L-Phenylalanine hydroxylase

Target id: 1240

Nomenclature: L-Phenylalanine hydroxylase

Family: Amino acid hydroxylases, Catecholamine turnover

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

   GtoImmuPdb view: OFF :     Currently no data for L-Phenylalanine hydroxylase in GtoImmuPdb

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 452 12q22-q24.2 PAH phenylalanine hydroxylase
Mouse - 453 10 43.64 cM Pah phenylalanine hydroxylase
Rat - 453 7q13 Pah phenylalanine hydroxylase
Previous and Unofficial Names
Phenylalanine 4-monooxygenase | PH | phe-4-monooxygenase | phenylalanine-4-hydroxylase
Database Links
BRENDA
CATH/Gene3D
DrugBank Target
Ensembl Gene
Entrez Gene
GenitoUrinary Development Molecular Anatomy Project
Human Protein Atlas
KEGG Enzyme
KEGG Gene
OMIM
Orphanet
SynPHARM
UniProtKB
Wikipedia
Enzyme Reaction
EC Number: 1.14.16.1 L-phenylalanine + O2 -> L-tyrosine
Substrates and Reaction Kinetics
Substrate Sp. Property Value Units Standard property Standard value Assay description Assay conditions Comments Reference
L-phenylalanine N/A - -
Products
Product Species Reference
L-tyrosine Human
Cofactors
Cofactor Species Comments Reference
sapropterin Human
Endogenous activators (Rat)
Protein kinase A-mediated phosphorylation  [1]

Download all structure-activity data for this target as a CSV file

Activators
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Affinity Units Reference
sapropterin Hs Activation 5.4 pKi 3
pKi 5.4 (Ki 4x10-6 M) [3]
Description: Binding affinity for human PAH.
Activator Comments
L-Phenylalanine hydroxylase is the probable primary target of the approved activating drug sapropterin.
Inhibitors
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Affinity Units Reference
α-methylphenylalanine Rn Inhibition - - 2
[2]
fenclonine Hs Inhibition - -
View species-specific inhibitor tables
Clinically-Relevant Mutations and Pathophysiology
Disease:  Classical phenylketonuria
Synonyms: Phenylketonuria [OMIM: 261600] [Disease Ontology: DOID:9281]
Disease Ontology: DOID:9281
OMIM: 261600
Orphanet: ORPHA79254
Drugs: 
Disease:  Maternal hyperphenylalaninemia
OMIM: 261600
Orphanet: ORPHA2209
Disease:  Mild hyperphenylalaninemia
OMIM: 261600
Orphanet: ORPHA79651
Drugs: 
Disease:  Mild phenylketonuria
Synonyms: Phenylketonuria [OMIM: 261600] [Disease Ontology: DOID:9281]
Disease Ontology: DOID:9281
OMIM: 261600
Orphanet: ORPHA79253
Drugs: 
Disease:  Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Orphanet: ORPHA293284
Drugs: 

References

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1. Abita JP, Milstien S, Chang N, Kaufman S. (1976) In vitro activation of rat liver phenylalanine hydroxylase by phosphorylation. J. Biol. Chem.251 (17): 5310-4. [PMID:182695]

2. Greengard O, Yoss MS, Del Valle JA. (1976) Alpha-methylphenylalanine, a new inducer of chronic hyperphenylalaninemia in sucling rats. Science192 (4243): 1007-8. [PMID:944951]

3. Teigen K, Dao KK, McKinney JA, Gorren AC, Mayer B, Frøystein NA, Haavik J, Martínez A. (2004) Tetrahydrobiopterin binding to aromatic amino acid hydroxylases. Ligand recognition and specificity. J. Med. Chem.47 (24): 5962-71. [PMID:15537351]

How to cite this page

Amino acid hydroxylases: L-Phenylalanine hydroxylase . Last modified on 01/04/2015. Accessed on 21/10/2017. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1240.