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TBC1D1  -  TBC1 (tre-2/USP6, BUB2, cdc16) domain...

Homo sapiens

Synonyms: KIAA1108, TBC, TBC1, TBC1 domain family member 1
 
 
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Disease relevance of TBC1D1

 

High impact information on TBC1D1

  • CHS patients were deficient in overall maximum NK capacity, but had normal percentages of potentially cytotoxic target bindng cells. the relative number of TBC that could kill bound targets (i.e., "active" NK cells) was significantly depressed in CHS patients when compared with normal controls [5].
  • Here, we present evidence that genetic variation in TBC1D1 confers risk for severe obesity in females [1].
  • Finally, although the function of TBC1D1 is unknown, the protein is structurally similar to a known regulator of insulin-mediated Glut4 translocation [1].
  • These studies identify TRE17 as a novel regulator of the Arf6-regulated plasma membrane recycling system and reveal an unexpected function for TBC domains [6].
  • While approximately 50 TBC proteins are predicted to exist in humans, little is known about their substrate specificity [6].
 

Chemical compound and disease context of TBC1D1

 

Biological context of TBC1D1

 

Anatomical context of TBC1D1

  • As such, peptide TBC 772 effectively inhibits the activation of freshly isolated human T lymphocytes stimulated with purified vascular cell adhesion molecule-1 coimmobilized with anti-CD3 mAb [11].
  • In an attempt to improve upon these dismal results, we treated seven PCNSL patients with HD-MTX-based induction therapy followed by thiotepa, busulfan, cyclophosphamide (TBC), and autologous stem cell transplant (ASCT), without WBRT [12].
  • Reliable susceptibility results and identification of TBC can be completed in a median of 12 days (range 8 to 16d) with LRP applied to sputum samples [13].
  • In the first part of the study we compared gene expression of marrow stroma cells (MSC) in comparison to matured osteoblasts cultured from trabecular bone (TBC) that were analyzed by RT-PCR for series of messages [14].
  • We assessed in detail the technical requirements and steps for transfemoral treatment of experimentally induced aneurysms at the top of the brachiocephalic trunk (TBC) in rabbits [15].
 

Associations of TBC1D1 with chemical compounds

  • The glutamine from the Rab GTPase does not stabilize the transition state as expected but instead interacts with the TBC domain [10].
  • Similarity searches of databases revealed that the tbc1 and tbc2 genes showed significant homology to multicomponent cresol and phenol hydroxylases and to toluene and benzene monooxygenases, respectively [16].
  • There was no significant change in the creatinine clearance or TBC with repeated treatment [17].
  • Cocaine pretreatment significantly increased cocaine bioavailability, absorption rate constant, TBC, and the formation clearance of cocaethylene [18].
  • In addition, TBC is influenced by the temperature-dependent hepatic metabolism of fentanyl [19].
 

Physical interactions of TBC1D1

  • These methods allowed us to identify EPI64, previously characterized as an EBP50-binding protein that contains an orphan TBC domain, as a specific Rab27A-GAP [20].
 

Other interactions of TBC1D1

  • TBC1D1 is the founding member of a family of related proteins with homology to tre-2/UPS6, BUB2, and cdc16 and containing the tbc box motif of 180-220 amino acids [9].
  • It has recently been proposed that the TBC (Tre2/Bub2/Cdc16) domain functions as a GAP (GTPase-activating protein) domain for small GTPase Rab [21].
  • The chromosome number of TBC-1 cells ranged from 17 to 84, with a modal number of 54; whereas that of TPC-1 cells ranged from 28 to 139, with a modal number of 49 [22].
  • The complete amino acid sequences of tulip bulb chitinase-1 and -2 (TBC-1 and -2) were determined [23].
 

