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Tclin
PAH
Phenylalanine-4-hydroxylase

Protein Summary
Description
Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine. This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000553106
  • ENSP00000448059
  • ENSG00000171759

Symbol
  • PH
  • PKU
  • PKU1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
protein domain
0.85
molecular function
0.63
biological term
0.62
drug
0.6
gene perturbation
0.6


Protein Classes
No PANTHER Classes or DTO Classes found
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: 255.47   (req: < 5)
Gene RIFs: 135   (req: <= 3)
Antibodies: 260   (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: 255.47   (req: >= 5)
Gene RIFs: 135   (req: > 3)
Antibodies: 260   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7
Tchem

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

Active Ligand: 1
Tclin

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

Active Drug: 1
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
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.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Protein-Protein Interactions (128)
QDPR
Tchem
Family:  Enzyme
Novelty:  0.00836889
Score:  0.994
Data Source:  STRINGDB
PCBD1
Tbio
Family:  Enzyme
Novelty:  0.01564376
Score:  0.984
Data Source:  STRINGDB
SPR
Tchem
Family:  Enzyme
Novelty:  0.02144934
Score:  0.98
Data Source:  STRINGDB
TAT
Tbio
Family:  Enzyme
Novelty:  0.00079176
Score:  0.978
Data Source:  STRINGDB
DDC
Tclin
Family:  Enzyme
Novelty:  0.0012284
Score:  0.971
Data Source:  STRINGDB
HGD
Tbio
Family:  Enzyme
Novelty:  0.01924565
Score:  0.945
Data Source:  STRINGDB
DHFR
Tclin
Family:  Enzyme
Novelty:  0.00074557
Score:  0.945
Data Source:  STRINGDB
GOT1
Tbio
Family:  Enzyme
Novelty:  0.00448817
Score:  0.924
Data Source:  STRINGDB
PCBD2
Tbio
Family:  Enzyme
Novelty:  0.11676823
Score:  0.923
Data Source:  STRINGDB
AKR1B1
Tclin
Family:  Enzyme
Novelty:  0.00045769
Score:  0.92
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (27)
Disease (R-HSA-1643685)

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

Find Similar Targets
Items per page:
1 – 5 of 7
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Disease
Reactome
Diseases of metabolism
Reactome
Metabolism
Reactome
Metabolism of amino acids and derivatives
Reactome
Phenylalanine and tyrosine metabolism
Name
Explore in Pharos
Explore in Source
Disease
Diseases of metabolism
Metabolism
Metabolism of amino acids and derivatives
Phenylalanine and tyrosine metabolism
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (10)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
amino acid measurement
4
5
6
92.8
blood metabolite measurement
3
3
3
80.2
protein measurement
1
1
1
64
serum metabolite measurement
1
1
1
52
IGF-1 measurement
1
1
1
35
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
amino acid measurement
6
92.8
blood metabolite measurement
3
80.2
protein measurement
1
64
serum metabolite measurement
1
52
IGF-1 measurement
1
35
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (15)
1 – 5 of 15
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
phenylalanine hydroxylase
VGNC:52071
741097
Macaque
phenylalanine hydroxylase
698696
Mouse
MGI:97473
18478
Rat
RGD:3248
24616
Dog
phenylalanine hydroxylase
VGNC:54218
475446
Species
Name
OMA
EggNOG
Inparanoid
Chimp
phenylalanine hydroxylase
Macaque
phenylalanine hydroxylase
Mouse
Rat
Dog
phenylalanine hydroxylase
Publication Statistics
PubMed Score 255.47
PubMed score by year
PubTator Score 1467.85
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title