DGIdb - PAH Gene Record

PAH 5053 Druggable Genome

Alternate Names:

5053
PHENYLALANINE HYDROXYLASE
PAH
PH
PKU
PKU1
612349
8582
ENSG00000171759
OTTHUMG00000169966
P00439
PH4H_HUMAN
PHENYLALANINE-4-HYDROXYLASE
PHENYLALANINE-4-HYDROXYLASE (EC 1.14.16.1) (PAH) (PHE-4- MONOOXYGENASE). [SOURCE:UNIPROT/SWISSPROT;ACC:P00439]
Phe-4-monooxygenase
PA32911
T76213
Pancreatic hormone
T35303

Gene Info:

Uniprot Evidence	1: Evidence at protein level
Interpro Acc	IPR001273
Interpro Name	Aromatic amino acid hydroxylase
Interpro Short Name	ArAA_hydroxylase
Uniprot Status	Swiss-Prot
Interpro Type	Family
Human Readable Name	DRUGGABLE GENOME
Target Class	Enzymes
Target Subclass	EC:1.14.16.1
Target Subclass	1.14.16.1
Target Main Class	Enzymes
Gene Biotype	PROTEIN_CODING

(7 More Sources)

Gene Categories: Category Details

DRUGGABLE GENOME
ENZYME

Publications:

Steventon GB et al., 2009, The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine., Mol Genet Metab
Zekanowski et al., 1998, Identification of Mutations Causing 6-Pyruvoyl- Tetrahydrobiopterin Synthase Deficiency in Polish Patients With Variant Hyperphenylalaninemia., Mol. Diagn.
Werner et al., 2000, Contrasting effects of N5-substituted tetrahydrobiopterin derivatives on phenylalanine hydroxylase, dihydropteridine reductase and nitric oxide synthase., Biochem. J.
Jennings et al., 2001, Essential role of the N-terminal autoregulatory sequence in the regulation of phenylalanine hydroxylase., FEBS Lett.
Ayling et al., 2000, Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies., Mol. Genet. Metab.
Fitzpatrick, 1999, Tetrahydropterin-dependent amino acid hydroxylases., Annu. Rev. Biochem.

SAPROPTERIN PAH

Interaction Score: 86.56

Interaction Types & Directionality:

activator (activating)

cofactor (activating)

Interaction Info:

Trial Name -

Novel drug target Established target

PMIDs:
10089284 10839989 11163771 10924272 10872454

Sources:
TdgClinicalTrial TEND
CARBOCYSTEINE PAH

Interaction Score: 24.73

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
19036622

Sources:
PharmGKB
PEGVALIASE PAH

Interaction Score: 12.37

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
None found

Sources:
TTD
SAPROPTERIN DIHYDROCHLORIDE PAH

Interaction Score: 12.37

Interaction Types & Directionality:

activator (activating)

Interaction Info:

Mechanism of Interaction Phenylalanine-4-hydroxylase activator

Direct Interaction yes

PMIDs:
None found

Sources:
ChemblInteractions
SAPROPTERIN PAH

Interaction Score: 6.18

Interaction Types & Directionality:

n/a

Interaction Info:

Trial Name Sapropterin

Novel drug target Established target

PMIDs:
None found

Sources:
TdgClinicalTrial TEND

Ensembl: ENSG00000171759
- Version: 101_38
Alternate Names:

PAH Ensembl Gene Name

Gene Info:

Gene Biotype PROTEIN_CODING

Publications:
HopkinsGroom: P00439
- Version: 11-September-2012
Alternate Names:

P00439 Uniprot Accession

PH4H_HUMAN Uniprot Id

PAH Uniprot Gene Name

Gene Info:

Uniprot Evidence 1: Evidence at protein level

Interpro Acc IPR001273

Interpro Name Aromatic amino acid hydroxylase

Gene Categories:

DRUGGABLE GENOME

Publications:
RussLampel: ENSG00000171759
- Version: 26-July-2011
Alternate Names:

PAH Display Id

ENSG00000171759 Ensembl Gene Id

PHENYLALANINE-4-HYDROXYLASE (EC 1.14.16.1) (PAH) (PHE-4- MONOOXYGENASE). [SOURCE:UNIPROT/SWISSPROT;ACC:P00439] Description

Gene Info:

Human Readable Name DRUGGABLE GENOME

Gene Categories:

DRUGGABLE GENOME

Publications:
TEND: P00439
- Version: 01-August-2011
Alternate Names:

PAH Gene Symbol

PH4H_HUMAN Uniprot Id

5053 Entrez Gene Id

Gene Info:

Target Subclass 1.14.16.1

Target Main Class Enzymes

Publications:
TdgClinicalTrial: P00439
- Version: January-2014
Alternate Names:

PAH Gene Symbol

Gene Info:

Target Class Enzymes

Target Subclass EC:1.14.16.1

Publications:

PharmGKB: PAH

Version: 18-August-2020

Alternate Names:

PA32911 PharmGKB ID

Gene Info:

Publications:

Steventon GB et al., 2009, The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine., Mol Genet Metab

HingoraniCasas: ENSG00000171759
- Version: 31-May-2017
Alternate Names:

ENSG00000171759 Gene Symbol

PAH Ensembl Id

Gene Info:

Gene Categories:

DRUGGABLE GENOME

Publications:
ChemblInteractions: PAH
- Version: chembl_23
Alternate Names:

PAH GENE_SYMBOL

Phenylalanine-4-hydroxylase UNIPROT

Phe-4-monooxygenase UNIPROT

Gene Info:

Publications:
TTD: Phenylalanine hydroxylase
- Version: 2020.06.01
Alternate Names:

PAH TTD Gene Abbreviation

T76213 TTD Target ID

Gene Info:

Publications:
TTD: Pancreatic hormone
- Version: 2020.06.01
Alternate Names:

PH TTD Gene Abbreviation

T35303 TTD Target ID

Gene Info:

Publications:
Pharos: PAH
- Version: 01-February-2022
Alternate Names:

Phenylalanine-4-hydroxylase Gene Name

P00439 UniProt ID

Gene Info:

Gene Categories:

ENZYME

Publications:

Mechanism of Interaction	Phenylalanine-4-hydroxylase activator
Direct Interaction	yes

P00439	Uniprot Accession
PH4H_HUMAN	Uniprot Id
PAH	Uniprot Gene Name

PAH	Display Id
ENSG00000171759	Ensembl Gene Id
PHENYLALANINE-4-HYDROXYLASE (EC 1.14.16.1) (PAH) (PHE-4- MONOOXYGENASE). [SOURCE:UNIPROT/SWISSPROT;ACC:P00439]	Description

PAH	GENE_SYMBOL
Phenylalanine-4-hydroxylase	UNIPROT
Phe-4-monooxygenase	UNIPROT

activator (activating)
cofactor (activating)

Trial Name	-
Novel drug target	Established target

Trial Name	Sapropterin
Novel drug target	Established target

PAH Gene Record

PAH 5053 Druggable Genome

Alternate Names:

Gene Info:

Gene Categories: Category Details

Publications:

SAPROPTERIN PAH

Interaction Types & Directionality: activator (activating) cofactor (activating)

Interaction Info: Trial Name - Novel drug target Established target

PMIDs: 10089284 10839989 11163771 10924272 10872454

Sources: TdgClinicalTrial TEND

CARBOCYSTEINE PAH

Interaction Types & Directionality: n/a

Interaction Info:

PMIDs: 19036622

Sources: PharmGKB

PEGVALIASE PAH

Interaction Types & Directionality: n/a

Interaction Info:

PMIDs: None found

Sources: TTD

SAPROPTERIN DIHYDROCHLORIDE PAH

Interaction Types & Directionality: activator (activating)

Interaction Info: Mechanism of Interaction Phenylalanine-4-hydroxylase activator Direct Interaction yes

PMIDs: None found

Sources: ChemblInteractions

SAPROPTERIN PAH

Interaction Types & Directionality: n/a

Interaction Info: Trial Name Sapropterin Novel drug target Established target

PMIDs: None found

Sources: TdgClinicalTrial TEND

Ensembl: ENSG00000171759

Alternate Names: PAH Ensembl Gene Name

Gene Info: Gene Biotype PROTEIN_CODING

Publications:

HopkinsGroom: P00439

Alternate Names: P00439 Uniprot Accession PH4H_HUMAN Uniprot Id PAH Uniprot Gene Name

Gene Info: Uniprot Evidence 1: Evidence at protein level Interpro Acc IPR001273 Interpro Name Aromatic amino acid hydroxylase

Gene Categories: DRUGGABLE GENOME

Publications:

RussLampel: ENSG00000171759

Alternate Names: PAH Display Id ENSG00000171759 Ensembl Gene Id PHENYLALANINE-4-HYDROXYLASE (EC 1.14.16.1) (PAH) (PHE-4- MONOOXYGENASE). [SOURCE:UNIPROT/SWISSPROT;ACC:P00439] Description