Analytical, diagnostic and therapeutic context of TBC1D1

  • The techniques used were: total body calcium by neutron activation analysis (TBC), single photon absorptiometry (SPA), dual photon absorptiometry (DPA), and quantitative computed tomography (QCT) [24].
  • Several techniques are now available for quantitation of bone mass, including total body calcium by neutron activation analysis (TBC), single and dual photon absorptiometry at the radius and spine, respectively (SPA and DPA), quantitative computed tomography of the spine (QCT), and cancellous bone volume from iliac crest bone biopsies [25].
  • To determine whether deletion analysis could accurately differentiate members of TBC, we used PCR to assess the presence or absence of specific regions of the genome in 88 well-characterized isolates of M. tuberculosis, M. africanum, M. microti, M. bovis, and M. bovis BCG [26].
  • Although the virulences and host ranges differ among members of the Mycobacterium tuberculosis complex (TBC; M. tuberculosis, M. africanum, M. canettii, M. microti, M. bovis, and M. bovis BCG), commercially available molecular assays cannot differentiate these organisms because of the genetic identities of their 16S rRNA gene sequences [26].
  • Two of the seven patients received TBC/ASCT as the only treatment after disease progression following their initial chemotherapy and both remain relapse-free at the time of this report, 22 and 31 months post-TBC/ASCT [12].

