|  Help  |  About  |  Contact Us

Search our database by keyword

- or -

Examples

  • Search this entire website. Enter identifiers, names or keywords for genes, diseases, strains, ontology terms, etc. (e.g. Pax6, Parkinson, ataxia)
  • Use OR to search for either of two terms (e.g. OR mus) or quotation marks to search for phrases (e.g. "dna binding").
  • Boolean search syntax is supported: e.g. Balb* for partial matches or mus AND NOT embryo to exclude a term

Search results 1 to 2 out of 2 for Tbce

Category restricted to ProteinDomain (x)

0.008s

Categories

Category: ProteinDomain
Type Details Score
Protein Domain
Type: Family
Description: 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 []. 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 [].Mutations in TBCE gene cause the Kenny-Caffey/Sanjad-Sakati syndrome, characterised by hypoparathyroidism, mental retardation and facial dysmorphism [].
Protein Domain
Type: Domain
Description: Tubulin proteostasis is regulated by a group of molecular chaperones termed tubulin cofactors (TBC). This entry represents TBCE (tubulin-specific chaperone E), which is involved in the second step of the tubulin folding pathway through cooperating in tubulin heterodimer dissociation both in vivo and in vitro. It may also be implicated in the maintenance of the neuronal microtubule network []. Mutations in TBCE gene cause hypoparathyroidism, mental retardation and facial dysmorphism []. 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 []. This entry represents the Ubl domain.