Pterin-4-alpha-carbinolamine dehydratase
Details
- Name
- Pterin-4-alpha-carbinolamine dehydratase
- Kind
- protein
- 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
- UniProtKB Entry
- P61457Swiss-Prot
- Organism
- Humans
- NCBI Taxonomy ID
- 9606
- 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
- Not Available
- General Function
- Involved in tetrahydrobiopterin biosynthesis (By similarity). Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription (By similarity). Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity (By similarity). Also acts as a coactivator for HNF1B-dependent transcription (PubMed:24204001)
- Specific Function
- 4-alpha-hydroxytetrahydrobiopterin dehydratase activity
- Pfam Domain Function
- Pterin_4a (PF01329)
- Signal Regions
- Not Available
- 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
- 10q22.1
- External Identifiers
Resource Link UniProtKB ID P61457 UniProtKB Entry Name PHS_HUMAN GeneCard ID PCBD1 HGNC ID HGNC:8646 KEGG ID hsa:5092 NCBI Gene ID 5092 - General References
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
Associated Data
- Drug Relations
Drug Drug group Pharmacological action? Type Actions Details L-erythro-7,8-dihydrobiopterin experimental unknown target Details