PCBD1 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | PCBD1 |
| Official Name | pterin-4 alpha-carbinolamine dehydratase 1 [Source:HGNC Symbol;Acc:HGNC:8646] |
| Ensembl ID | ENSG00000166228 |
| Bio databases IDs | |
| Aliases | pterin-4 alpha-carbinolamine dehydratase 1, Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha), pterin-4-alpha carbinolamine dehydratase, dimerizing cofactor for HNF1 |
| Synonyms | DCOH, HNF dimer cofactor, PCBD, PCD, PHS, pterin-4 alpha-carbinolamine dehydratase 1, pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1, pterin 4 α carbinolamine dehydratase, pterin-4 α-carbinolamine dehydratase 1, pterin 4 α carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 α (TCF1) 1, TCF1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PCBD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 4a-hydroxytetrahydrobiopterin dehydratase
- phenylalanine 4-monooxygenase
- transcription regulator
- transcription co-activator
- PCD_DCoH
- Pterin 4 alpha carbinolamine dehydratase
- enzyme
- protein binding
- identical protein binding
Pathways
Biological processes and signaling networks where the PCBD1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- BH4-deficient hyperphenylalaninemia type d
- androgenic alopecia
- hypopigmentation
- ketoaciduria
- epidermal hyperplasia
- psoriasis
- microphthalmia
- cataract disease
role in cell
- activation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- perinuclear region
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PCBD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tyrosine biosynthetic process, by oxidation of phenylalanine
- tetrahydrobiopterin biosynthetic process
- positive regulation of transcription, DNA-dependent
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- transcription coactivator activity
- phenylalanine 4-monooxygenase activity
- 4-alpha-hydroxytetrahydrobiopterin dehydratase activity