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vacuolar protein sorting-associated protein 13A; chorein; chorea-acanthocytosis protein (VPS13A, CHAC, KIAA0986)
Function:
- may play a role in the control of protein cycling through the trans-Golgi network to early & late endosomes, lysosomes & plasma membrane
Structure:
- belongs to the VPS13 family
- contains 10 TPR repeats
Alternative splicing:
- named isoforms=4
Expression:
- widely expressed
- higher expression is found in brain, heart, skeletal muscle & kidney
Pathology:
- defects in VPS13A are the cause of chorea-acanthocytosis
General
phosphoprotein
Properties
SIZE: entity length = 3174 aa
MW = 360 kD
MOTIF: tetratricopeptide repeat {212-245}
tetratricopeptide repeat {373-406}
tetratricopeptide repeat {537-575}
tetratricopeptide repeat {1256-1289}
tetratricopeptide repeat {1291-1320}
tetratricopeptide repeat {2009-2041}
Tyr phosphorylation site {Y2240}
tetratricopeptide repeat {2568-2601}
tetratricopeptide repeat {2717-2751}
tetratricopeptide repeat {2860-2898}
tetratricopeptide repeat {3086-3119}
Database Correlations
OMIM correlations
UniProt Q96RL7
Pfam PF06650
Entrez Gene 23230
Kegg hsa:23230
References
- UniProt :accession Q96RL7
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/VPS13A
- Rampoldi L et al
A conserved sorting-associated protein is mutant in chorea-
acanthocytosis.
Nat Genet. 2001 Jun;28(2):119-20.
PMID: 11381253
- Ueno S et al
The gene encoding a newly discovered protein, chorein, is
mutated in chorea-acanthocytosis.
Nat Genet. 2001 Jun;28(2):121-2.
PMID: 11381254