Gene
vps11
- ID
- ZDB-GENE-050731-5
- Name
- VPS11 core subunit of CORVET and HOPS complexes
- Symbol
- vps11 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to have protein binding activity, bridging. Involved in several processes, including animal organ development; melanocyte apoptotic process; and melanocyte differentiation. Predicted to localize to HOPS complex and endosome. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy 12. Is expressed in brain; heart; immature eye; and retina. Orthologous to human VPS11 (VPS11 core subunit of CORVET and HOPS complexes).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 15 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| dystonia 32 | Alliance | ?Dystonia 32 | 619637 |
| hypomyelinating leukodystrophy 12 | Alliance | Leukodystrophy, hypomyelinating, 12 | 616683 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001841 | Zinc finger, RING-type |
| Domain | IPR018957 | Zinc finger, C3HC4 RING-type |
| Domain | IPR024763 | Vacuolar protein sorting protein 11, C-terminal |
| Family | IPR016528 | Vacuolar protein sorting-associated protein 11 |
| Homologous_superfamily | IPR011990 | Tetratricopeptide-like helical domain superfamily |
| Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
| Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
| Homologous_superfamily | IPR016024 | Armadillo-type fold |
| Homologous_superfamily | IPR036322 | WD40-repeat-containing domain superfamily |
| Repeat | IPR000547 | Clathrin, heavy chain/VPS, 7-fold repeat |
Domain Details Per Protein
| Protein | Length | Armadillo-type fold | Clathrin, heavy chain/VPS, 7-fold repeat | Tetratricopeptide-like helical domain superfamily | Vacuolar protein sorting-associated protein 11 | Vacuolar protein sorting protein 11, C-terminal | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily | Zinc finger, C3HC4 RING-type | Zinc finger, RING/FYVE/PHD-type | Zinc finger, RING-type |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q4G0A0
|
927 |
Interactions and Pathways
No data available
Plasmids
No data available