PCBD1

Pterin-4-alpha-carbinolamine dehydratase is an enzyme that in humans is encoded by the PCBD1 gene.^[5][6]

PCBD1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1DCH, 1F93, 1DCO, 1DCP
Identifiers
Aliases	PCBD1, DCOH, PCBD, PCD, PHS, pterin-4 alpha-carbinolamine dehydratase 1
External IDs	OMIM: 126090; MGI: 94873; HomoloGene: 57028; GeneCards: PCBD1; OMA:PCBD1 - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q22.1 Start 70,882,280 bp[1] End 70,888,565 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 B4|10 32.14 cM Start 60,925,110 bp[2] End 60,930,103 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver body of pancreas right adrenal cortex left adrenal gland left adrenal cortex apex of heart mucosa of transverse colon body of stomach right auricle of heart muscle layer of sigmoid colon Top expressed in right kidney yolk sac proximal tubule left lobe of liver human kidney islet of Langerhans epithelium of stomach lumbar spinal ganglion migratory enteric neural crest cell Ileal epithelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transcription coactivator activity phenylalanine 4-monooxygenase activity protein binding lyase activity identical protein binding 4-alpha-hydroxytetrahydrobiopterin dehydratase activity Cellular component nucleoplasm extracellular exosome nucleus cytoplasm cytosol Biological process regulation of transcription, DNA-templated protein heterooligomerization L-phenylalanine catabolic process transcription, DNA-templated positive regulation of transcription, DNA-templated tetrahydrobiopterin biosynthetic process protein homotetramerization regulation of protein homodimerization activity L-phenylalanine metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5092 13180 Ensembl ENSG00000166228 ENSMUSG00000020098 UniProt P61457 P61458 RefSeq (mRNA) NM_000281 NM_001289797 NM_001323004 NM_001001939 NM_025273 RefSeq (protein) NP_000272 NP_001276726 NP_001309933 NP_079549 Location (UCSC) Chr 10: 70.88 – 70.89 Mb Chr 10: 60.93 – 60.93 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1).^[6]

Clinical significance

Mutations of the PCBD1 gene cause pterin-4 alpha-carbinolamine dehydratase deficiency, one of the forms of tetrahydrobiopterin deficiency.^[7]

Interactions

PCBD1 has been shown to interact with DYRK1B^[8] and HNF1A.^[9][10]