Gene
vwa1
- ID
- ZDB-GENE-030131-5921
- Name
- von Willebrand factor A domain containing 1
- Symbol
- vwa1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including nervous system development; neural crest cell development; and regulation of cartilage condensation. Predicted to be located in basement membrane and extracellular region. Predicted to be active in collagen-containing extracellular matrix. Is expressed in head; pharyngeal arch; pharyngeal pouch; somite; and ventral mandibular arch. Used to study motor neuron disease. Human ortholog(s) of this gene implicated in autosomal recessive distal hereditary motor neuronopathy 7. Orthologous to human VWA1 (von Willebrand factor A domain containing 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 15 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive distal hereditary motor neuronopathy 7 | Alliance | Neuronopathy, distal hereditary motor, autosomal recessive 7 | 619216 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| motor neuron disease | vu19Tg + MO2-vwa1 | standard conditions | Pagnamenta et al., 2021 |
| motor neuron disease | vu19Tg + CRISPR5-vwa1 + CRISPR6-vwa1 | standard conditions | Pagnamenta et al., 2021 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002035 | von Willebrand factor, type A |
| Domain | IPR003961 | Fibronectin type III |
| Family | IPR050525 | Extracellular Matrix Assembly and Organization |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
| Homologous_superfamily | IPR036465 | von Willebrand factor A-like domain superfamily |
Domain Details Per Protein
| Protein | Length | Extracellular Matrix Assembly and Organization | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin-like fold | von Willebrand factor A-like domain superfamily | von Willebrand factor, type A |
|---|---|---|---|---|---|---|---|
|
UniProtKB:E7FF10
|
503 |
Interactions and Pathways
No data available
Plasmids
No data available