pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
Symbol
PCBD1
(may also be known as: None)
Organism
Human
Description
This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Orthologs
| Symbol | Species | |
|---|---|---|
| pcbd1 | Danio rerio | |
| Pcbd1 | Mus musculus | |
| Pcbd1 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0006559 | L-phenylalanine catabolic process | biological_process | |
| GO:0006729 | tetrahydrobiopterin biosynthetic process | biological_process | |
| GO:0034641 | cellular nitrogen compound metabolic process | biological_process | |
| GO:0043496 | regulation of protein homodimerization activity | biological_process | |
| GO:0044281 | small molecule metabolic process | biological_process | |
| GO:0045893 | positive regulation of transcription, DNA-dependent | biological_process | |
| GO:0051289 | protein homotetramerization | biological_process | |
| GO:0051291 | protein heterooligomerization | biological_process | |
| GO:0055114 | oxidation-reduction process | biological_process | |
| GO:0005634 | nucleus | cellular_component | |
| GO:0005730 | nucleolus | cellular_component | |
| GO:0005737 | cytoplasm | cellular_component | |
| GO:0005829 | cytosol | cellular_component | |
| GO:0003713 | transcription coactivator activity | molecular_function | |
| GO:0004505 | phenylalanine 4-monooxygenase activity | molecular_function | |
| GO:0005515 | protein binding | molecular_function | |
| GO:0008124 | 4-alpha-hydroxytetrahydrobiopterin dehydratase activity | molecular_function | |
| GO:0016829 | lyase activity | molecular_function | |
| GO:0042802 | identical protein binding | molecular_function | |