NP_000272.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
12,000 Da
NCBI Official Full Name
pterin-4-alpha-carbinolamine dehydratase isoform 1
NCBI Official Synonym Full Names
pterin-4 alpha-carbinolamine dehydratase 1
NCBI Protein Information
pterin-4-alpha-carbinolamine dehydratase
UniProt Protein Name
Pterin-4-alpha-carbinolamine dehydratase
UniProt Synonym Protein Names
4-alpha-hydroxy-tetrahydropterin dehydratase; Dimerization cofactor of hepatocyte nuclear factor 1-alpha; DCoH; Dimerization cofactor of HNF1; Phenylalanine hydroxylase-stimulating protein; Pterin carbinolamine dehydratase; PCD
UniProt Synonym Gene Names
UniProt Entry Name
PHS_HUMAN
NCBI Summary for PCBD1
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 Comments for PCBD1
PCBD1: 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. Defects in PCBD1 are the cause of BH4-deficient hyperphenylalaninemia type D (HPABH4D); also known as hyperphenylalaninemia with primapterinuria. HPABH4D is characterized by the excretion of 7-substituted pterins in the urine of affected patients. Belongs to the pterin-4-alpha-carbinolamine dehydratase family.
Protein type: EC 4.2.1.96; Transcription, coactivator/corepressor; Oxidoreductase; Lyase
Chromosomal Location of Human Ortholog: 10q22
Cellular Component: cytoplasm; cytosol; nucleoplasm
Molecular Function: 4-alpha-hydroxytetrahydrobiopterin dehydratase activity; identical protein binding; phenylalanine 4-monooxygenase activity; protein binding; transcription coactivator activity
Biological Process: L-phenylalanine catabolic process; positive regulation of transcription, DNA-dependent; protein heterooligomerization; protein homotetramerization; regulation of protein homodimerization activity; tetrahydrobiopterin biosynthetic process; transcription, DNA-dependent
Disease: Hyperphenylalaninemia, Bh4-deficient, D
Research Articles on PCBD1
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Products associated with anti-PCBD1 antibody
Pathways associated with anti-PCBD1 antibody
Diseases associated with anti-PCBD1 antibody
Organs/Tissues associated with anti-PCBD1 antibody
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