Protein Domain : Torsin-1A-interacting protein 1/2, AAA+ activator domain IPR046753

Type  Domain
Description  This entry represents the C-terminal AAA+ activator domain of Torsin-1A-interacting proteins 1 and 2 (TOIP1/2) also known as LAP1 proteins (Lamina-associated polypeptide 1), which are type 2 integral membrane proteins with a single membrane-spanning region of the inner nuclear membrane [ , , ]. These proteins interact with and activate Torsin A, an AAA+ ATPase localized to the endoplasmic reticulum (ER), through a perinuclear domain and forms a heterohexameric (LAP1-Torsin)3 ring that targets Torsin to the nuclear envelope. LAP1 has an atypical AAA+ fold and provides an arginine finger to the Torsin A active site to promote its ATPase activity [, ]. A single mutation in Torsin A causes early onset primary dystonia, a painful and severely disabling neuromuscular disease [, ].
Short Name  TOIP1/2_C

0 Child Features

0 Gene Families

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1 Ontology Annotations

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