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Gene Review

SFXN1  -  sideroflexin 1

Homo sapiens

Synonyms: FLJ12876, Sideroflexin-1, TCC, Tricarboxylate carrier protein
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Disease relevance of SFXN1

  • PATIENTS AND METHODS: p53, p21, and pRb expression was examined immunohistochemically on archival radical cystectomy samples from 164 patients with invasive or high-grade recurrent superficial transitional cell carcinoma (TCC; lymph node-negative, 117 patients; lymph node-positive, 47 patients) [1].
  • In this study, we evaluated whether the anti-VEGFR monoclonal antibody (Mab) DC101 in combination with paclitaxel inhibited tumorigenesis, angiogenesis, and metastasis of human TCC growing within the bladder of athymic nude mice [2].
  • We have determined the solution structure of a TCC-loop hairpin in the cruciform promoter for the bacteriophage N4 virion RNA polymerase (N4 vRNAP) [3].
  • In the present study, we compared deletions in squamous cell carcinoma of the head and neck (SCCHN) cell lines to those in T-cell acute lymphatic leukemia (T-ALL), glioma, and bladder carcinoma (TCC) cell lines [4].
  • The surface proteins of seven human cell lines (three bladder carcinomas (TCC), two normal urothelial lines, one colon carcinoma, and one malignant melanoma) were labelled with 125I by the glucose oxidase-lactoperoxidase technique [5].

Psychiatry related information on SFXN1

  • Reaction time (RT) for TAC and TCC trials was equal in the control group [6].
  • In nondemented amnesics, disorientation mostly reflects a failure to select memories that pertain to ongoing reality (increased temporal context confusion; TCC), a failure strongly associated with orbitofrontal damage [7].
  • However, although it correlated moderately well with general measures of dementia severity, verbal episodic memory and executive functioning, there was no significant correlation with TCC [7].
  • MATERIALS AND METHODS: 43 patients (28 male, 15 female; mean age 65.5 years, range 21-82) with T1G3 TCC (transitional cell carcinoma) bladder tumour underwent transurethral resection and subsequent intravesical BCG according to Morales protocol, in the period 1993-1998 at our institution [8].

High impact information on SFXN1

  • The alpha I/50a defect was associated in different individuals with two separate single base changes in exon 6: CTG to CCG (leucine to proline) encoding residue 254, and TCC to CCC (serine to proline) encoding residue 255 [9].
  • The calcium ionophore, A23187, resulted in a significant stimulation only at 1 mumol/L (basal 0.28% +/- 0.7% TCC vs. 2.2% +/- 0.5% total cell content, P less than 0.05) [10].
  • The phorbol ester, phorbol 12 myristate 13-acetate, caused a concentration-dependent increase in immunoreactive somatostatin secretion with a 1-mumol/L concentration resulting in a 40-fold stimulation (basal 0.28% +/- 0.7% total cell content vs. 13.8% +/- 2.2% TCC, P less than 0.005) [10].
  • V (GTC) to A (GCC) at codon 138 in exon 4, P (CCC) to S (TCC) at codon 151 in exon 5, and P (CCC) to L (CTC) at codon 151 in exon 5 [11].
  • It is a small wonder that 10 of the 16 leucine residues were encoded by CTG, whereas none was encoded by CTA, and that 17 of the 23 serine residues were encoded either by TCT or by TCC, whereas only 1 was encoded by TCG [12].

Chemical compound and disease context of SFXN1


Biological context of SFXN1

  • A point mutation (C to T transition at nucleotide position 19,297) that results in coding for serine (TCC) in place of proline (CCC) at amino acid position 343 was found [18].
  • Therefore, loss of chromosome 9 may be one of the primary genetic events in TCC oncogenesis, with secondary events, such as tetraploidization, correlated to tumor progression [19].
  • Supportive evidence for the relevance of this sequence was obtained from gel mobility shift assays and by transfection of TCC mutation constructs [20].
  • A single missense mutation, Ser53 (TCC) to Phe53 (TTC was identified in exon II of the proband's alpha 1AT gene [21].
  • LOH analysis suggests that multiple tumor suppressor genes play a role in the development of human TCC [22].

