Gene
vps45
- ID
- ZDB-GENE-060503-526
- Name
- vacuolar protein sorting 45 homolog
- Symbol
- vps45 Nomenclature History
- Previous Names
-
- si:dkey-200h23.3
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Acts upstream of or within regulation of lens fiber cell differentiation. Predicted to be active in Golgi membrane. Human ortholog(s) of this gene implicated in severe congenital neutropenia 5. Orthologous to human VPS45 (vacuolar protein sorting 45 homolog).
- 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
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| severe congenital neutropenia 5 | Alliance | Neutropenia, severe congenital, 5, autosomal recessive | 615285 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Sec1-like, domain 1 | Sec1-like, domain 2 | Sec1-like, domain 3a | Sec1-like protein | Sec1-like superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:A8E7N5
|
568 |
Interactions and Pathways
No data available
Plasmids
No data available