Pterin-4-alpha-carbinolamine dehydratase

Details

Name
Pterin-4-alpha-carbinolamine dehydratase
Synonyms
  • 4-alpha-hydroxy-tetrahydropterin dehydratase
  • 4.2.1.96
  • DCOH
  • Dimerization cofactor of hepatocyte nuclear factor 1-alpha
  • Dimerization cofactor of HNF1
  • PCBD
  • PCD
  • Phenylalanine hydroxylase-stimulating protein
  • PHS
  • Pterin carbinolamine dehydratase
Gene Name
PCBD1
Organism
Humans
Amino acid sequence
>lcl|BSEQ0017472|Pterin-4-alpha-carbinolamine dehydratase
MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNRAFGFMTRVALQAEKL
DHHPEWFNVYNKVHITLSTHECAGLSERDINLASFIEQVAVSMT
Number of residues
104
Molecular Weight
11999.515
Theoretical pI
Not Available
GO Classification
Functions
4-alpha-hydroxytetrahydrobiopterin dehydratase activity / identical protein binding / phenylalanine 4-monooxygenase activity / transcription coactivator activity
Processes
cellular nitrogen compound metabolic process / L-phenylalanine catabolic process / positive regulation of transcription, DNA-templated / protein heterooligomerization / protein homotetramerization / regulation of protein homodimerization activity / small molecule metabolic process / tetrahydrobiopterin biosynthetic process / transcription, DNA-templated
Components
cytoplasm / cytosol / extracellular exosome / nucleoplasm
General Function
Transcription coactivator 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.
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Cytoplasm
Gene sequence
>lcl|BSEQ0017473|Pterin-4-alpha-carbinolamine dehydratase (PCBD1)
ATGGCTGGCAAAGCACACAGGCTGAGCGCTGAGGAGAGGGACCAGCTGCTGCCAAACCTG
AGGGCTGTGGGGTGGAATGAGCTGGAAGGCCGTGATGCCATCTTCAAGCAGTTTCATTTC
AAAGACTTCAACAGGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTG
GACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTCCACATCACGCTGAGCACCCAT
GAGTGTGCCGGCCTTTCAGAACGGGACATAAACCTGGCCAGCTTCATCGAACAAGTAGCA
GTGTCCATGACATAG
Chromosome Location
10
Locus
Not Available
External Identifiers
ResourceLink
UniProtKB IDP61457
UniProtKB Entry NamePHS_HUMAN
HGNC IDHGNC:8646
General References
  1. 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]
  2. 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]
  3. 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]
  4. 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]
  5. 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]
  6. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. [PubMed:21269460]
  7. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. [PubMed:24275569]
  8. 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]
  9. 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]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB04400L-erythro-7,8-dihydrobiopterinexperimentalunknownDetails
DB13257Ferrous sulfate anhydrousapprovedunknownligandDetails