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 localize to extrinsic component of membrane. 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-like, N-terminal domain |
| Domain | IPR031642 | VPS13, middle RBG modules |
| Domain | IPR031645 | Vacuolar protein sorting-associated protein 13, DH-like domain |
| Domain | IPR031646 | Vacuolar protein sorting-associated protein 13, extended chorein |
| 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 | 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, DH-like domain | Vacuolar protein sorting-associated protein 13, extended chorein | Vacuolar protein sorting-associated protein 13-like, N-terminal domain | Vacuolar protein sorting-associated protein 13, VPS13 adaptor binding domain | VPS13, middle RBG modules |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3B663
|
4361 | |||||||||
|
UniProtKB:A0A8M1QUR7
|
4386 | |||||||||
|
UniProtKB:A0A8M9P5F9
|
4361 | |||||||||
|
UniProtKB:A0A8M9PTG6
|
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