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PCBD1  -  pterin-4 alpha-carbinolamine...

Homo sapiens

Synonyms: 4-alpha-hydroxy-tetrahydropterin dehydratase, DCOH, DCoH, Dimerization cofactor of HNF1, Dimerization cofactor of hepatocyte nuclear factor 1-alpha, ...
 
 
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Disease relevance of PCBD1

  • The Mirk-binding protein DCoH has been shown to be selectively expressed in colon carcinomas but not in normal tissue [1].
  • Whereas only 4 of 25 benign nevi reacted with DCoH/PCD-specific antibodies, high protein levels were detectable in melanoma cell lines and 13 of 15 primary malignant melanoma lesions [2].
  • In addition to human colon cancer, this is the second report about the overexpression of DCoH/PCD in human tumor cells indicating that the protein might be involved in cancerogenesis [2].
  • We investigated colorectal tumors and colorectal tumor cell lines as compared to normal colon samples in search of a potential differential expression of PCD/DCoH [3].
  • Dimer stabilization in hepatoma cells is mediated by a heat-labile association with an 11kD polypeptide, analogous to the DCoH cofactor identified in rat liver by Mendel et al [4].
 

Psychiatry related information on PCBD1

  • Factor analysis of the MOS-HIV identified two factors (Mental Health Summary scores and Physical Health Summary scores, or MHS and PHS), accounting for 63% total variance [5].
  • The purpose of this study was to determine the ability of this VF confirmation algorithm to recognize nonsustained VT, and to analyze the reasons for failure of the PCD device to abort shock therapy for nonsustained VT despite use of this VF confirmation algorithm [6].
  • Data from this assessment was employed to facilitate an evidence-based approach to decision-making regarding conversion to electronic documentation at local and PHS levels [7].
  • CONCLUSIONS: PCD is a chronic condition which has a progressively greater impact on health in the second half of life, producing significant morbidity and restriction of life style [8].
 

High impact information on PCBD1

  • A dimerization cofactor of HNF-1 alpha (DCoH) was identified that displayed a restricted tissue distribution and did not bind to DNA, but, rather, selectively stabilized HNF-1 alpha dimers [9].
  • However, DCoH did not confer transcriptional activation to the GAL4 DNA binding domain [9].
  • Regulation of the HNF-1 homeodomain proteins by DCoH [10].
  • The first identified example of such an accessory protein is DCoH, which confers transcriptional activity to the hepatocyte nuclear factor 1 and provides a model of how other accessory factors might modulate the function of homeodomain proteins [10].
  • The histogram of neurite length of PC12 cells showed distinctive patterns on PCD that were absent on the controls [11].
 

Chemical compound and disease context of PCBD1

 

Biological context of PCBD1

  • DCoHm (dimerization cofactor of hepatocyte nuclear factor 1alpha ( HNF1alpha) from muscle), a novel gene of the DCoH family with 78% amino acid identity to DCoH, was identified as a Mirk-binding protein by yeast two-hybrid analysis and cloned [1].
  • The amino acid sequences of human and rat PHS/PCD were found to be identical [17].
  • Genes for the dimerization cofactor of hepatocyte nuclear factor-1 alpha (DCOH) are on human and murine chromosomes 10 [18].
  • The PTS gene was mapped to the chromosomal region 11q22.3-q23.3, and the PCD/DCOH gene was mapped to the 10q22 band of the genome [19].
  • Using this cDNA as a probe, we isolated and determined the complete nucleotide sequence and flanking regions of the single human PCBD gene [20].
 

Anatomical context of PCBD1

 

Associations of PCBD1 with chemical compounds

 

Physical interactions of PCBD1

 

Other interactions of PCBD1

  • In situ and in vitro evidence for DCoH/HNF-1 alpha transcription of tyrosinase in human skin melanocytes [21].
  • We have also used this technique to demonstrate homomeric interactions between wild-type DHPR subunits and between wild-type PCD subunits [27].
  • These were 92bp upstream of SLC3A1, 52bp upstream of PCBD (DCOH), and 42202bp upstream of TCF2(HNF1-beta) [28].
  • Dysfunction of DCoH/PCD is associated with the human disorders hyperphenylalaninemia and vitiligo [2].
 

