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MGP002207

Record overview

MGPD IDMGP002207
Gene ID5092
SpeciesHomo sapiens (Human)
Gene Namepterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
Gene Symbol PCBD1
SynonymsPCD; PHS; DCOH; PCBD;
Alternate namespterin-4-alpha-carbinolamine dehydratase; 4-alpha-hydroxy-tetrahydropterin dehydratase; 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1); dimerizing cofactor for HNF1; phenylalanine hydroxylase-stimulating protein;
Chromosome10
Map Location10q22
EC Number4.2.1.96
SummaryThis 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]
OrthologsView orthologs and multiple alignments for PCBD1

Proteins

pterin-4-alpha-carbinolamine dehydratase isoform 1
Refseq ID:NP_000272
Protein GI:4557831
UniProt ID:P61457
mRNA ID:NM_000281
Length:104
RefSeq Status:
MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNRAFGFMTRVALQAEKLDHHPEWFNVYNKVHITLSTHECAGLSERDINLASFIEQVA
VSMT
 
pterin-4-alpha-carbinolamine dehydratase isoform 3
Refseq ID:NP_001276726
Protein GI:577019457
UniProt ID:P61457
mRNA ID:NM_001289797
Length:55
RefSeq Status:
MTRVALQAEKLDHHPEWFNVYNKVHITLSTHECAGLSERDINLASFIEQVAVSMT
 
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