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{{Infobox_gene}}
{{PBB_Controls
'''Pterin-4-alpha-carbinolamine dehydratase''' is an [[enzyme]] that in humans is encoded by the ''PCBD1'' [[gene]].<ref name="pmid8486378">{{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 }}</ref><ref name="entrez">{{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 = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_PCBD1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1dch.
| PDB = {{PDB2|1dch}}, {{PDB2|1dco}}, {{PDB2|1dcp}}, {{PDB2|1f93}}
| Name = Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)
| HGNCid = 8646
| Symbol = PCBD1
| AltSymbols =; PCD; PHS; DCOH; PCBD
| OMIM = 126090
| ECnumber = 
| Homologene = 57028
| MGIid = 94873
| GeneAtlas_image1 = PBB_GE_PCBD1_203557_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003713 |text = transcription coactivator activity}} {{GNF_GO|id=GO:0004505 |text = phenylalanine 4-monooxygenase activity}} {{GNF_GO|id=GO:0008124 |text = 4-alpha-hydroxytetrahydrobiopterin dehydratase activity}} {{GNF_GO|id=GO:0016829 |text = lyase activity}} {{GNF_GO|id=GO:0042802 |text = identical protein binding}}
| Component =
| Process = {{GNF_GO|id=GO:0006729 |text = tetrahydrobiopterin biosynthetic process}} {{GNF_GO|id=GO:0051289 |text = protein homotetramerization}} {{GNF_GO|id=GO:0051291 |text = protein heterooligomerization}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5092
    | Hs_Ensembl = ENSG00000166228
    | Hs_RefseqProtein = NP_000272
    | Hs_RefseqmRNA = NM_000281
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 10
    | Hs_GenLoc_start = 72313273
    | Hs_GenLoc_end = 72318547
    | Hs_Uniprot = P61457
    | Mm_EntrezGene = 13180
    | Mm_Ensembl = ENSMUSG00000020098
    | Mm_RefseqmRNA = NM_025273
    | Mm_RefseqProtein = NP_079549
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 10
    | Mm_GenLoc_start = 60487421
    | Mm_GenLoc_end = 60489262
    | Mm_Uniprot = P61458
  }}
}}
'''Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)''', also known as '''PCBD1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5092| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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).<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = 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).<ref name="entrez">{{cite web | title = Entrez Gene: PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5092| accessdate = }}</ref>
}}


==References==
== Interactions ==
{{reflist|2}}
 
==Further reading==
PCBD1 has been shown to [[Protein-protein interaction|interact]] with [[DYRK1B]]<ref name=pmid11980910>{{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 }}</ref> and [[HNF1A]].<ref name=pmid17353931>{{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 }}</ref><ref name=pmid9092652>{{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 }}</ref>
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_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 }}
| citations =
* {{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 | author=Hansen LP, Crabtree GR |title=Regulation of the HNF-1 homeodomain proteins by DCoH. |journal=Curr. Opin. Genet. Dev. |volume=3 |issue= 2 |pages= 246-53 |year= 1993 |pmid= 8504250 |doi= }}
* {{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 | author=Suck D, Ficner R |title=Structure and function of PCD/DCoH, an enzyme with regulatory properties. |journal=FEBS Lett. |volume=389 |issue= 1 |pages= 35-9 |year= 1996 |pmid= 8682201 |doi= }}
* {{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 | author=Thöny B, Auerbach G, Blau N |title=Tetrahydrobiopterin biosynthesis, regeneration and functions. |journal=Biochem. J. |volume=347 Pt 1 |issue= |pages= 1-16 |year= 2000 |pmid= 10727395 |doi= }}
* {{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 | author=Mendel DB, Khavari PA, Conley PB, ''et al.'' |title=Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein. |journal=Science |volume=254 |issue= 5039 |pages= 1762-7 |year= 1992 |pmid= 1763325 |doi= }}
* {{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 | author=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=Biochem. Biophys. Res. Commun. |volume=210 |issue= 3 |pages= 966-73 |year= 1995 |pmid= 7763270 |doi= 10.1006/bbrc.1995.1751 }}
* {{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 | author=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 |year= 1994 |pmid= 8188266 |doi= 10.1006/geno.1994.1071 }}
* {{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 | author=Citron BA, Kaufman S, Milstien S, ''et al.'' |title=Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. |journal=Am. J. Hum. Genet. |volume=53 |issue= 3 |pages= 768-74 |year= 1993 |pmid= 8352282 |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 | author=Hauer CR, Rebrin I, Thöny B, ''et al.'' |title=Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence. |journal=J. Biol. Chem. |volume=268 |issue= 7 |pages= 4828-31 |year= 1993 |pmid= 8444860 |doi=  }}
* {{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 | author=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 |year= 1993 |pmid= 8486378 |doi= 10.1006/geno.1993.1182 }}
* {{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  | author=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=Proc. Natl. Acad. Sci. U.S.A. |volume=92 |issue= 26 |pages= 12384-8 |year= 1996 |pmid= 8618906 |doi= }}
* {{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 | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi= }}
* {{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 | author=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 Res. |volume=25 |issue= 8 |pages= 1476-84 |year= 1997 |pmid= 9092652 |doi= }}
* {{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 | author=Johnen G, Kaufman S |title=Studies on the enzymatic and transcriptional activity of the dimerization cofactor for hepatocyte nuclear factor 1. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 25 |pages= 13469-74 |year= 1998 |pmid= 9391049 |doi= }}
* {{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 | author=Thöny B, Neuheiser F, Kierat L, ''et al.'' |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=Am. J. Hum. Genet. |volume=62 |issue= 6 |pages= 1302-11 |year= 1998 |pmid= 9585615 |doi= }}
* {{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 }}
*{{cite journal | author=Thöny B, Neuheiser F, Kierat L, ''et al.'' |title=Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. |journal=Hum. Genet. |volume=103 |issue= 2 |pages= 162-7 |year= 1998 |pmid= 9760199 |doi= }}
*{{cite journal | author=Lei XD, Kaufman S |title=Characterization of expression of the gene for human pterin carbinolamine dehydratase/dimerization cofactor of HNF1. |journal=DNA Cell Biol. |volume=18 |issue= 3 |pages= 243-52 |year= 1999 |pmid= 10098606 |doi= 10.1089/104454999315466 }}
*{{cite journal | author=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=Mol. Genet. Metab. |volume=73 |issue= 3 |pages= 230-8 |year= 2001 |pmid= 11461190 |doi= 10.1006/mgme.2001.3198 }}
}}
{{refend}}
{{refend}}


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Latest revision as of 17:40, 7 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Pterin-4-alpha-carbinolamine dehydratase is an enzyme that in humans is encoded by the PCBD1 gene.[1][2]

Function

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

  1. ↑ Milatovich A, Mendel DB, Crabtree GR, Francke U (Apr 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. ↑ 2.0 2.1 "Entrez Gene: PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)".
  3. ↑ Lim S, Jin K, Friedman E (Jul 2002). "Mirk protein kinase is activated by MKK3 and functions as a transcriptional activator of HNF1alpha". The Journal of Biological Chemistry. 277 (28): 25040–6. doi:10.1074/jbc.M203257200. PMID 11980910.
  4. ↑ 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 (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
  5. ↑ Sourdive DJ, 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 Research. 25 (8): 1476–84. doi:10.1093/nar/25.8.1476. PMC 146627. PMID 9092652.

Further reading

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