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PCBD1

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GENERAL INFORMATION

Gene name

 PCBD1

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

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Mainly localized to the nucleoplasm. In addition localized to the cytosol.

RNA cell category

 Mixed

Protein evidence

 Evidence at protein level

Main location

 Localized to the Nucleoplasm (validated)

Additional location

 In addition localized to the Cytosol (validated)

Single-cell variation

 Single-cell variation in protein expression observed.

DATA RELIABILITY

Reliability score

 Validated based on 2 antibodies.
HPA037575 , HPA061723
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Mixed
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Mainly localized to the nucleoplasm. In addition localized to the cytosol.

Main location

 Nucleoplasm (validated)

Additional location

 Cytosol (validated)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA037575 A-431 Nucleoplasm
HPA037575 U-2 OS Nucleoplasm
HPA037575 U-251 MG Nucleoplasm
Cytosol
HPA061723 A549 Nucleus
Cytosol
HPA061723 Hep G2 Nucleoplasm
HPA061723 U-2 OS Nucleoplasm Intensity

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
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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)
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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]
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 104 aa
12 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.