Torsin 1A (TOR1A)

DQ2; DYT1; TORA; Torsin A; Dystonia 1; Torsin ATPase-1A; Torsin family 1 member A

SPN	Q173
HGNC	3098
MGI	1353568
PubMed	19955557
UniProt	O14656
Wiki	Torsin_A

Torsin-1Ais related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1.

The deduced protein, termed 'torsinA' by them, comprises 332 amino acids and has a calculated molecular mass of 37,813 Da. It contains an ATP-binding domain and a putative N-terminal leader sequence. DYT1 has high homology to 3 additional mammalian genes and a nematode gene and distal similarity to the family of heat-shock proteins and the Clp protease family. Northern blot analysis detected 2 ubiquitously expressed transcripts of 1.8 kb and 2.2 kb and an additional low-abundance transcript of 5 kb in fetal brain, lung, and kidney, as well as in adult brain, heart, and pancreas.

Reference

"The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein."
Nat. Genet. 17:40-48(1997) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"DNA sequence and analysis of human chromosome 9."
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations."
J. Biol. Chem. 275:27933-27939(2000) [PubMed] [Europe PMC] [Abstract]

"Immunohistochemical localization and distribution of torsinA in normal human and rat brain."
Brain Res. 853:197-206(2000) [PubMed] [Europe PMC] [Abstract]

"TorsinB--perinuclear location and association with torsinA."
J. Neurochem. 89:1186-1194(2004) [PubMed] [Europe PMC] [Abstract]

"The early onset dystonia protein torsinA interacts with kinesin light chain 1."
J. Biol. Chem. 279:19882-19892(2004) [PubMed] [Europe PMC] [Abstract]

"Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant."
Proc. Natl. Acad. Sci. U.S.A. 101:15650-15655(2004) [PubMed] [Europe PMC] [Abstract]

"The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein."
J. Cell Biol. 168:855-862(2005) [PubMed] [Europe PMC] [Abstract]

"Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics."
Neurobiol. Dis. 22:98-111(2006) [PubMed] [Europe PMC] [Abstract]

"Biosynthesis of the dystonia-associated AAA+ ATPase torsinA at the endoplasmic reticulum."
Biochem. J. 401:607-612(2007) [PubMed] [Europe PMC] [Abstract]

"Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells."
Proc. Natl. Acad. Sci. U.S.A. 104:7271-7276(2007) [PubMed] [Europe PMC] [Abstract]

"The dystonia-associated protein torsinA modulates synaptic vesicle recycling."
J. Biol. Chem. 283:7568-7579(2008) [PubMed] [Europe PMC] [Abstract]

"TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton."
J. Cell Sci. 121:3476-3486(2008) [PubMed] [Europe PMC] [Abstract]

"Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis."
J. Biol. Chem. 284:21765-21775(2009) [PubMed] [Europe PMC] [Abstract]

"LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation."
Mol. Biol. Cell 20:2661-2672(2009) [PubMed] [Europe PMC] [Abstract]

"The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro."
Cell Stress Chaperones 15:605-617(2010) [PubMed] [Europe PMC] [Abstract]

"Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA."
Hum. Mol. Genet. 19:888-900(2010) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process."
EMBO J. 30:181-193(2011) [PubMed] [Europe PMC] [Abstract]

"Regulation of Torsin ATPases by LAP1 and LULL1."
Proc. Natl. Acad. Sci. U.S.A. 110:E1545-1554(2013) [PubMed] [Europe PMC] [Abstract]

"Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism."
Neurogenetics 3:133-143(2001) [PubMed] [Europe PMC] [Abstract]

"Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)."
J. Neurol. Neurosurg. Psych. 79:1327-1330(2008) [PubMed] [Europe PMC] [Abstract]

"Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia."
J. Med. Genet. 47:646-650(2010) [PubMed] [Europe PMC] [Abstract]