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Identification
HMDB Protein ID HMDBP02872
Secondary Accession Numbers
  • 8379
Name Pterin-4-alpha-carbinolamine dehydratase
Synonyms
  1. 4-alpha-hydroxy-tetrahydropterin dehydratase
  2. DCoH
  3. Dimerization cofactor of HNF1
  4. Dimerization cofactor of hepatocyte nuclear factor 1-alpha
  5. PCD
  6. PHS
  7. Phenylalanine hydroxylase-stimulating protein
  8. Pterin carbinolamine dehydratase
Gene Name PCBD1
Protein Type Enzyme
Biological Properties
General Function Involved in 4-alpha-hydroxytetrahydrobiopterin dehydratase activity
Specific Function Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity.
Pathways Not Available
Reactions
(6R)-6-(L-erythro-1,2-dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxypterin → Dihydrobiopterin + Water details
4a-Hydroxytetrahydrobiopterin → 4a-Carbinolamine tetrahydrobiopterin + Water details
GO Classification
Biological Process
cellular nitrogen compound metabolic process
protein heterooligomerization
protein homotetramerization
regulation of transcription, DNA-dependent
transcription, DNA-dependent
tetrahydrobiopterin biosynthetic process
L-phenylalanine catabolic process
Cellular Component
cytosol
nucleus
Function
catalytic activity
lyase activity
4-alpha-hydroxytetrahydrobiopterin dehydratase activity
carbon-oxygen lyase activity
hydro-lyase activity
Molecular Function
phenylalanine 4-monooxygenase activity
4-alpha-hydroxytetrahydrobiopterin dehydratase activity
transcription coactivator activity
Process
metabolic process
biosynthetic process
cellular biosynthetic process
heterocycle biosynthetic process
pteridine and derivative biosynthetic process
tetrahydrobiopterin biosynthetic process
Cellular Location
  1. Nucleus
  2. Cytoplasm
Gene Properties
Chromosome Location 10
Locus 10q22
SNPs PCBD1
Gene Sequence
>315 bp
ATGGCTGGCAAAGCACACAGGCTGAGCGCTGAGGAGAGGGACCAGCTGCTGCCAAACCTG
AGGGCTGTGGGGTGGAATGAGCTGGAAGGCCGTGATGCCATCTTCAAGCAGTTTCATTTC
AAAGACTTCAACAGGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTG
GACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTCCACATCACGCTGAGCACCCAT
GAGTGTGCCGGCCTTTCAGAACGGGACATAAACCTGGCCAGCTTCATCGAACAAGTAGCA
GTGTCCATGACATAG
Protein Properties
Number of Residues 104
Molecular Weight 11999.515
Theoretical pI 6.793
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Pterin-4-alpha-carbinolamine dehydratase
MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNRAFGFMTRVALQAEKL
DHHPEWFNVYNKVHITLSTHECAGLSERDINLASFIEQVAVSMT
GenBank ID Protein 4587464
UniProtKB/Swiss-Prot ID P61457
UniProtKB/Swiss-Prot Entry Name PHS_HUMAN
PDB IDs Not Available
GenBank Gene ID AF082858
GeneCard ID PCBD1
GenAtlas ID PCBD1
HGNC ID HGNC:8646
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M: Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009 Aug 14;325(5942):834-40. doi: 10.1126/science.1175371. Epub 2009 Jul 16. [PubMed:19608861 ]
  3. Mendel DB, Khavari PA, Conley PB, Graves MK, Hansen LP, Admon A, Crabtree GR: Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein. Science. 1991 Dec 20;254(5039):1762-7. [PubMed:1763325 ]
  4. Thony B, Neuheiser F, Blau N, Heizmann CW: 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. 1995 May 25;210(3):966-73. [PubMed:7763270 ]
  5. Lei XD, Kaufman S: Characterization of expression of the gene for human pterin carbinolamine dehydratase/dimerization cofactor of HNF1. DNA Cell Biol. 1999 Mar;18(3):243-52. [PubMed:10098606 ]
  6. Hauer CR, Rebrin I, Thony B, Neuheiser F, Curtius HC, Hunziker P, Blau N, Ghisla S, Heizmann CW: Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence. J Biol Chem. 1993 Mar 5;268(7):4828-31. [PubMed:8444860 ]
  7. Citron BA, Kaufman S, Milstien S, Naylor EW, Greene CL, Davis MD: Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. Am J Hum Genet. 1993 Sep;53(3):768-74. [PubMed:8352282 ]
  8. Thony B, Neuheiser F, Kierat L, Rolland MO, Guibaud P, Schluter T, Germann R, Heidenreich RA, Duran M, de Klerk JB, Ayling JE, Blau N: Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. Hum Genet. 1998 Aug;103(2):162-7. [PubMed:9760199 ]