PCBD1
PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1) is a moonlighting protein that acts as a dehydratase in tetrahydrobiopterin biosynthesis and as a transcriptional cofactor for HNF1A. It is also known as PCD, DCOH and PCBD. Browse Assay Genie's current range of PCBD1 research reagents below, or read on for the biology behind the target.
PCBD1 is involved in tetrahydrobiopterin biosynthesis, where it acts as a pterin-4-alpha-carbinolamine dehydratase. It appears both to prevent the formation of 7-pterins and to accelerate the formation of quinonoid-BH2. The same protein also has a separate role in the nucleus: it is a coactivator for HNF1A-dependent transcription, regulating the dimerization of the homeodomain protein HNF1A and enhancing its transcriptional activity. It also acts as a coactivator for HNF1B-dependent transcription.
Because it performs mechanistically distinct functions, PCBD1 has been identified as a moonlighting protein. This dual activity is reflected in its subcellular locations, which include the cytoplasm and the nucleus. The PCBD1 gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family, and alternative splicing results in multiple transcript variants. Mouse and rat each have a Pcbd1 ortholog.
The names of the gene reflect both roles. Earlier HGNC names combine the pterin-4 alpha-carbinolamine dehydratase activity with its role as a dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1), and the aliases PCD, DCOH and PCBD are still in use. A deficiency of this enzyme leads to hyperphenylalaninemia, which links the PCBD1 protein to disorders of pterin metabolism.
PCBD1 is involved in tetrahydrobiopterin biosynthesis, where it seems to prevent 7-pterin formation and accelerate quinonoid-BH2 formation.
PCBD1 is a coactivator for HNF1A- and HNF1B-dependent transcription and regulates HNF1A dimerization, making it relevant to studies of these transcription factors.
PCBD1 performs mechanistically distinct enzymatic and transcriptional functions, so it serves as a model for studying multifunctional proteins.
Deficiency of this enzyme leads to hyperphenylalaninemia, so PCBD1 is studied in disorders of pterin and phenylalanine metabolism.
PCBD1 is a dehydratase involved in tetrahydrobiopterin biosynthesis, where it seems to prevent formation of 7-pterins and accelerate formation of quinonoid-BH2. It also coactivates HNF1A-dependent and HNF1B-dependent transcription and regulates HNF1A dimerization.
PCBD1 is also called PCD, DCOH and PCBD. Its full name is pterin-4 alpha-carbinolamine dehydratase 1. Earlier names referred to it as a dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1). Alternative splicing gives multiple transcript variants.
Mouse and rat both have a Pcbd1 ortholog, so rodent models can be used for functional work; check the datasheet of any product for its validated reactivity. A deficiency of the enzyme leads to hyperphenylalaninemia in humans.
Transcription factors and pathway partners connected to PCBD1 function.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P61457; product specifications from Assay Genie datasheets.