Analytical, diagnostic and therapeutic context of PCBD1

References

  1. Mirk protein kinase is activated by MKK3 and functions as a transcriptional activator of HNF1alpha. Lim, S., Jin, K., Friedman, E. J. Biol. Chem. (2002) [Pubmed]
  2. Dimerization co-factor of hepatocyte nuclear factor 1/pterin-4alpha-carbinolamine dehydratase is necessary for pigmentation in Xenopus and overexpressed in primary human melanoma lesions. von Strandmann, E.P., Senkel, S., Ryffel, G., Hengge, U.R. Am. J. Pathol. (2001) [Pubmed]
  3. Overexpression of pterin-4a-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 in human colon cancer. Eskinazi, R., Thöny, B., Svoboda, M., Robberecht, P., Dassesse, D., Heizmann, C.W., Van Laethem, J.L., Resibois, A. Am. J. Pathol. (1999) [Pubmed]
  4. Trans-dominant inhibition of transcription activator LFB1. Nicosia, A., Tafi, R., Monaci, P. Nucleic Acids Res. (1992) [Pubmed]
  5. Validation of a Chinese version of the Medical Outcomes Study HIV Health Survey (MOS-HIV) among Chinese people living with HIV/AIDS in Hong Kong. Lau, J.T., Tsui, H.Y., Patrick, L.C., Rita, C.W., Molassiotis, A. Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation. (2006) [Pubmed]
  6. Failure of third-generation implantable cardioverter defibrillators to abort shock therapy for nonsustained ventricular tachycardia due to shortcomings of the VF confirmation algorithm. Grimm, W., Menz, V., Hoffmann, J., Maisch, B. Pacing and clinical electrophysiology : PACE. (1998) [Pubmed]
  7. A Systematic Approach to Baseline Assessment of Nursing Documentation and Enterprise-wide Prioritization for Electronic Conversion. Dykes, P.C., Spurr, C., Gallagher, J., Li, Q., Ives Erickson, J. Studies in health technology and informatics (2006) [Pubmed]
  8. Primary ciliary dyskinesia (Siewert's/Kartagener's syndrome): respiratory symptoms and psycho-social impact. McManus, I.C., Mitchison, H.M., Chung, E.M., Stubbings, G.F., Martin, N. BMC pulmonary medicine [electronic resource]. (2003) [Pubmed]
  9. Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein. Mendel, D.B., Khavari, P.A., Conley, P.B., Graves, M.K., Hansen, L.P., Admon, A., Crabtree, G.R. Science (1991) [Pubmed]
  10. Regulation of the HNF-1 homeodomain proteins by DCoH. Hansen, L.P., Crabtree, G.R. Curr. Opin. Genet. Dev. (1993) [Pubmed]
  11. A neuroinductive biomaterial based on dopamine. Gao, J., Kim, Y.M., Coe, H., Zern, B., Sheppard, B., Wang, Y. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  12. Membrane modifications in human erythroleukemia K562 cells during induction of programmed cell death by transforming growth factor beta 1 or cisplatin. Maccarrone, M., Nieuwenhuizen, W.E., Dullens, H.F., Catani, M.V., Melino, G., Veldink, G.A., Vliegenthart, J.F., Finazzo Agrò, A. Eur. J. Biochem. (1996) [Pubmed]
  13. The early phase of apoptosis in human neuroblastoma CHP100 cells is characterized by lipoxygenase-dependent ultraweak light emission. Maccarrone, M., Salucci, M.L., Melino, G., Rosato, N., Finazzi-Agro, A. Biochem. Biophys. Res. Commun. (1999) [Pubmed]
  14. Tumor necrosis factor-alpha levels decrease with anticytokine therapy in patients with myelodysplastic syndromes. Reza, S., Shetty, V., Dar, S., Qawi, H., Raza, A. J. Interferon Cytokine Res. (1998) [Pubmed]
  15. A randomized comparison of cyclophosphamide, DTIC with or without piperazinedione in metastatic malignant melanoma. Presant, C.A., Bartolucci, A.A., Balch, C., Troner, M. Cancer (1982) [Pubmed]