References

  1. TBC1D1 is a candidate for a severe obesity gene and evidence for a gene/gene interaction in obesity predisposition. Stone, S., Abkevich, V., Russell, D.L., Riley, R., Timms, K., Tran, T., Trem, D., Frank, D., Jammulapati, S., Neff, C.D., Iliev, D., Gress, R., He, G., Frech, G.C., Adams, T.D., Skolnick, M.H., Lanchbury, J.S., Gutin, A., Hunt, S.C., Shattuck, D. Hum. Mol. Genet. (2006) [Pubmed]
  2. Thiotepa, busulfan, and cyclophosphamide: a new preparative regimen for autologous marrow or blood stem cell transplantation in high-risk multiple myeloma. Dimopoulos, M.A., Alexanian, R., Przepiorka, D., Hester, J., Andersson, B., Giralt, S., Mehra, R., van Besien, K., Delasalle, K.B., Reading, C. Blood (1993) [Pubmed]
  3. Impact of preexisting CNS involvement on the outcome of bone marrow transplantation in adult hematologic malignancies. van Besien, K., Przepiorka, D., Mehra, R., Giralt, S., Khouri, I., Gajewski, J., Andersson, B., Champlin, R. J. Clin. Oncol. (1996) [Pubmed]
  4. PCR-enzyme-linked immunosorbent assay and partial rRNA gene sequencing: a rational approach to identifying mycobacteria. Patel, S., Yates, M., Saunders, N.A. J. Clin. Microbiol. (1997) [Pubmed]
  5. Deficiency of active natural killer cells in the Chediak-Higashi syndrome. Localization of the defect using a single cell cytotoxicity assay. Katz, P., Zaytoun, A.M., Fauci, A.S. J. Clin. Invest. (1982) [Pubmed]
  6. The TBC (Tre-2/Bub2/Cdc16) domain protein TRE17 regulates plasma membrane-endosomal trafficking through activation of Arf6. Martinu, L., Masuda-Robens, J.M., Robertson, S.E., Santy, L.C., Casanova, J.E., Chou, M.M. Mol. Cell. Biol. (2004) [Pubmed]
  7. Thiotepa, busulfan, cyclophosphamide (TBC) and autologous hematopoietic transplantation: an intensive regimen for the treatment of multiple myeloma. Shimoni, A., Smith, T.L., Aleman, A., Weber, D., Dimopoulos, M., Anderlini, P., Andersson, B., Claxton, D., Ueno, N.T., Khouri, I., Donato, M., Korbling, M., Alexanian, R., Champlin, R., Giralt, S. Bone Marrow Transplant. (2001) [Pubmed]
  8. Effect of prednison therapy on serum levels of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3), T3-binding capacity, basal TSH level and TSH response to thyreoliberin (TRH) in children. Słuszkiewicz, E. Exp. Clin. Endocrinol. (1985) [Pubmed]
  9. The gene encoding TBC1D1 with homology to the tre-2/USP6 oncogene, BUB2, and cdc16 maps to mouse chromosome 5 and human chromosome 4. White, R.A., Pasztor, L.M., Richardson, P.M., Zon, L.I. Cytogenet. Cell Genet. (2000) [Pubmed]
  10. TBC-domain GAPs for Rab GTPases accelerate GTP hydrolysis by a dual-finger mechanism. Pan, X., Eathiraj, S., Munson, M., Lambright, D.G. Nature (2006) [Pubmed]
  11. Regulation of human T lymphocyte coactivation with an alpha4 integrin antagonist peptide. McIntyre, B.W., Woodside, D.G., Caruso, D.A., Wooten, D.K., Simon, S.I., Neelamegham, S., Revelle, J.K., Vanderslice, P. J. Immunol. (1997) [Pubmed]
  12. High-dose thiotepa, busulfan, cyclophosphamide and ASCT without whole-brain radiotherapy for poor prognosis primary CNS lymphoma. Cheng, T., Forsyth, P., Chaudhry, A., Morris, D., Glück, S., Russell, J.A., Stewart, D.A. Bone Marrow Transplant. (2003) [Pubmed]
  13. Detection and drug-susceptibility testing of M. tuberculosis from sputum samples using luciferase reporter phage: comparison with the Mycobacteria Growth Indicator Tube (MGIT) system. Bardarov, S., Dou, H., Eisenach, K., Banaiee, N., Ya, S., Chan, J., Jacobs, W.R., Riska, P.F. Diagn. Microbiol. Infect. Dis. (2003) [Pubmed]
  14. Differential gene expression of cultured human osteoblasts. Shur, I., Lokiec, F., Bleiberg, I., Benayahu, D. J. Cell. Biochem. (2001) [Pubmed]
  15. Endovascular treatment of experimental aneurysms in rabbits using Guglielmi detachable coils -- a feasibility study. Möller-Hartmann, W., Krings, T., Hans, F.J., Thiex, R., Meetz, A., Stein, K., Dreeskamp, H., Gilsbach, J.M., Thron, A. Neuroradiology. (2002) [Pubmed]
  16. Genetic and functional analysis of the tbc operons for catabolism of alkyl- and chloroaromatic compounds in Burkholderia sp. strain JS150. Kahng, H.Y., Malinverni, J.C., Majko, M.M., Kukor, J.J. Appl. Environ. Microbiol. (2001) [Pubmed]
  17. Pharmacokinetics of platinum in cancer patients treated with carboplatin in combination with high-dose methotrexate. el-Yazigi, A., Amer, M., Martin, C.R. Pharm. Res. (1989) [Pubmed]
  18. Cocaine and alcohol interactions in the rat: effect of cocaine and alcohol pretreatments on cocaine pharmacokinetics and pharmacodynamics. Pan, W.J., Hedaya, M.A. Journal of pharmaceutical sciences. (1999) [Pubmed]
  19. The influence of hypothermia on the disposition of fentanyl--human and animal studies. Koren, G., Barker, C., Goresky, G., Bohn, D., Kent, G., Klein, J., MacLeod, S.M., Biggar, W.D. Eur. J. Clin. Pharmacol. (1987) [Pubmed]
  20. Identification of EPI64 as a GTPase-activating Protein Specific for Rab27A. Itoh, T., Fukuda, M. J. Biol. Chem. (2006) [Pubmed]
  21. Screening for target Rabs of TBC (Tre-2/Bub2/Cdc16) domain-containing proteins based on their Rab-binding activity. Itoh, T., Satoh, M., Kanno, E., Fukuda, M. Genes Cells (2006) [Pubmed]
  22. Establishment and characterization of two cell lines derived from human transitional cell carcinoma. Chang, J., Sui, Z., Ma, T., Ma, K., Zhang, X., Wang, J., Dong, K., Yao, Q. Chin. Med. J. (1995) [Pubmed]
  23. Complete amino acid sequences of chitinase-1 and -2 from bulbs of genus Tulipa. Yamagami, T., Ishiguro, M. Biosci. Biotechnol. Biochem. (1998) [Pubmed]
  24. Ability of four different techniques of measuring bone mass to diagnose vertebral fractures in postmenopausal women. Ott, S.M., Kilcoyne, R.F., Chesnut, C.H. J. Bone Miner. Res. (1987) [Pubmed]
  25. Comparisons among methods of measuring bone mass and relationship to severity of vertebral fractures in osteoporosis. Ott, S.M., Kilcoyne, R.F., Chesnut, C.H. J. Clin. Endocrinol. Metab. (1988) [Pubmed]
  26. Rapid and simple approach for identification of Mycobacterium tuberculosis complex isolates by PCR-based genomic deletion analysis. Parsons, L.M., Brosch, R., Cole, S.T., Somoskövi, A., Loder, A., Bretzel, G., Van Soolingen, D., Hale, Y.M., Salfinger, M. J. Clin. Microbiol. (2002) [Pubmed]
 
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