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Gene Review

TOR1B  -  torsin family 1, member B (torsin B)

Homo sapiens

Synonyms: DQ1, FKSG18, MGC4386, Torsin ATPase-1B, Torsin family 1 member B, ...
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Disease relevance of TOR1B

  • Serologic and genetic associations have been found between anti-Ro and anti-La, rheumatoid factor, hypergammaglobulinemia, the histocompatibility alleles DQ1 and DQ2, and alleles of the T-cell receptor beta chain gene [1].
  • Human leukocyte antigen (HLA) typing of D-region antigens in 139 controls and 45 Graves' disease patients reveals significant differences for HLA-DR2, DR9, DQ1, and DQ3 [2].
  • RESULTS: Two antigens determined by serotyping, DR15 and DQ1, occurred at significantly increased frequency among HTLV-I carriers compared with seronegative control subjects (42% versus 22% for DR15 [odds ratio [OR] = 2.7; 95% confidence interval [CI] = 1.0-7.2] and 78% versus 53% for DQ1 [OR = 3.1; 95% CI = 1.2-8.5]) [3].
  • We previously reported preliminary results of association of clozapine-induced agranulocytosis (CA) with HLA-B38, DR4, DQ3 in five Ashkenazi Jewish patients and with HLA-DR2, DQ1 in four non-Jewish patients [4].
  • Peripheral blood mononuclear cells from an individual (HLA-DR2 [15], Dw52, DQ1 and DQ3) allergic to bee stings were used to generate cell lines specific for PLA2 and a control antigen, tetanus toxoid [5].

Psychiatry related information on TOR1B


High impact information on TOR1B

  • We speculate, therefore, that the DQ beta sequence represents the DQ1 specificity shared by the DR1 and DRw6 haplotypes [8].
  • Frequent CA-->GA mutations are also observed in DQ1-associated microsatellites with identical allele sizes [9].
  • Each of the peptides tested bound differentially to DQ alleles: TPO632-645 bound test to DQ2 molecules (DQA1*0501/DQB1*0201), lambda R12-24 bound best to DQ8 molecules (DQ3.2 or DQA1*0301/DQB1*0302), and AYK bound best to DQ1 (DQA*0102/DQB*0602) and DQ7 (DQ3.1 OR DQA1*0301/DQB1*0301) [10].
  • Most but not all subjects with the narcoleptic syndrome have the human leukocyte antigen (HLA) DR2 (and DQ1) [6].
  • One patient had the following human leukocyte antigens (HLAs): HLA-A24, 33; B44, 52; DQ1; and DR2, 6 antigens [11].

Biological context of TOR1B

  • This pairing anomaly may contribute to altered class II phenotypes in heterozygous individuals, and is reflected in the absence of either DQ1 alpha, DQ2 beta or DQ1 alpha, DQ3 beta haplotypes in the known human gene pool [12].
  • Previous serological analysis in this population had shown the presence of DQ2 in 95% of the patients (40% in controls) and a negative association with DQ1 haplotypes, suggesting the presence of other "permissive" or neutral alleles [13].
  • Whereas the functional DQ1 loci showed a series of DNA-protein contact points in the X and Y boxes, the promoters of the DQ2 pseudogenes displayed an unoccupied phenotype [14].
  • These pseudogenes are highly homologous to the functional DQ1 genes and they have no apparent abnormal features in their sequences that could prevent their activity [14].
  • In conclusion, if DQ1 plays a prominent role in kidney graft survival, the effects of its splits appear dissociated: DQ5 could be a marker of high antigenicity and DQ6 a marker of high responsiveness [15].

Anatomical context of TOR1B


Associations of TOR1B with chemical compounds

  • These studies show no significant deviations of HLA class I antigens, whereas the class II antigens do deviate: 50% of the Faroese MS patients carry the HLA-DR2 (DQ1/DRB 15) antigen, compared to a frequency of 15-20% among the control groups [17].

Other interactions of TOR1B

  • Restricted patterns of alpha/beta pairing were observed in which DQ2 beta and DQ3 beta molecules were unable to pair efficiently with DQ1 alpha chains [12].
  • Interestingly, DQ alleles with which these DR alleles are in linkage dysequilibrium, DQ1 and DQ2 and 3, were also associated with high and low IFN-gamma production, respectively [18].
  • In contrast, DQA1*0101, DRB3*0301, DR5 and DQ1 were significantly decreased with R.R. = 0.2, 0.2, 0.3 and 0.5 and Pc < 0.01, 0.05, 0.01 and 0.05, respectively [19].

Analytical, diagnostic and therapeutic context of TOR1B

  • In this study sequence analysis demonstrates that DQ1-associated DQCAR alleles have a single C-->A nucleotide substitution interrupting the CA repeat array [9].
  • According to serological tests, the most frequent DQ allele in the patients was DQ1, which was statistically increased when compared with controls (p = 0.0051) [20].
  • In the multivariate analysis, only DR2 and the combined presence of DQ1 and a positive histoplasmin skin test remained predictive of Type II disease [21].
  • From a panel of seven mouse monoclonal antibodies against human class II molecules only one, HL-37, directed against the beta chain of human DQ1 and DQ3 antigens cross-reacted in membrane immunofluorescence with the RT1b haplotype of the rat major histocompatibility complex [22].


