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
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With vps13d Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive spinocerebellar ataxia 4 Alliance Spinocerebellar ataxia, autosomal recessive 4 607317
Associated With vps13d Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000772 Ricin B, lectin domain
Domain IPR009543 Vacuolar protein sorting-associated protein 13, SHR-binding domain
Domain IPR015940 Ubiquitin-associated domain
Domain IPR026854 Vacuolar protein sorting-associated protein 13-like, N-terminal domain
Domain IPR031642 VPS13, repeated coiled region
Domain IPR031645 Vacuolar protein sorting-associated protein 13, C-terminal
Domain IPR031646 Vacuolar protein sorting-associated protein 13, second N-terminal domain
Domain IPR041969 Vacuolar protein sorting-associated protein 13D, UBA domain
Family IPR026847 Vacuolar protein sorting-associated protein 13
Homologous_superfamily IPR009060 UBA-like superfamily
Domain Details Per Protein
Protein Length Ricin B, lectin domain UBA-like superfamily Ubiquitin-associated domain Vacuolar protein sorting-associated protein 13 Vacuolar protein sorting-associated protein 13, C-terminal Vacuolar protein sorting-associated protein 13D, UBA domain Vacuolar protein sorting-associated protein 13-like, N-terminal domain Vacuolar protein sorting-associated protein 13, second N-terminal domain Vacuolar protein sorting-associated protein 13, SHR-binding domain VPS13, repeated coiled region
UniProtKB:E9QH42 2099
UniProtKB:F1QAQ5 2233
UniProtKB:E7F307 3956
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations