Type: | Family | Name: | Torsin-1B |
Description: | Torsin-1B belongs to the Torsin family. Torsin-1B may play a role in non-neural cells nuclear envelope and endoplasmic reticulum integrity []. In humans it is highly expressed in the lung, placenta and testis, with low levels in the brain []. Torsin-1B associates with Torsin-1A and have a similar distribution in nonneuronal cells [, ].Torsin family members are membrane-associated ATPases belonging to the AAA+ (ATPase associated with a variety of cellular activities) superfamily of ATPases. The AAA+ ATPases typically form oligomeric rings obtaining energy from ATP hydrolysis and acting as chaperone-like modules [, ]. However, torsins lack conserved catalytic residues typically found in related ATPases and do not display ATPase activity unless they are engaged by their regulatory cofactors lamina-associated polypeptide 1 (LAP1) or luminal domain-like LAP1 (LULL1) [], which are type II transmembrane proteins located in the nuclear envelope and endoplasmic reticulum (ER) []. LAP1 and LULL1 integrate into the Torsin ring to produce the biologically active ATPase machine []. | Short Name: | Torsin-1B |