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Gene Review

Tor1b  -  torsin family 1, member B

Mus musculus

Synonyms: 2610016F05Rik, DQ1, Torsin ATPase-1B, Torsin family 1 member B, Torsin-1B, ...
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Disease relevance of Tor1b

  • These data suggest that gene interaction between DQ1 and DQ2 (or alleles at associated loci), possibly from gene complementation of trans-associated surface molecules, influences the autoimmune response in primary Sjögren's syndrome [1].

High impact information on Tor1b

  • An analysis of all possible combinations at DQ has shown that the entire effect was due to heterozygotes expressing the DQ1 and DQ2 alleles [1].
  • Overexpression of both wild-type torsinB and mutant torsinA lead to enrichment of the protein in the nuclear envelope and formation of large cytoplasmic inclusions [2].
  • TOR1A and its homologue TOR1B (alias DQ1) are located adjacent to each other on human chromosome 9q34 [3].
  • Thus, torsinA expression was highest in the cerebral cortex from embryonic day 15 (E15)-E17 and in the striatum from E17-P7, while torsinB was highest in the cerebral cortex between P7-P14 and in the striatum from P7-P30 [4].
  • Three of the mAbs, 13B6, 17F8 and 19A1, bound to all DQ1, 4, 8 or 9 positive B-lymphoblastoid cell lines (B-LCLs) and transfectants tested, i.e. cells carrying the DQB1 genes 0302-3, 0401-2, 0501-3, 0601-4 and 0609 irrespective of the accompanying DQA1 gene [5].

Biological context of Tor1b

  • The genes in each locus are transcribed but only those designated DQ1 express class II molecules at the surface of mouse L cells following DNA-mediated gene transfection [6].

Anatomical context of Tor1b


Other interactions of Tor1b

  • In Western blot analysis of mouse brain homogenates, the antibodies specifically recognized 33 kDa endogenous torsinA and 52 kDa endogenous torsinB [7].


  1. Gene interaction at HLA-DQ enhances autoantibody production in primary Sjögren's syndrome. Harley, J.B., Reichlin, M., Arnett, F.C., Alexander, E.L., Bias, W.B., Provost, T.T. Science (1986) [Pubmed]
  2. TorsinB--perinuclear location and association with torsinA. Hewett, J.W., Kamm, C., Boston, H., Beauchamp, R., Naismith, T., Ozelius, L., Hanson, P.I., Breakefield, X.O., Ramesh, V. J. Neurochem. (2004) [Pubmed]
  3. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Ozelius, L.J., Page, C.E., Klein, C., Hewett, J.W., Mineta, M., Leung, J., Shalish, C., Bressman, S.B., de Leon, D., Brin, M.F., Fahn, S., Corey, D.P., Breakefield, X.O. Genomics (1999) [Pubmed]
  4. Developmental patterns of torsinA and torsinB expression. Vasudevan, A., Breakefield, X.O., Bhide, P.G. Brain Res. (2006) [Pubmed]
  5. Characterization and epitope mapping of four HLA class II reactive mouse monoclonal antibodies using transfected L cells and human cells transfected with mutants of DQB1*0302. Viken, H.D., Thorsby, E., Gaudernack, G. Tissue Antigens (1995) [Pubmed]
  6. Mapping and characterization of the DQ subregion of the ovine MHC. Wright, H., Ballingall, K.T. Anim. Genet. (1994) [Pubmed]
  7. Immunocytochemical characterization of torsin proteins in mouse brain. Konakova, M., Pulst, S.M. Brain Res. (2001) [Pubmed]
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