InterPro domain: IPR044994
General Information
- Identifier IPR044994
- Description Tubulin-specific chaperone E
- Number of genes 491
- Gene duplication stats Loading...
- Associated GO terms GO:0043014 GO:0006457
Abstract
Tubulin proteostasis is regulated by a group of molecular chaperones termed tubulin cofactors (TBC). This entry represents TBCE (tubulin-specific chaperone E), which is an alpha-tubulin binding protein that, together with Arl2 and cofactors D (TBCD), A (TBCA or p14), B (TBCB) and C (TBCC), participate in tubulin biogenesis [ 1 ]. TBCE contains an N-terminal cytoskeleton-associated protein with glycine-rich segment (CAP-Gly) domain, a leucine-rich repeat protein-protein interaction domain followed by leucine-rich repeat (LRR) domains, and a C-terminal ubiquitin-like (Ubl) domain [ 2 ].
Mutations in TBCE gene cause the Kenny-Caffey/Sanjad-Sakati syndrome, characterised by hypoparathyroidism, mental retardation and facial dysmorphism [ 3 ].
1. Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation. Exp. Cell Res. 313, 425-36
2. The structure of the complex between ?-tubulin, TBCE and TBCB reveals a tubulin dimer dissociation mechanism. J. Cell. Sci. 128, 1824-34
3. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat. Genet. 32, 448-52