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Tbio
PCBD1
Pterin-4-alpha-carbinolamine dehydratase

Protein Classes
Protein Summary
Description
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. 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 Accession IDs
Gene Name
Ensembl ID
  • ENST00000299299
  • ENSP00000299299
  • ENSG00000166228

Symbol
  • DCOH
  • PCBD
  • PCD
  • PHS
  • DCOH
  • PCBD
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
gene perturbation
0.91
interacting protein
0.82
biological process
0.8
disease perturbation
0.74
transcription factor perturbation
0.74


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 64.36   (req: < 5)
Gene RIFs: 11   (req: <= 3)
Antibodies: 221   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 64.36   (req: >= 5)
Gene RIFs: 11   (req: > 3)
Antibodies: 221   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (7)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
reticulocyte count
2
2
2
71.3
reticulocyte measurement
3
2
3
64.9
red blood cell distribution width
2
1
2
57.8
lymphocyte count
1
1
1
52.4
2
1
2
39.6
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
reticulocyte count
2
71.3
reticulocyte measurement
3
64.9
red blood cell distribution width
2
57.8
lymphocyte count
1
52.4
2
39.6
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
pterin-4 alpha-carbinolamine dehydratase 1
VGNC:7245
747249
Macaque
pterin-4 alpha-carbinolamine dehydratase 1
709875
Mouse
MGI:94873
13180
Rat
RGD:3263
29700
Dog
pterin-4 alpha-carbinolamine dehydratase 1
VGNC:44291
609680
Species
Name
OMA
EggNOG
Inparanoid
Chimp
pterin-4 alpha-carbinolamine dehydratase 1
Macaque
pterin-4 alpha-carbinolamine dehydratase 1
Mouse
Rat
Dog
pterin-4 alpha-carbinolamine dehydratase 1
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-P61457-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (7)
Metabolism (R-HSA-1430728)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Metabolism
Reactome
Metabolism of amino acids and derivatives
Reactome
Phenylalanine and tyrosine metabolism
Reactome
Phenylalanine metabolism
Name
Explore in Pharos
Explore in Source
Metabolism
Metabolism of amino acids and derivatives
Phenylalanine and tyrosine metabolism
Phenylalanine metabolism
Protein-Protein Interactions (64)
1 – 10 of 64
PLEKHA7
Tbio
Novelty:  0.05239328
p_int:  0.999984447
p_ni:  0.000003016
p_wrong:  0.000012538
Data Source:  BioPlex
PTPDC1
Tdark
Family:  Enzyme
Novelty:  0.38792241
p_int:  0.995604806
p_ni:  0.000036715
p_wrong:  0.004358479
Data Source:  BioPlex
TADA2A
Tbio
Family:  TF
Novelty:  0.07665459
p_int:  0.99374266
p_ni:  0.006252829
p_wrong:  0.00000451
Data Source:  BioPlex
PCBD2
Tbio
Family:  Enzyme
Novelty:  0.11676823
p_int:  0.993021379
p_ni:  0.006978621
Score:  0.856
Data Source:  BioPlex,STRINGDB
YEATS2
Tbio
Novelty:  0.17584498
p_int:  0.98616298
p_ni:  0.013837015
p_wrong:  5e-9
Data Source:  BioPlex
CCDC102A
Tdark
Novelty:  1.89784272
p_int:  0.979901456
p_ni:  0.020068266
p_wrong:  0.000030278
Data Source:  BioPlex
ZMYM6
Tdark
Novelty:  0.4933879
p_int:  0.979891962
p_ni:  0.020108038
Data Source:  BioPlex
MBIP
Tbio
Novelty:  0.05807454
p_int:  0.979149543
p_ni:  0.020850457
Data Source:  BioPlex
GTF2F1
Tbio
Novelty:  0.02118098
p_int:  0.974670476
p_ni:  0.025323953
p_wrong:  0.00000557
Data Source:  BioPlex
KAT14
Tbio
Novelty:  0.17168043
p_int:  0.972965691
p_ni:  0.027034032
p_wrong:  2.77e-7
Data Source:  BioPlex
Publication Statistics
PubMed Score  64.36

PubMed score by year
PubTator Score  74.96

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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