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. 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
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR009543 | Vacuolar protein sorting-associated protein 13, VPS13 adaptor binding domain |
| Domain | IPR015940 | Ubiquitin-associated domain |
| Domain | IPR026854 | Vacuolar protein sorting-associated protein 13, N-terminal domain |
| Domain | IPR041969 | Intermembrane lipid transfer protein VPS13D, UBA domain |
| Family | IPR026847 | Vacuolar protein sorting-associated protein 13 |
| Homologous_superfamily | IPR009060 | UBA-like superfamily |
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 | Vacuolar protein sorting-associated protein 13, N-terminal domain | Vacuolar protein sorting-associated protein 13, VPS13 adaptor binding domain |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3B663 | InterPro | 4361 | ||||||
| UniProtKB:A0A8M1QUR7 | InterPro | 4386 | ||||||
| UniProtKB:A0A8M9P5F9 | InterPro | 4361 | ||||||
| UniProtKB:A0A8M9PTG6 | InterPro | 4386 | ||||||
| UniProtKB:A0AB32THN6 | InterPro | 4375 | ||||||
| UniProtKB:A0AB32TJB7 | InterPro | 4400 | ||||||
| UniProtKB:A0AB32TK16 | InterPro | 4400 | ||||||
| UniProtKB:A0AB32TMM9 | InterPro | 4375 |
| 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