Gene Info: Human Readable Name DRUGGABLE GENOME

Gene Categories: DRUGGABLE GENOME

Publications:

TEND: P00439

Alternate Names: PAH Gene Symbol PH4H_HUMAN Uniprot Id 5053 Entrez Gene Id

Gene Info: Target Subclass 1.14.16.1 Target Main Class Enzymes

Publications:

TdgClinicalTrial: P00439

Alternate Names: PAH Gene Symbol

Gene Info: Target Class Enzymes Target Subclass EC:1.14.16.1

Publications:

PharmGKB: PAH

Alternate Names: PA32911 PharmGKB ID

Gene Info:

Publications: Steventon GB et al., 2009, The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine., Mol Genet Metab

HingoraniCasas: ENSG00000171759

Alternate Names: ENSG00000171759 Gene Symbol PAH Ensembl Id

Gene Info:

Gene Categories: DRUGGABLE GENOME

Publications:

ChemblInteractions: PAH

Alternate Names: PAH GENE_SYMBOL Phenylalanine-4-hydroxylase UNIPROT Phe-4-monooxygenase UNIPROT

Gene Info:

Publications:

TTD: Phenylalanine hydroxylase

Alternate Names: PAH TTD Gene Abbreviation T76213 TTD Target ID

Gene Info:

Publications:

TTD: Pancreatic hormone

Alternate Names: PH TTD Gene Abbreviation T35303 TTD Target ID

Gene Info:

Publications:

Pharos: PAH

Alternate Names: Phenylalanine-4-hydroxylase Gene Name P00439 UniProt ID

Gene Info:

Gene Categories: ENZYME

Publications:

Interaction Types & Directionality:

activator (activating)

cofactor (activating)

Interaction Info:

Trial Name -

Novel drug target Established target

PMIDs:
10089284 10839989 11163771 10924272 10872454

Sources:
TdgClinicalTrial TEND

Interaction Types & Directionality:

n/a

PMIDs:
19036622

Sources:
PharmGKB

Interaction Types & Directionality:

n/a

PMIDs:
None found

Sources:
TTD

Interaction Types & Directionality:

activator (activating)

Interaction Info:

Mechanism of Interaction Phenylalanine-4-hydroxylase activator

Direct Interaction yes

PMIDs:
None found

Sources:
ChemblInteractions

Interaction Types & Directionality:

n/a

Interaction Info:

Trial Name Sapropterin

Novel drug target Established target

PMIDs:
None found

Sources:
TdgClinicalTrial TEND

Alternate Names:

PAH Ensembl Gene Name

Gene Info:

Gene Biotype PROTEIN_CODING

Alternate Names:

P00439 Uniprot Accession

PH4H_HUMAN Uniprot Id

PAH Uniprot Gene Name

Gene Info:

Uniprot Evidence 1: Evidence at protein level

Interpro Acc IPR001273

Interpro Name Aromatic amino acid hydroxylase

Gene Categories:

DRUGGABLE GENOME

Alternate Names:

PAH Display Id

ENSG00000171759 Ensembl Gene Id

PHENYLALANINE-4-HYDROXYLASE (EC 1.14.16.1) (PAH) (PHE-4- MONOOXYGENASE). [SOURCE:UNIPROT/SWISSPROT;ACC:P00439] Description

Gene Info:

Human Readable Name DRUGGABLE GENOME

Gene Categories:

DRUGGABLE GENOME

Alternate Names:

PAH Gene Symbol

PH4H_HUMAN Uniprot Id

5053 Entrez Gene Id

Gene Info:

Target Subclass 1.14.16.1

Target Main Class Enzymes

Alternate Names:

PAH Gene Symbol

Gene Info:

Target Class Enzymes

Target Subclass EC:1.14.16.1

Alternate Names:

PA32911 PharmGKB ID

Publications:

Steventon GB et al., 2009, The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine., Mol Genet Metab

Alternate Names:

ENSG00000171759 Gene Symbol

PAH Ensembl Id

Gene Categories:

DRUGGABLE GENOME

Alternate Names:

PAH GENE_SYMBOL

Phenylalanine-4-hydroxylase UNIPROT

Phe-4-monooxygenase UNIPROT

Alternate Names:

PAH TTD Gene Abbreviation

T76213 TTD Target ID

Alternate Names:

PH TTD Gene Abbreviation

T35303 TTD Target ID

Alternate Names:

Phenylalanine-4-hydroxylase Gene Name

P00439 UniProt ID

Gene Categories:

ENZYME