  16. Plasma cell dyscrasia in 105 Japanese patients with systemic amyloidosis. Isobe, T., Tomita, M., Matsumoto, J., Fujita, T. Jpn. J. Med. (1983) [Pubmed]
  17. Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence. Hauer, C.R., Rebrin, I., Thöny, B., Neuheiser, F., Curtius, H.C., Hunziker, P., Blau, N., Ghisla, S., Heizmann, C.W. J. Biol. Chem. (1993) [Pubmed]
  18. Genes for the dimerization cofactor of hepatocyte nuclear factor-1 alpha (DCOH) are on human and murine chromosomes 10. Milatovich, A., Mendel, D.B., Crabtree, G.R., Francke, U. Genomics (1993) [Pubmed]
  19. Chromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4 alpha-carbinolamine dehydratase maps to 10q22. Thöny, B., Heizmann, C.W., Mattei, M.G. Genomics (1994) [Pubmed]
  20. Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha. Thöny, B., Neuheiser, F., Blau, N., Heizmann, C.W. Biochem. Biophys. Res. Commun. (1995) [Pubmed]
  21. In situ and in vitro evidence for DCoH/HNF-1 alpha transcription of tyrosinase in human skin melanocytes. Schallreuter, K.U., Kothari, S., Hasse, S., Kauser, S., Lindsey, N.J., Gibbons, N.C., Hibberts, N., Wood, J.M. Biochem. Biophys. Res. Commun. (2003) [Pubmed]
  22. Characterization of expression of the gene for human pterin carbinolamine dehydratase/dimerization cofactor of HNF1. Lei, X.D., Kaufman, S. DNA Cell Biol. (1999) [Pubmed]
  23. Human white blood cells and hair follicles are good sources of mRNA for the pterin carbinolamine dehydratase/dimerization cofactor of HNF1 for mutation detection. Lei, X.D., Kaufman, S. Biochem. Biophys. Res. Commun. (1998) [Pubmed]
  24. Structure and function of PCD/DCoH, an enzyme with regulatory properties. Suck, D., Ficner, R. FEBS Lett. (1996) [Pubmed]
  25. Structure of the conserved transcriptional repressor enhancer of rudimentary homolog. Wan, C., Tempel, W., Liu, Z.J., Wang, B.C., Rose, R.B. Biochemistry (2005) [Pubmed]
  26. Hyperphenylalaninemia and impaired glucose tolerance in mice lacking the bifunctional DCoH gene. Bayle, J.H., Randazzo, F., Johnen, G., Kaufman, S., Nagy, A., Rossant, J., Crabtree, G.R. J. Biol. Chem. (2002) [Pubmed]
  27. Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia. Waters, P.J., Scriver, C.R., Parniak, M.A. Mol. Genet. Metab. (2001) [Pubmed]
  28. In silico searching of human and mouse genome data identifies known and unknown HNF1 binding sites upstream of beta-cell genes. Lockwood, C.R., Bingham, C., Frayling, T.M. Mol. Genet. Metab. (2003) [Pubmed]
  29. In vivo and in vitro evidence for autocrine DCoH/HNF-1alpha transcription of albumin in the human epidermis. Hasse, S., Kothari, S., Rokos, H., Kauser, S., Schürer, N.Y., Schallreuter, K.U. Exp. Dermatol. (2005) [Pubmed]
  30. Studies on the enzymatic and transcriptional activity of the dimerization cofactor for hepatocyte nuclear factor 1. Johnen, G., Kaufman, S. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  31. Crystallization and preliminary crystallographic studies of recombinant dimerization cofactor of transcription factor HNF1/pterin-4 alpha-carbinolamine dehydratase from liver. Ficner, R., Sauer, U.H., Ceska, T.A., Stier, G., Suck, D. FEBS Lett. (1995) [Pubmed]
  32. ERH (enhancer of rudimentary homologue), a conserved factor identical between frog and human, is a transcriptional repressor. Pogge von Strandmann, E., Senkel, S., Ryffel, G.U. Biol. Chem. (2001) [Pubmed]
 
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