PCBD1
From Wikipedia, the free encyclopedia
Pterin-4-alpha-carbinolamine dehydratase is an enzyme that in humans is encoded by the PCBD1 gene.[1][2]
This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. A deficiency of this enzyme leads to hyperphenylalaninemia. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1).[2]
Interactions
PCBD1 has been shown to interact with DYRK1B[3] and HNF1A.[4][5]
References
- ↑ Milatovich A, Mendel DB, Crabtree GR, Francke U (Jun 1993). "Genes for the dimerization cofactor of hepatocyte nuclear factor-1 alpha (DCOH) are on human and murine chromosomes 10". Genomics 16 (1): 292–5. doi:10.1006/geno.1993.1182. PMID 8486378.
- ↑ 2.0 2.1 "Entrez Gene: PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)".
- ↑ Lim, Seunghwan; Jin Kideok, Friedman Eileen (Jul 2002). "Mirk protein kinase is activated by MKK3 and functions as a transcriptional activator of HNF1alpha". J. Biol. Chem. (United States) 277 (28): 25040–6. doi:10.1074/jbc.M203257200. ISSN 0021-9258. PMID 11980910.
- ↑ Ewing, Rob M; Chu Peter, Elisma Fred, Li Hongyan, Taylor Paul, Climie Shane, McBroom-Cerajewski Linda, Robinson Mark D, O'Connor Liam, Li Michael, Taylor Rod, Dharsee Moyez, Ho Yuen, Heilbut Adrian, Moore Lynda, Zhang Shudong, Ornatsky Olga, Bukhman Yury V, Ethier Martin, Sheng Yinglun, Vasilescu Julian, Abu-Farha Mohamed, Lambert Jean-Philippe, Duewel Henry S, Stewart Ian I, Kuehl Bonnie, Hogue Kelly, Colwill Karen, Gladwish Katharine, Muskat Brenda, Kinach Robert, Adams Sally-Lin, Moran Michael F, Morin Gregg B, Topaloglou Thodoros, Figeys Daniel (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. (England) 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
- ↑ Sourdive, D J; Transy C, Garbay S, Yaniv M (Apr 1997). "The bifunctional DCOH protein binds to HNF1 independently of its 4-alpha-carbinolamine dehydratase activity". Nucleic Acids Res. (ENGLAND) 25 (8): 1476–84. doi:10.1093/nar/25.8.1476. ISSN 0305-1048. PMC 146627. PMID 9092652.
Further reading
- Hansen LP, Crabtree GR (1993). "Regulation of the HNF-1 homeodomain proteins by DCoH". Curr. Opin. Genet. Dev. 3 (2): 246–53. doi:10.1016/0959-437X(93)90030-S. PMID 8504250.
- Suck D, Ficner R (1996). "Structure and function of PCD/DCoH, an enzyme with regulatory properties". FEBS Lett. 389 (1): 35–9. doi:10.1016/0014-5793(96)00573-X. PMID 8682201.
- Thöny B, Auerbach G, Blau N (2000). "Tetrahydrobiopterin biosynthesis, regeneration and functions". Biochem. J. 347 (1): 1–16. doi:10.1042/0264-6021:3470001. PMC 1220924. PMID 10727395.
- Mendel DB; Khavari PA; Conley PB et al. (1992). "Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein". Science 254 (5039): 1762–7. doi:10.1126/science.1763325. PMID 1763325.
- Thöny B, Neuheiser F, Blau N, Heizmann CW (1995). "Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha". Biochem. Biophys. Res. Commun. 210 (3): 966–73. doi:10.1006/bbrc.1995.1751. PMID 7763270.
- Thöny B, Heizmann CW, Mattei MG (1994). "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". Genomics 19 (2): 365–8. doi:10.1006/geno.1994.1071. PMID 8188266.
- Citron BA; Kaufman S; Milstien S et al. (1993). "Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism". Am. J. Hum. Genet. 53 (3): 768–74. PMC 1682436. PMID 8352282.
- Hauer CR; Rebrin I; Thöny B et al. (1993). "Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence". J. Biol. Chem. 268 (7): 4828–31. PMID 8444860.
- Johnen G, Kowlessur D, Citron BA, Kaufman S (1996). "Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia". Proc. Natl. Acad. Sci. U.S.A. 92 (26): 12384–8. doi:10.1073/pnas.92.26.12384. PMC 40362. PMID 8618906.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Sourdive DJ, Transy C, Garbay S, Yaniv M (1997). "The bifunctional DCOH protein binds to HNF1 independently of its 4-alpha-carbinolamine dehydratase activity". Nucleic Acids Res. 25 (8): 1476–84. doi:10.1093/nar/25.8.1476. PMC 146627. PMID 9092652.
- Johnen G, Kaufman S (1998). "Studies on the enzymatic and transcriptional activity of the dimerization cofactor for hepatocyte nuclear factor 1". Proc. Natl. Acad. Sci. U.S.A. 94 (25): 13469–74. doi:10.1073/pnas.94.25.13469. PMC 28329. PMID 9391049.
- Thöny B; Neuheiser F; Kierat L et al. (1998). "Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH)". Am. J. Hum. Genet. 62 (6): 1302–11. doi:10.1086/301887. PMC 1377166. PMID 9585615.
- Thöny B; Neuheiser F; Kierat L et al. (1998). "Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia". Hum. Genet. 103 (2): 162–7. doi:10.1007/s004390050800. PMID 9760199.
- Lei XD, Kaufman S (1999). "Characterization of expression of the gene for human pterin carbinolamine dehydratase/dimerization cofactor of HNF1". DNA Cell Biol. 18 (3): 243–52. doi:10.1089/104454999315466. PMID 10098606.
- Waters PJ, Scriver CR, Parniak MA (2001). "Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia". Mol. Genet. Metab. 73 (3): 230–8. doi:10.1006/mgme.2001.3198. PMID 11461190.
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