PCBD1

Entrez Summary: 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].
UniProt Summary: 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.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/726

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/25
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/15
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/14
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/7
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

4-alpha-hydroxytetrahydrobiopterin dehydratase activity
phenylalanine 4-monooxygenase activity
tetrahydrobiopterin metabolic process
tetrahydrobiopterin biosynthetic process
L-phenylalanine metabolic process
L-phenylalanine catabolic process
erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process
erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process
pteridine-containing compound biosynthetic process
diol biosynthetic process
diol metabolic process
regulation of protein homodimerization activity
aromatic amino acid family catabolic process
pteridine-containing compound metabolic process
aromatic amino acid family metabolic process
polyol biosynthetic process
protein homotetramerization
alpha-amino acid catabolic process
protein heterooligomerization
polyol metabolic process
alcohol biosynthetic process
cellular amino acid catabolic process
coenzyme biosynthetic process
drug catabolic process
protein tetramerization
organic hydroxy compound biosynthetic process
alpha-amino acid metabolic process
cofactor biosynthetic process
regulation of protein binding
coenzyme metabolic process
carboxylic acid catabolic process
organic acid catabolic process
transcription coactivator activity
cellular amino acid metabolic process
alcohol metabolic process
protein homooligomerization
regulation of binding
small molecule catabolic process
cofactor metabolic process
aromatic compound catabolic process