Version 5.4
Homo sapiens Protein: VPS13A
Summary
InnateDB Protein IDBP-72190.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol VPS13A
Protein Name vacuolar protein sorting 13 homolog A (S. cerevisiae)
Synonyms CHAC; CHOREIN;
Species Homo sapiens
Ensembl Protein ENSP00000365823
InnateDB Gene IDBG-72184 (VPS13A)
Protein Structure
UniProt Annotation
Function May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane.
Subcellular Localization
Disease Associations Choreoacanthocytosis (CHAC) [MIM:200150]: An autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self-mutilation. {ECO:0000269PubMed:11381253, ECO:0000269PubMed:12404112}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. Higher expression is found in brain, heart, skeletal muscle and kidney.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006895 Golgi to endosome transport
GO:0008104 protein localization
GO:0008219 cell death
GO:0015031 protein transport
Cellular Component
GO:0005622 intracellular
Protein Structure and Domains
PDB ID
InterPro IPR009543 Vacuolar protein sorting-associated protein 13 domain
IPR015412 Autophagy-related, C-terminal
PFAM PF06650
PF09333
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96RL7
PhosphoSite PhosphoSite-Q96RL7
TrEMBL
UniProt Splice Variant
Entrez Gene 23230
UniGene Hs.731962
RefSeq NP_001018047
HUGO HGNC:1908
OMIM 605978
CCDS CCDS55321
HPRD 05814
IMGT
EMBL AB023203 AB054005 AF337532 AJ608769 AJ626859 AK022967 AL158159 AL353710 AL359204 BC020576 BC041852
GenPept AAH20576 AAH41852 AAK61861 BAA76830 BAB14337 BAB59128 CAE75581 CAF25186 CAH74105 CAH74106 CAI39537 CAI39538 CAI40935 CAI40936

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca