PCBD1

From Wikipedia, the free encyclopedia

Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)

PDB rendering based on 1dch.

Available structures: 1dch, 1dco, 1dcp, 1f93

Identifiers

Symbol(s)

PCBD1; PCD; PHS; DCOH; PCBD

External IDs

OMIM: 126090 MGI: 94873 HomoloGene: 57028

Gene ontology
Molecular Function:	• transcription coactivator activity • phenylalanine 4-monooxygenase activity • 4-alpha-hydroxytetrahydrobiopterin dehydratase activity • lyase activity • identical protein binding
Biological Process:	• tetrahydrobiopterin biosynthetic process • protein homotetramerization • protein heterooligomerization

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000281 (mRNA)
NP_000272 (protein)

NM_025273 (mRNA)
NP_079549 (protein)

Location

Chr 10: 72.31 - 72.32 Mb

Chr 10: 60.49 - 60.49 Mb

Pubmed search

[1]

[2]

Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1), also known as PCBD1, is a human gene.^[1]

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).^[1]

[edit] References

^ ^a ^b Entrez Gene: PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1).

[edit] Further reading

Hansen LP, Crabtree GR (1993). "Regulation of the HNF-1 homeodomain proteins by DCoH.". Curr. Opin. Genet. Dev. 3 (2): 246–53. PMID 8504250.
Suck D, Ficner R (1996). "Structure and function of PCD/DCoH, an enzyme with regulatory properties.". FEBS Lett. 389 (1): 35–9. PMID 8682201.
Thöny B, Auerbach G, Blau N (2000). "Tetrahydrobiopterin biosynthesis, regeneration and functions.". Biochem. J. 347 Pt 1: 1–16. PMID 10727395.
Mendel DB, Khavari PA, Conley PB, et al. (1992). "Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein.". Science 254 (5039): 1762–7. PMID 1763325.
Thöny B, Neuheiser F, Blau N, Heizmann CW (1995). "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. 210 (3): 966–73. doi:10.1006/bbrc.1995.1751. PMID 7763270.
Thöny B, Heizmann CW, Mattei MG (1994). "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.". Genomics 19 (2): 365–8. doi:10.1006/geno.1994.1071. PMID 8188266.
Citron BA, Kaufman S, Milstien S, et al. (1993). "Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.". Am. J. Hum. Genet. 53 (3): 768–74. PMID 8352282.
Hauer CR, Rebrin I, Thöny B, et al. (1993). "Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence.". J. Biol. Chem. 268 (7): 4828–31. PMID 8444860.
Milatovich A, Mendel DB, Crabtree GR, Francke U (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.
Johnen G, Kowlessur D, Citron BA, Kaufman S (1996). "Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia.". Proc. Natl. Acad. Sci. U.S.A. 92 (26): 12384–8. PMID 8618906.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548.
Sourdive DJ, Transy C, Garbay S, Yaniv M (1997). "The bifunctional DCOH protein binds to HNF1 independently of its 4-alpha-carbinolamine dehydratase activity.". Nucleic Acids Res. 25 (8): 1476–84. PMID 9092652.
Johnen G, Kaufman S (1998). "Studies on the enzymatic and transcriptional activity of the dimerization cofactor for hepatocyte nuclear factor 1.". Proc. Natl. Acad. Sci. U.S.A. 94 (25): 13469–74. PMID 9391049.
Thöny B, Neuheiser F, Kierat L, et al. (1998). "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).". Am. J. Hum. Genet. 62 (6): 1302–11. PMID 9585615.
Thöny B, Neuheiser F, Kierat L, et al. (1998). "Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.". Hum. Genet. 103 (2): 162–7. PMID 9760199.
Lei XD, Kaufman S (1999). "Characterization of expression of the gene for human pterin carbinolamine dehydratase/dimerization cofactor of HNF1.". DNA Cell Biol. 18 (3): 243–52. doi:10.1089/104454999315466. PMID 10098606.
Waters PJ, Scriver CR, Parniak MA (2001). "Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia.". Mol. Genet. Metab. 73 (3): 230–8. doi:10.1006/mgme.2001.3198. PMID 11461190.