ID:VP13A_HUMAN DESCRIPTION: RecName: Full=Vacuolar protein sorting-associated protein 13A; AltName: Full=Chorea-acanthocytosis protein; AltName: Full=Chorein; 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. INTERACTION: P16333:NCK1; NbExp=3; IntAct=EBI-1752583, EBI-389883; TISSUE SPECIFICITY: Widely expressed. Higher expression is found in brain, heart, skeletal muscle and kidney. DISEASE: Defects in VPS13A are the cause of chorea-acanthocytosis (CHAC) [MIM:200150]; also known as Levine-Critchley syndrome. CHAC is 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. SIMILARITY: Belongs to the VPS13 family. SIMILARITY: Contains 10 TPR repeats. SEQUENCE CAUTION: Sequence=AAH20576.1; Type=Miscellaneous discrepancy; Note=Intron retention; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/VPS13A";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF06650 - SHR-binding domain of vacuolar-sorting associated protein 13 PF09333 - Autophagy-related protein C terminal domain PF12624 - N-terminal region of Chorein or VPS13 PF16908 - Vacuolar sorting-associated protein 13, N-terminal PF16909 - Vacuolar-sorting-associated 13 protein C-terminal PF16910 - Repeating coiled region of VPS13
ModBase Predicted Comparative 3D Structure on Q96RL7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
