulum lumen
- extracellular matrix
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human VWA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- behavioral response to pain
- extracellular matrix organization
- protein homooligomerization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- basement membrane
- extracellular space
- interstitial matrix
- extracellular vesicular exosome
Molecular Function
What the gene product does at the molecular level
- protein homodimerization activity
- extracellular matrix structural constituent
- microfibril binding