  1. Anti-Ro in Sjögren's syndrome and systemic lupus erythematosus. Harley, J.B., Scofield, R.H., Reichlin, M. Rheum. Dis. Clin. North Am. (1992) [Pubmed]
  2. HLA-DQ3 is associated with Graves' disease in African-Americans. Ofosu, M.H., Dunston, G., Henry, L., Ware, D., Cheatham, W., Brembridge, A., Brown, C., Alarif, L. Immunol. Invest. (1996) [Pubmed]
  3. Human leukocyte antigen class II alleles associated with human T-cell lymphotropic virus type I infection and adult T-cell leukemia/lymphoma in a Black population. Manns, A., Hanchard, B., Morgan, O.S., Wilks, R., Cranston, B., Nam, J.M., Blank, M., Kuwayama, M., Yashiki, S., Fujiyoshi, T., Blattner, W., Sonoda, S. J. Natl. Cancer Inst. (1998) [Pubmed]
  4. HLA associations in clozapine-induced agranulocytosis. Yunis, J.J., Corzo, D., Salazar, M., Lieberman, J.A., Howard, A., Yunis, E.J. Blood (1995) [Pubmed]
  5. Mapping human T cell epitopes on phospholipase A2: the major bee-venom allergen. Dhillon, M., Roberts, C., Nunn, T., Kuo, M. J. Allergy Clin. Immunol. (1992) [Pubmed]
  6. Immune factors in narcolepsy. Langdon, N., Lock, C., Welsh, K., Vergani, D., Dorow, R., Wachtel, H., Palenschat, D., Parkes, J.D. Sleep. (1986) [Pubmed]
  7. Electrophysiological and immunogenetic findings in recurrent monosymptomatic-type hypersomnia: a study of two unrelated Italian cases. Manni, R., Martinetti, M., Ratti, M.T., Tartara, A. Acta neurologica Scandinavica. (1993) [Pubmed]
  8. DNA sequence and characterization of human class II major histocompatibility complex beta chains from the DR1 haplotype. Bell, J.I., Estess, P., St John, T., Saiki, R., Watling, D.L., Erlich, H.A., McDevitt, H.O. Proc. Natl. Acad. Sci. U.S.A. (1985) [Pubmed]
  9. The complex mutation pattern of a microsatellite. Macaubas, C., Jin, L., Hallmayer, J., Kimura, A., Mignot, E. Genome Res. (1997) [Pubmed]
  10. HLA-DQ polymorphisms are highly selective for peptide binding interactions. Kwok, W.W., Nepom, G.T., Raymond, F.C. J. Immunol. (1995) [Pubmed]
  11. Fisher syndrome after Campylobacter jejuni enteritis: human leukocyte antigen and the bacterial serotype. Yuki, N., Ichikawa, H., Doi, A. J. Pediatr. (1995) [Pubmed]
  12. A genetically controlled pairing anomaly between HLA-DQ alpha and HLA-DQ beta chains. Kwok, W.W., Thurtle, P., Nepom, G.T. J. Immunol. (1989) [Pubmed]
  13. Molecular characterization of HLA class II genes in celiac disease patients of Latin American Caucasian origin. Herrera, M., Theiler, G., Augustovski, F., Chertkoff, L., Fainboim, L., DeRosa, S., Cowan, E.P., Satz, M.L. Tissue Antigens (1994) [Pubmed]
  14. Absence of in vivo DNA-protein interactions in the DQA2 and DQB2 promoter regions. Indovina, P., Megiorni, F., Fontemaggi, G., Coni, P., Mora, B., Mazzilli, M.C. Hum. Immunol. (2001) [Pubmed]
  15. Detrimental role of donor-recipient HLA-DQ5 and -DQ6 disparities on cadaver kidney graft survival. Vereerstraeten, P., Andrien, M., Dupont, E., Abramowicz, D., de Pauw, L., Goldman, M., Kinnaert, P. Transpl. Int. (1992) [Pubmed]
  16. A human cytotoxic lymphocyte subdividing the DQ1 antigen. Fraser, J.D., Strominger, J.L. Immunogenetics (1987) [Pubmed]
  17. Multiple sclerosis in the Faroe Islands. VI. Studies of HLA markers. Jersild, C., Kurtzke, J.F., Riisom, K., Heltberg, A., Arbuckle, J., Hyllested, K. Tissue Antigens (1993) [Pubmed]
  18. HLA class II-associated polymorphism of interferon-gamma production. Implications for HLA-disease association. Petrovsky, N., Harrison, L.C. Hum. Immunol. (1997) [Pubmed]
  19. HLA class II polymorphism in Thai insulin-dependent diabetes mellitus. Sujirachato, K., Chiewsilp, P., Tsuji, K., Panyim, S., Inoko, H., Tuchinda, C., Vannasaeng, S. Tokai J. Exp. Clin. Med. (1994) [Pubmed]
  20. Immunogenetics of mixed connective tissue disease in a Mexican Mestizo population. Weckmann, A.L., Granados, J., Cardiel, M.H., Andrade, F., Vargas-Alarcón, G., Alcocer-Varela, J., Alarcón-Segovia, D. Clinical and experimental rheumatology. (1999) [Pubmed]
  21. Risk factors for choroidal neovascularization in young patients: a case-control study. Derosa, J.T., Yannuzzi, L.A., Marmor, M., Fotino, M., Sorenson, J.A., Spaide, R.F. Documenta ophthalmologica. Advances in ophthalmology. (1995) [Pubmed]
  22. HLA-DQ1 + DQ3-specific monoclonal antibody cross-reacts with a rat MHC-encoded polymorphic determinant. Otová, B., Stefanová, I., Horejsí, V., Nĕmec, M., Kren, V., Viklický, V. Folia Biol. (Praha) (1987) [Pubmed]
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