Gene
avil
- ID
- ZDB-GENE-060421-6683
- Name
- advillin
- Symbol
- avil Nomenclature History
- Previous Names
-
- zgc:136857
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable actin filament binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Predicted to be involved in actin filament severing; actin polymerization or depolymerization; and barbed-end actin filament capping. Predicted to act upstream of or within actin filament capping and cytoskeleton organization. Predicted to be active in actin cytoskeleton and cytoplasm. Human ortholog(s) of this gene implicated in nephrotic syndrome type 21. Orthologous to human AVIL (advillin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
nephrotic syndrome type 21 | Alliance | Nephrotic syndrome, type 21 | 618594 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR003128 | Villin headpiece |
Domain | IPR007123 | Gelsolin-like domain |
Family | IPR007122 | Villin/Gelsolin |
Homologous_superfamily | IPR029006 | ADF-H/Gelsolin-like domain superfamily |
Homologous_superfamily | IPR036180 | Gelsolin-like domain superfamily |
Homologous_superfamily | IPR036886 | Villin headpiece domain superfamily |
Domain Details Per Protein
Protein | Length | ADF-H/Gelsolin-like domain superfamily | Gelsolin-like domain | Gelsolin-like domain superfamily | Villin/Gelsolin | Villin headpiece | Villin headpiece domain superfamily |
---|---|---|---|---|---|---|---|
UniProtKB:Q1RLT7
|
811 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available