Anatomical context of SFXN1

  • To examine these possibilities, the CwBL18 and Cw5 genes from the TCC (HLA-A1, -A2, -B52, -B18, -Cw-, -Cw-) and QBL (HLA-A26, -B18, -Cw5) EBV-transformed B lymphoblastoid cell lines (LCL) were cloned, sequenced, and transferred into HLA-A, -B, -C null LCL mutant .221 cells [23].
  • The TERE1 transcript (1.5 and 3.5 kb) is present in most normal human tissues including urothelium, but was reduced or absent in the majority of muscle invasive TCC tumors (22 out of 29 cases) [24].
  • We then screened for PTCH mutations in 'hot spot' exons 6, 8, 13 and 16 by PCR/SSCP analysis of genomic DNAs from 54 TCC tumor samples and control autologous peripheral blood lymphocytes [22].
  • Unstimulated CD4+ TCC from patients with AIDS showed enhanced helper function for IgG synthesis in vitro in both autologous and normal allogeneic B cells in comparison to clonable CD4+ T cells of normal donors [25].
  • BACKGROUND: Transitional cell carcinoma of the bladder (TCC) is the second most common malignancy of the urinary tract [26].

Associations of SFXN1 with chemical compounds

  • Furthermore, three copies of the 12-bp synthetic alpha2(I) collagen promoter fragment containing the "TCC" motif conferred OSM inducibility to the otherwise unresponsive thymidine kinase promoter [27].
  • MAPK-dependent promoter activities and bromodeoxyuridine incorporation decreased in UEC upon withdrawal of growth factors, but less so in TCC lines, in which serum diminution increased apoptosis [28].
  • Of the three subpopulations in the patient, distinguished by a tyrosine (TAC), aspartic acid (GAC), or serine (TCC) at the 215 position of RT, the relative fitness of the GAC variant was calculated to be 10 to 25% higher than the initial TAC variant, and the relative fitness of the TCC variant was 1% higher than that of the GAC variant [29].
  • TCL and TCC generated with Api g 1 cross-reacted with the birch pollen allergen and, although initially stimulated with the food allergen, cellular responses to Bet v 1 were stronger than to Api g 1 [30].
  • The Bb levels were significantly correlated with C3 activation products (C3bc; r= .72, P=.002), terminal SC5b-9 complement complex (TCC; r=.89, P<.001), and plasma lipopolysaccharides (LPS; r=.69, P= .01) [31].

Analytical, diagnostic and therapeutic context of SFXN1

  • Sequence analysis following amplification of each exon and its flanking regions showed a single T to C transition in exon 14, which changed a Ser572 codon (TCC) to Pro572 codon (CCC) [32].
  • RESULTS: The distribution of alleles of the TCC repeat was similar between diabetic and control groups [33].
  • Only one TCC (6%) demonstrated nuclear accumulation of p53 protein by immunohistochemistry [34].
  • For seven of the TCC target cell cultures (two long-term and five short-term) autologous lymphocytes were also available for testing [35].
  • However, the present data suggest improved TCC survival in patients with an INR> 1.00 [13].


