“PCBD1”的意思、由来-开放百科全书

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]

References

1. ^{{cite journal | vauthors = Milatovich A, Mendel DB, Crabtree GR, Francke U | title = Genes for the dimerization cofactor of hepatocyte nuclear factor-1 alpha (DCOH) are on human and murine chromosomes 10 | journal = Genomics | volume = 16 | issue = 1 | pages = 292–5 | date = Apr 1993 | pmid = 8486378 | pmc = | doi = 10.1006/geno.1993.1182 }}
2. ^¹{{cite web | title = Entrez Gene: PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5092| accessdate = }}
3. ^{{cite journal | vauthors = Lim S, Jin K, Friedman E | title = Mirk protein kinase is activated by MKK3 and functions as a transcriptional activator of HNF1alpha | journal = The Journal of Biological Chemistry | volume = 277 | issue = 28 | pages = 25040–6 | date = Jul 2002 | pmid = 11980910 | doi = 10.1074/jbc.M203257200 }}
4. ^{{cite journal | vauthors = Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D | title = Large-scale mapping of human protein-protein interactions by mass spectrometry | journal = Molecular Systems Biology | volume = 3 | issue = 1 | pages = 89 | year = 2007 | pmid = 17353931 | pmc = 1847948 | doi = 10.1038/msb4100134 }}
5. ^{{cite journal | vauthors = Sourdive DJ, Transy C, Garbay S, Yaniv M | title = The bifunctional DCOH protein binds to HNF1 independently of its 4-alpha-carbinolamine dehydratase activity | journal = Nucleic Acids Research | volume = 25 | issue = 8 | pages = 1476–84 | date = Apr 1997 | pmid = 9092652 | pmc = 146627 | doi = 10.1093/nar/25.8.1476 }}

Further reading

{{cite journal | vauthors = Hansen LP, Crabtree GR | title = Regulation of the HNF-1 homeodomain proteins by DCoH | journal = Current Opinion in Genetics & Development | volume = 3 | issue = 2 | pages = 246–53 | date = Apr 1993 | pmid = 8504250 | doi = 10.1016/0959-437X(93)90030-S }}

{{cite journal | vauthors = Suck D, Ficner R | title = Structure and function of PCD/DCoH, an enzyme with regulatory properties | journal = FEBS Letters | volume = 389 | issue = 1 | pages = 35–9 | date = Jun 1996 | pmid = 8682201 | doi = 10.1016/0014-5793(96)00573-X }}

{{cite journal | vauthors = Thöny B, Auerbach G, Blau N | title = Tetrahydrobiopterin biosynthesis, regeneration and functions | journal = The Biochemical Journal | volume = 347 Pt 1 | issue = 1 | pages = 1–16 | date = Apr 2000 | pmid = 10727395 | pmc = 1220924 | doi = 10.1042/0264-6021:3470001 }}

{{cite journal | vauthors = Mendel DB, Khavari PA, Conley PB, Graves MK, Hansen LP, Admon A, Crabtree GR | title = Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein | journal = Science | volume = 254 | issue = 5039 | pages = 1762–7 | date = Dec 1991 | pmid = 1763325 | doi = 10.1126/science.1763325 }}

{{cite journal | vauthors = Thöny B, Neuheiser F, Blau N, Heizmann CW | title = Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha | journal = Biochemical and Biophysical Research Communications | volume = 210 | issue = 3 | pages = 966–73 | date = May 1995 | pmid = 7763270 | doi = 10.1006/bbrc.1995.1751 }}

{{cite journal | vauthors = Thöny B, Heizmann CW, Mattei MG | title = 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 | journal = Genomics | volume = 19 | issue = 2 | pages = 365–8 | date = Jan 1994 | pmid = 8188266 | doi = 10.1006/geno.1994.1071 }}

{{cite journal | vauthors = Citron BA, Kaufman S, Milstien S, Naylor EW, Greene CL, Davis MD | title = Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism | journal = American Journal of Human Genetics | volume = 53 | issue = 3 | pages = 768–74 | date = Sep 1993 | pmid = 8352282 | pmc = 1682436 | doi = }}

{{cite journal | vauthors = Hauer CR, Rebrin I, Thöny B, Neuheiser F, Curtius HC, Hunziker P, Blau N, Ghisla S, Heizmann CW | title = Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence | journal = The Journal of Biological Chemistry | volume = 268 | issue = 7 | pages = 4828–31 | date = Mar 1993 | pmid = 8444860 | doi = }}

{{cite journal | vauthors = Johnen G, Kowlessur D, Citron BA, Kaufman S | title = Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 92 | issue = 26 | pages = 12384–8 | date = Dec 1995 | pmid = 8618906 | pmc = 40362 | doi = 10.1073/pnas.92.26.12384 }}

{{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Research | volume = 6 | issue = 9 | pages = 791–806 | date = Sep 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 }}

{{cite journal | vauthors = Sourdive DJ, Transy C, Garbay S, Yaniv M | title = The bifunctional DCOH protein binds to HNF1 independently of its 4-alpha-carbinolamine dehydratase activity | journal = Nucleic Acids Research | volume = 25 | issue = 8 | pages = 1476–84 | date = Apr 1997 | pmid = 9092652 | pmc = 146627 | doi = 10.1093/nar/25.8.1476 }}

{{cite journal | vauthors = Johnen G, Kaufman S | title = Studies on the enzymatic and transcriptional activity of the dimerization cofactor for hepatocyte nuclear factor 1 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 94 | issue = 25 | pages = 13469–74 | date = Dec 1997 | pmid = 9391049 | pmc = 28329 | doi = 10.1073/pnas.94.25.13469 }}

{{cite journal | vauthors = Thöny B, Neuheiser F, Kierat L, Blaskovics M, Arn PH, Ferreira P, Rebrin I, Ayling J, Blau N | title = 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) | journal = American Journal of Human Genetics | volume = 62 | issue = 6 | pages = 1302–11 | date = Jun 1998 | pmid = 9585615 | pmc = 1377166 | doi = 10.1086/301887 }}

{{cite journal | vauthors = Thöny B, Neuheiser F, Kierat L, Rolland MO, Guibaud P, Schlüter T, Germann R, Heidenreich RA, Duran M, de Klerk JB, Ayling JE, Blau N | title = Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia | journal = Human Genetics | volume = 103 | issue = 2 | pages = 162–7 | date = Aug 1998 | pmid = 9760199 | doi = 10.1007/s004390050800 }}

{{cite journal | vauthors = Lei XD, Kaufman S | title = Characterization of expression of the gene for human pterin carbinolamine dehydratase/dimerization cofactor of HNF1 | journal = DNA and Cell Biology | volume = 18 | issue = 3 | pages = 243–52 | date = Mar 1999 | pmid = 10098606 | doi = 10.1089/104454999315466 }}

{{cite journal | vauthors = Waters PJ, Scriver CR, Parniak MA | title = Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia | journal = Molecular Genetics and Metabolism | volume = 73 | issue = 3 | pages = 230–8 | date = Jul 2001 | pmid = 11461190 | doi = 10.1006/mgme.2001.3198 }}

Function

Interactions

References

Further reading