Expression of PCBD1 in cancer - Summary

CANCER ATLAS

Gene description

Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha

Protein class

Disease related genes, Enzymes, Potential drug targets, Predicted intracellular proteins

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Liver cancer

STAINING SUMMARY

HPA037575

GENE INFORMATION
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 83.38)
Entrez gene	5092
UniProt	P61457 (UniProt - Evidence at protein level)
neXtProt	NX_P61457
Antibodypedia	PCBD1 antibodies

PROTEIN BROWSER

PCBD1-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PCBD1-001 ENSP00000299299 ENST00000299299	P61457 [Direct mapping] Pterin-4-alpha-carbinolamine dehydratase Show all	Enzymes ENZYME proteins Lyases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003713 [transcription coactivator activity] GO:0004505 [phenylalanine 4-monooxygenase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0006351 [transcription, DNA-templated] GO:0006559 [L-phenylalanine catabolic process] GO:0006729 [tetrahydrobiopterin biosynthetic process] GO:0008124 [4-alpha-hydroxytetrahydrobiopterin dehydratase activity] GO:0034641 [cellular nitrogen compound metabolic process] GO:0042802 [identical protein binding] GO:0043496 [regulation of protein homodimerization activity] GO:0044281 [small molecule metabolic process] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0051289 [protein homotetramerization] GO:0051291 [protein heterooligomerization] GO:0055114 [oxidation-reduction process] GO:0070062 [extracellular exosome] Show all	104 aa 12 kDa	No	0