  1. Combined effects of p53, p21, and pRb expression in the progression of bladder transitional cell carcinoma. Chatterjee, S.J., Datar, R., Youssefzadeh, D., George, B., Goebell, P.J., Stein, J.P., Young, L., Shi, S.R., Gee, C., Groshen, S., Skinner, D.G., Cote, R.J. J. Clin. Oncol. (2004) [Pubmed]
  2. Treatment of human metastatic transitional cell carcinoma of the bladder in a murine model with the anti-vascular endothelial growth factor receptor monoclonal antibody DC101 and paclitaxel. Inoue, K., Slaton, J.W., Davis, D.W., Hicklin, D.J., McConkey, D.J., Karashima, T., Radinsky, R., Dinney, C.P. Clin. Cancer Res. (2000) [Pubmed]
  3. Stable formation of a pyrimidine-rich loop hairpin in a cruciform promoter. Chou, S.H., Tseng, Y.Y., Chu, B.Y. J. Mol. Biol. (1999) [Pubmed]
  4. Homozygous deletions of CDKN2A caused by alternative mechanisms in various human cancer cell lines. Raschke, S., Balz, V., Efferth, T., Schulz, W.A., Florl, A.R. Genes Chromosomes Cancer (2005) [Pubmed]
  5. Plasma membrane-associated antigens on tumor cells derived from transitional-cell carcinoma of the human urinary bladder. II. Identification at the molecular level of plasma membrane-associated antigens. Schneider, M.U., Paulie, S., Troye, M., Perlmann, P. Int. J. Cancer (1980) [Pubmed]
  6. Deficits in the endogenous redirection of covert visual attention in chronic schizophrenia. Maruff, P., Pantelis, C., Danckert, J., Smith, D., Currie, J. Neuropsychologia. (1996) [Pubmed]
  7. Mechanism of disorientation in Alzheimer's disease. Joray, S., Herrmann, F., Mulligan, R., Schnider, A. Eur. Neurol. (2004) [Pubmed]
  8. The management of T1G3 bladder cancer. Bogdanović, J., Marusić, G., Djozić, J., Sekulić, V., Budakov, P., Dejanović, N., Stojkov, J. Urologia internationalis. (2002) [Pubmed]
  9. Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis. Sahr, K.E., Tobe, T., Scarpa, A., Laughinghouse, K., Marchesi, S.L., Agre, P., Linnenbach, A.J., Marchesi, V.T., Forget, B.G. J. Clin. Invest. (1989) [Pubmed]
  10. Release of somatostatin immunoreactivity from human antral D cells in culture. Buchan, A.M., Curtis, S.B., Meloche, R.M. Gastroenterology (1990) [Pubmed]
  11. Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency. Tomatsu, S., Fukuda, S., Yamagishi, A., Cooper, A., Wraith, J.F., Hori, T., Kato, Z., Yamada, N., Isogai, K., Sukegawa, K., Kondo, N., Suzuki, Y., Shimozawa, N., Orii, T. Am. J. Hum. Genet. (1996) [Pubmed]
  12. Codon preference is but an illusion created by the construction principle of coding sequences. Ohno, S. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  13. A randomized trial of minidose warfarin for the prevention of late malfunction in tunneled, cuffed hemodialysis catheters. Mokrzycki, M.H., Jean-Jerome, K., Rush, H., Zdunek, M.P., Rosenberg, S.O. Kidney Int. (2001) [Pubmed]
  14. Chemosensitization of bladder cancer cell lines by human telomerase reverse transcriptase antisense treatment. Kraemer, K., Fuessel, S., Kotzsch, M., Ning, S., Schmidt, U., Wirth, M.P., Meye, A. J. Urol. (2004) [Pubmed]
  15. Bacillus Calmette-Guerin abrogates in vitro invasion and motility of human bladder tumor cells via fibronectin interaction. Garden, R.J., Liu, B.C., Redwood, S.M., Weiss, R.E., Droller, M.J. J. Urol. (1992) [Pubmed]
  16. The growth and histological characteristics of a series of human bladder cancer xenografts. Hay, J.H., Busuttil, A., Steel, C.M., Duncan, W. Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology. (1986) [Pubmed]
  17. Effect of continuous hemodiafiltration on IL-6, TNF-alpha, C3a, and TCC in patients with SIRS/septic shock using two different membranes. Braun, N., Rosenfeld, S., Giolai, M., Banzhaf, W., Fretschner, R., Warth, H., Weinstock, C., Deppisch, R., Erley, C.M., Müller, G.A. Contributions to nephrology. (1995) [Pubmed]
  18. Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343. James, H.L., Girolami, A., Fair, D.S. Blood (1991) [Pubmed]
