PCBD1 information

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)
End	70,888,565 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	60,930,103 bp
RNA expression pattern
	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; ; 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
	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
	5092
	13180
	ENSG00000166228
	ENSMUSG00000020098
	P61457
	P61458
	NM_000281; NM_001289797; NM_001323004; NM_001001939
	NM_025273
	NP_000272; NP_001276726; NP_001309933
	NP_079549
	Wikidata
View/Edit Human	View/Edit Mouse

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000166228 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020098 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Milatovich A, Mendel DB, Crabtree GR, Francke U (April 1993). "Genes for the dimerization cofactor of hepatocyte nuclear factor-1 alpha (DCOH) are on human and murine chromosomes 10". Genomics. 16 (1): 292–295. doi:10.1006/geno.1993.1182. PMID 8486378.
^ "Entrez Gene: PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000166228 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020098 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8486378-5] Milatovich A, Mendel DB, Crabtree GR, Francke U (April 1993). "Genes for the dimerization cofactor of hepatocyte nuclear factor-1 alpha (DCOH) are on human and murine chromosomes 10". Genomics. 16 (1): 292–295. doi:10.1006/geno.1993.1182. PMID 8486378.

[entrez-6] "Entrez Gene: PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)".

PCBD1 information

and 7 Related for: PCBD1 information

PCBD1

Magnesium deficiency

List of genetic disorders

Chromosome 10

Tetrahydrobiopterin deficiency

DYRK1B

HNF1A