Sequence Detail

ID/Version

Q9ER39 (UniProt | EBI)

Last sequence update: 2001-03-01
Last annotation update: 2025-06-18

Sequence description from provider

RecName: Full=Torsin-1A;AltName: Full=Dystonia 1 protein;AltName: Full=Torsin ATPase 1; EC=3.6.4.-;AltName: Full=Torsin family 1 member A;Flags: Precursor;

Provider

SWISS-PROT

Sequence

Polypeptide 333 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Tor1a	torsin family 1, member A (torsin A)	125	115	4	23

Sequence references in MGI

J:107596 Goodchild RE, et al., Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron. 2005 Dec 22;48(6):923-32
J:121865 Esapa CT, et al., SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Hum Mol Genet. 2007 Feb 1;16(3):327-42
J:140957 Nery FC, et al., TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton. J Cell Sci. 2008 Oct 15;121(Pt 20):3476-86
J:153167 Giles LM, et al., Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis. J Biol Chem. 2009 Aug 7;284(32):21765-75
J:157110 Jungwirth M, et al., Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA. Hum Mol Genet. 2010 Mar 1;19(5):888-900
J:160544 Kim CE, et al., A molecular mechanism underlying the neural-specific defect in torsinA mutant mice. Proc Natl Acad Sci U S A. 2010 May 25;107(21):9861-6
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89