  19. Numerical chromosome 1, 7, 9, and 11 aberrations in bladder cancer detected by in situ hybridization. Hopman, A.H., Moesker, O., Smeets, A.W., Pauwels, R.P., Vooijs, G.P., Ramaekers, F.C. Cancer Res. (1991) [Pubmed]
  20. Cloning and characterization of the promoter region of the rat epidermal growth factor receptor gene and its transcriptional regulation by nerve growth factor in PC12 cells. Liu, X.W., Katagiri, Y., Jiang, H., Gong, L.J., Guo, L.Y., Shibutani, M., Johnson, A.C., Guroff, G. J. Biol. Chem. (2000) [Pubmed]
  21. Siiyama (serine 53 (TCC) to phenylalanine 53 (TTC)). A new alpha 1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone. Seyama, K., Nukiwa, T., Takabe, K., Takahashi, H., Miyake, K., Kira, S. J. Biol. Chem. (1991) [Pubmed]
  22. PTCH gene mutations in invasive transitional cell carcinoma of the bladder. McGarvey, T.W., Maruta, Y., Tomaszewski, J.E., Linnenbach, A.J., Malkowicz, S.B. Oncogene (1998) [Pubmed]
  23. Sequence and gene transfer analyses of HLA-CwBL18 (HLA-C blank) and HLA-Cw5 genes. Implications for the control of expression and immunogenicity of HLA-C antigens. Tibensky, D., DeMars, R., Holowachuk, E.W., Delovitch, T.L. J. Immunol. (1989) [Pubmed]
  24. Isolation and characterization of the TERE1 gene, a gene down-regulated in transitional cell carcinoma of the bladder. McGarvey, T.W., Nguyen, T., Tomaszewski, J.E., Monson, F.C., Malkowicz, S.B. Oncogene (2001) [Pubmed]
  25. Reduced production of interleukin 2 and interferon-gamma and enhanced helper activity for IgG synthesis by cloned CD4+ T cells from patients with AIDS. Maggi, E., Macchia, D., Parronchi, P., Mazzetti, M., Ravina, A., Milo, D., Romagnani, S. Eur. J. Immunol. (1987) [Pubmed]
  26. Current concepts in biomarker technology for bladder cancers. Burchardt, M., Burchardt, T., Shabsigh, A., De La Taille, A., Benson, M.C., Sawczuk, I. Clin. Chem. (2000) [Pubmed]
  27. Oncostatin M stimulates transcription of the human alpha2(I) collagen gene via the Sp1/Sp3-binding site. Ihn, H., LeRoy, E.C., Trojanowska, M. J. Biol. Chem. (1997) [Pubmed]
  28. Activities of MAP-kinase pathways in normal uroepithelial cells and urothelial carcinoma cell lines. Swiatkowski, S., Seifert, H.H., Steinhoff, C., Prior, A., Thievessen, I., Schliess, F., Schulz, W.A. Exp. Cell Res. (2003) [Pubmed]
  29. Broad spectrum of in vivo fitness of human immunodeficiency virus type 1 subpopulations differing at reverse transcriptase codons 41 and 215. Goudsmit, J., de Ronde, A., de Rooij, E., de Boer, R. J. Virol. (1997) [Pubmed]
  30. Bet v 1, the major birch pollen allergen, initiates sensitization to Api g 1, the major allergen in celery: evidence at the T cell level. Bohle, B., Radakovics, A., Jahn-Schmid, B., Hoffmann-Sommergruber, K., Fischer, G.F., Ebner, C. Eur. J. Immunol. (2003) [Pubmed]
  31. The excessive complement activation in fulminant meningococcal septicemia is predominantly caused by alternative pathway activation. Brandtzaeg, P., Høgåsen, K., Kierulf, P., Mollnes, T.E. J. Infect. Dis. (1996) [Pubmed]
  32. Congenital plasminogen deficiency caused by a Ser572 to Pro mutation. Azuma, H., Uno, Y., Shigekiyo, T., Saito, S. Blood (1993) [Pubmed]
  33. Identification of missense mutations in the hepatocyte nuclear factor-3beta gene in Japanese subjects with late-onset Type II diabetes mellitus. Zhu, Q., Yamagata, K., Yu, L., Tomura, H., Yamada, S., Yang, Q., Yoshiuchi, I., Sumi, S., Miyagawa, J., Takeda, J., Hanafusa, T., Matsuzawa, Y. Diabetologia (2000) [Pubmed]
  34. Carcinogenicity of dimethylarsinic acid in male F344 rats and genetic alterations in induced urinary bladder tumors. Wei, M., Wanibuchi, H., Morimura, K., Iwai, S., Yoshida, K., Endo, G., Nakae, D., Fukushima, S. Carcinogenesis (2002) [Pubmed]
  35. Cytotoxicity in vitro of blood lymphocytes from bladder cancer patients and controls to allogeneic or autologous tumor cells derived from established cell lines or short-term cultures. Troye, M., Vilien, M., Pape, G.R., Perlmann, P. Int. J. Cancer (1980) [Pubmed]
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