Gene
vps13d
- ID
- ZDB-GENE-050912-1
- Name
- vacuolar protein sorting 13 homolog D
- Symbol
- vps13d Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to be involved in mitochondrion organization; protein retention in Golgi apparatus; and protein targeting to vacuole. Predicted to act upstream of or within lipid transport. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 4. Orthologous to human VPS13D (vacuolar protein sorting 13 homolog D).
- 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 |
|---|---|---|---|
| autosomal recessive spinocerebellar ataxia 4 | Alliance | Spinocerebellar ataxia, autosomal recessive 4 | 607317 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Intermembrane lipid transfer protein VPS13D, UBA domain | UBA-like superfamily | Ubiquitin-associated domain | Vacuolar protein sorting-associated protein 13 |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3B663 | InterPro | 4361 | ||||
| UniProtKB:A0A8M1QUR7 | InterPro | 4386 | ||||
| UniProtKB:A0A8M9P5F9 | InterPro | 4361 | ||||
| UniProtKB:A0A8M9PTG6 | InterPro | 4386 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
vps13d-201
(1)
|
Ensembl | 11,871 nt | ||
| mRNA |
vps13d-202
(1)
|
Ensembl | 6,531 nt | ||
| mRNA |
vps13d-203
(1)
|
Ensembl | 6,932 nt |
Interactions and Pathways
No data available
Plasmids
No data available