Protein Domain : IPR010448

Type:  Family Name:  Torsin
Description:  Torsins are membrane-associated ATPases. They belong to the AAA+ (ATPase associated with a variety of cellular activities) superfamily of ATPases, but they lack conserved catalytic residues typically found in related ATPases. Accordingly, Torsins 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 [].Torsion dystonia is an autosomal dominant movement disorder characterised by involuntary, repetitive muscle contractions and twisted postures. The most severe early-onset form of dystonia has been linked to mutations in the human DYT1 (TOR1A) gene encoding a protein termed torsinA. While causative genetic alterations have been identified, the function of torsin proteins and the molecular mechanism underlying dystonia remain unknown. It has been suggested that torsins play a role in effectively managing protein folding and that possible breakdown in a neuroprotective mechanism that is, in part, mediated by torsins may be responsible for the neuronal dysfunction associated with dystonia []. Short Name:  Torsin
Paste the following link

3 Child Features

DB identifier Type Name
IPR017378 Family Torsin 1/2
IPR030551 Family Torsin-4A
IPR030552 Family Torsin-3A

0 Contains

2 Cross Referencess

Identifier
PTHR10760
PF06309

0 Found In

1 GO Annotation

GO Term Gene Name
GO:0005524 IPR010448

1 Ontology Annotations

GO Term Gene Name
GO:0005524 IPR010448

1 Parent Features

DB identifier Type Name
IPR001270 Family ClpA/B family

6 Proteins

DB identifier UniProt Accession Secondary Identifier Organism Name Length
53770 C1N7N6 PAC:27343606 Micromonas pusilla CCMP1545 346  
62179 C1FHS2 PAC:27397696 Micromonas sp RCC299 493  
Dusal.0891s00003.1.p PAC:33198067 Dunaliella salina 462  
Cz04g24190.t1 PAC:38235628 Chromochloris zofingiensis 363  
MD12G1147900 PAC:40122218 Malus domestica 288  
Bobra.0044s0014.1.p PAC:40709542 Botryococcus braunii 340  

4 Publications

First Author Title Year Journal Volume Pages PubMed ID
            12554684
            25352667
            23569223
            15767459