Gene
vps13a
- ID
- ZDB-GENE-030926-1
- Name
- vacuolar protein sorting 13 homolog A
- Symbol
- vps13a Nomenclature History
- Previous Names
-
- chac (1)
- wu:fc10c04
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to be involved in autophagy; 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 choreaacanthocytosis and choreatic disease. Orthologous to human VPS13A (vacuolar protein sorting 13 homolog A).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 1 figure from Hoshijima et al., 2002
- 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 |
---|---|---|---|
choreaacanthocytosis | Alliance | Choreoacanthocytosis | 200150 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR009543 | Vacuolar protein sorting-associated protein 13, VPS13 adaptor binding domain |
Domain | IPR015412 | Atg2/VPS13, C-terminal |
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 | IPR049424 | Intermembrane lipid transfer protein VPS13, C-terminal |
Family | IPR026847 | Vacuolar protein sorting-associated protein 13 |
Domain Details Per Protein
Protein | Length | Atg2/VPS13, C-terminal | Intermembrane lipid transfer protein VPS13, C-terminal | 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:A0A8M2BET3
|
3236 | ||||||||
UniProtKB:A0A8M3AVK3
|
3155 | ||||||||
UniProtKB:A0A8M1NGM5
|
3194 | ||||||||
UniProtKB:A0A8M3B2B4
|
3209 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
vps13a-201
(1)
|
Ensembl | 10,224 nt |
Interactions and Pathways
No data available
Plasmids
No data available