Protein Domain : IPR030549

Type:  Family Name:  Torsin-1A
Description:  Torsin-1A belongs to the Torsin family. Torsin-1A inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics and is implicated in primary dystonia, an autosomal-dominant movement disorder [, ]. It interacts with lamina-associated polypeptide 1 (LAP1) in the nuclear envelope and lumenal domain like LAP1 (LULL1) in the endoplasmic reticulum [, ]. Torsin-1A does not display ATPase activity in isolation, its ATP hydrolysis function is induced upon association with LAP1 and LULL1 []. It may play an important role in protein folding or trafficking at the endoplasmic reticulum []. In humans, Torsin-1A is widely expressed and appears to have its most critical role in the central nervous system (CNS), where it is present at high levels during development []. It modulates synaptic vesicle recycling []. It is involved in several biological processes, such as nuclear envelope integrity, cytoskeleton organisation, nuclear polarity, chaperone functions and degradation of misfolded proteins [].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-1A
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0 Child Features

0 Contains

1 Cross References

Identifier
PTHR10760:SF13

0 Found In

12 GO Annotations

GO Term Gene Name
GO:0005524 IPR030549
GO:0008092 IPR030549
GO:0051082 IPR030549
GO:0006998 IPR030549
GO:0007155 IPR030549
GO:0031175 IPR030549
GO:0045104 IPR030549
GO:0048489 IPR030549
GO:0061077 IPR030549
GO:0072321 IPR030549
GO:0005635 IPR030549
GO:0005788 IPR030549

12 Ontology Annotations

GO Term Gene Name
GO:0005524 IPR030549
GO:0008092 IPR030549
GO:0051082 IPR030549
GO:0006998 IPR030549
GO:0007155 IPR030549
GO:0031175 IPR030549
GO:0045104 IPR030549
GO:0048489 IPR030549
GO:0061077 IPR030549
GO:0072321 IPR030549
GO:0005635 IPR030549
GO:0005788 IPR030549

1 Parent Features

DB identifier Type Name
IPR017378 Family Torsin 1/2

0 Proteins

10 Publications

First Author Title Year Journal Volume Pages PubMed ID
            9927482
            25352667
            23569223
            15767459
            20861018
            19339278
            20169475
            22611399
            16361107
            18167355