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pterin-4-alpha carbinolamine dehydratase; 4-alpha-hydroxy-tetrahydrobiopterin dehydratase; phenylalanine hydroxylase-stimulating protein; PCD; dimerization cofactor of hepatocyte nuclear factor 1-alpha (PCBD1, PHS, DCOH)
Function:
- role in tetrahydrobiopterin biosynthesis
- seems to both prevent the formation of 7-pterins & accelerate formation of quinonoid-BH2
- regulates dimerization of homeodomain protein HNF-1-alpha & enhances its transcriptional activity
(6R)-6-(L-erythro-1,2-dihydroxypropyl)-5,6,7,8-tetrahydro- 4a-hydroxypterin
(6R)-6-(L-erythro-1,2-dihydroxypropyl)-7,8-dihydro-6H-pterin + H2O
Structure:
- homotetramer or homodimer
- belongs to the pterin-4-alpha-carbinolamine dehydratase family
Compartment: cytoplasm. nucleus
Pathology:
- defects in PCBD1 are a cause of hyperphenylalaninemia with primapterinuria
General
hydro-lyase, hydratase or dehydratase
Properties
SIZE: entity length = 104 aa
MW = 12 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
active site
Database Correlations
OMIM correlations
MORBIDMAP 126090
UniProt P61457
Pfam PF01329
Entrez Gene 5092
Kegg hsa:5092
ENZYME 4.2.1.96
References
- UniProt :accession P61457
- BIOMDB; Note: Db of mutations causing tetrahydrobiopterin
deficiencies
http://www.bh4.org/biodef1.html
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PCBD1