PCBD1

GENE INFORMATION

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Gene name

PCBD1 (HGNC Symbol)

Synonyms

DCOH, PCBD, PCD

Description

Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (HGNC Symbol)

Entrez gene 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]

Chromosome

10

Cytoband

q22.1

Chromosome location (bp)

70882280 - 70888784

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000166228 (version 78.38)

Entrez gene

5092

UniProt

P61457 (UniProt - Evidence at protein level)

neXtProt

NX_P61457

Antibodypedia

PCBD1 antibodies
 

PROTEIN VIEW

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PCBD1-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PCBD1-001 ENSP00000299299
ENST00000299299
P61457
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