Protein: P61457

UniprotKB AC UniprotKB ID Gene name Full name Species Curated set
P61457 (Uniprot) PHS_HUMAN PCBD1 Pterin-4-alpha-carbinolamine dehydratase human Yes
Uniprot: 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.
Dissimilar Functions Manual Curation

Function 1: Carbinolamine dehydratase. Regulation of phenylalanine hydroxylation.

Function 2: Dimerization cofactor. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity.

Publications (PMID): 1465414

Biological Processes
Module ID (MoonGO) GO ID (BP) GO Name
57 GO:0006139 nucleobase-containing compound metabolic process
103 GO:0006139 nucleobase-containing compound metabolic process
132 GO:0090304 nucleic acid metabolic process
132 GO:0060255 regulation of macromolecule metabolic process
159 GO:0006464 cellular protein modification process
159 GO:0006355 regulation of transcription, DNA-templated
159 GO:0007165 signal transduction
211 GO:0034645 cellular macromolecule biosynthetic process
211 GO:0044271 cellular nitrogen compound biosynthetic process
211 GO:0090304 nucleic acid metabolic process
211 GO:0060255 regulation of macromolecule metabolic process
261 GO:0006355 regulation of transcription, DNA-templated
341 GO:0070887 cellular response to chemical stimulus
341 GO:0045893 positive regulation of transcription, DNA-templated
341 GO:0006357 regulation of transcription from RNA polymerase II promoter
373 GO:0034645 cellular macromolecule biosynthetic process
373 GO:0006139 nucleobase-containing compound metabolic process
373 GO:0060255 regulation of macromolecule metabolic process
424 GO:0006464 cellular protein modification process
424 GO:0033554 cellular response to stress
424 GO:0045893 positive regulation of transcription, DNA-templated
424 GO:0006357 regulation of transcription from RNA polymerase II promoter
424 GO:0007165 signal transduction
608 GO:0060255 regulation of macromolecule metabolic process
622 GO:0007165 signal transduction
679 GO:0031325 positive regulation of cellular metabolic process
679 GO:0010604 positive regulation of macromolecule metabolic process
679 GO:0051173 positive regulation of nitrogen compound metabolic process
679 GO:0006357 regulation of transcription from RNA polymerase II promoter
679 GO:0007165 signal transduction
680 GO:0016070 RNA metabolic process
680 GO:0009059 macromolecule biosynthetic process
680 GO:0060255 regulation of macromolecule metabolic process
699 GO:0022607 cellular component assembly
699 GO:0051649 establishment of localization in cell
699 GO:0071705 nitrogen compound transport
699 GO:0008104 protein localization
699 GO:0019538 protein metabolic process
728 GO:0044267 cellular protein metabolic process
728 GO:0031325 positive regulation of cellular metabolic process
728 GO:0010604 positive regulation of macromolecule metabolic process
728 GO:0051173 positive regulation of nitrogen compound metabolic process
728 GO:0051252 regulation of RNA metabolic process
728 GO:0010468 regulation of gene expression
728 GO:0007165 signal transduction
740 GO:0006355 regulation of transcription, DNA-templated
Cellular Components
Module ID (MoonGO) GO ID (CC) GO Name
57 GO:0005634 nucleus
103 GO:0070013 intracellular organelle lumen
103 GO:0005634 nucleus
132 GO:0005634 nucleus
159 GO:0005829 cytosol
159 GO:0005654 nucleoplasm
208 GO:0005634 nucleus
211 GO:0005829 cytosol
211 GO:0031981 nuclear lumen
261 GO:0031981 nuclear lumen
291 GO:0043232 intracellular non-membrane-bounded organelle
291 GO:0005634 nucleus
341 GO:0005654 nucleoplasm
424 GO:0005829 cytosol
424 GO:0005654 nucleoplasm
502 GO:0005829 cytosol
502 GO:0031981 nuclear lumen
608 GO:0043232 intracellular non-membrane-bounded organelle
608 GO:0005634 nucleus
622 GO:0005829 cytosol
622 GO:0070013 intracellular organelle lumen
622 GO:0005634 nucleus
642 GO:0005634 nucleus
679 GO:0031981 nuclear lumen
680 GO:0005634 nucleus
699 GO:0005829 cytosol
699 GO:0012505 endomembrane system
699 GO:0043232 intracellular non-membrane-bounded organelle
699 GO:0005634 nucleus
699 GO:0031982 vesicle
728 GO:0005829 cytosol
728 GO:0005634 nucleus
740 GO:0070013 intracellular organelle lumen
740 GO:0005634 nucleus
GO ID (BP) GO Name Evidence Code (GO EC)
GO:0006351 transcription, DNA-templated IEA
GO:0006559 L-phenylalanine catabolic process TAS
GO:0006729 tetrahydrobiopterin biosynthetic process IEA
GO:0043496 regulation of protein homodimerization activity IEA
GO:0045893 positive regulation of transcription, DNA-templated IEA
GO:0051289 protein homotetramerization IEA
GO:0051291 protein heterooligomerization IEA
GO:0055114 oxidation-reduction process IEA
GO ID (CC) GO Name Evidence Code (GO EC)
GO:0005634 nucleus IDA
GO:0005654 nucleoplasm IDA
GO:0005829 cytosol TAS
GO:0070062 extracellular exosome IDA
GO ID 1 Component 1 GO ID 2 Component 2 Association Probability (PrOnto) Interaction Probability (PrOnto)
GO:0005634 nucleus GO:0070062 extracellular exosome 6.30e-13 4.54e-26
GO:0005654 nucleoplasm GO:0070062 extracellular exosome 3.37e-20 1.23e-35
PMID Article Title
1763325 Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein.
7763270 Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha.
8352282 Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.
8444860 Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence.
9760199 Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.
10098606 Characterization of expression of the gene for human pterin carbinolamine dehydratase/dimerization cofactor of HNF1.
15489334 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
21269460 Initial characterization of the human central proteome.
24275569 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
OMIM ID Disease Name
264070 Hyperphenylalaninemia, BH4-deficient, D
Domain Name Domain ID Source
A47010 A47010 PIR
Pterin_deHydtase IPR001533 InterPro
PCD_sf IPR036428 InterPro
Pterin_4_alpha MF_00434 HAMAP
Pterin_4a PF01329 Pfam
SSF55248 SSF55248 SUPFAM