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
Expression
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
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With vps13a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
choreaacanthocytosis Alliance Choreoacanthocytosis 200150
Associated With vps13a Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA vps13a-201 (1) Ensembl 10,224 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations