Javascript is not enabled on this browser. This site will not work properly without Javascript.
PhosphoSitePlus Homepage Cell Signaling Technology
HomeAbout PhosphoSiteUsing PhosphoSiteprivacy & cookiesCuration ProcessContact
logos LINCs Logo Mt Sinai Logo NIH Logo NCI Logo
Protein Page:
VPS13A (human)

VPS13A May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane. Defects in VPS13A are the cause of chorea-acanthocytosis (CHAC); 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. Belongs to the VPS13 family. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Chromosomal Location of Human Ortholog: 9q21
Cellular Component: extrinsic to membrane; intracellular
Biological Process: autophagy; protein retention in Golgi; protein targeting to vacuole
Disease: Choreoacanthocytosis
Reference #:  Q96RL7 (UniProtKB)
Alt. Names/Synonyms: CHAC; Chorea-acanthocytosis protein; Chorein; FLJ42030; KIAA0986; vacuolar protein sorting 13 homolog A (S. cerevisiae); vacuolar protein sorting 13A; Vacuolar protein sorting-associated protein 13A; VP13A; VPS13A
Gene Symbols: VPS13A
Molecular weight: 360,276 Da
Basal Isoelectric point: 5.94  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Scansite  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein