Harmonizome 3.0

phenylalanine hydroxylase

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]

transfer RNA phenylalanine (anticodon GAA)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phenylalanine zipper protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term zipper in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GO Molecular Function Annotations 2015

genes performing the leucine zipper domain binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Leucine zipper protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Leucine zipper protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Neural retina-specific leucine zipper protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Basic helix-loop-helix leucine zipper transcrition factor MiT/TFE protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Basic-leucine zipper domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Leucine zipper transcription factor-like protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Basic leucine zipper transcriptional factor ATF-like 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Basic leucine zipper transcriptional factor ATF-like 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Basic leucine zipper domain, Maf-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the AATF leucine zipper-containing domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Basic leucine zipper transcriptional factor ATF-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Leucine zipper putative tumour suppressor 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Rogdi, leucine zipper-containing protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Spermatogenic leucine zipper protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Leucine zipper, Myc protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term zipper in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

From GO Molecular Function Annotations 2023

genes performing the leucine zipper domain binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2025

genes performing the leucine zipper domain binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical t-butyloxycarbonyl-methionyl-leucyl-phenylalanine from the curated CTD Gene-Chemical Interactions dataset.

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical chromium (D-Phenylalanine)3 from the curated CTD Gene-Chemical Interactions dataset.

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical formylmethionyl-leucyl-phenylalanine methyl ester from the curated CTD Gene-Chemical Interactions dataset.

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical alanyl-tyrosyl-prolyl-glycyl-lysyl-phenylalanine from the curated CTD Gene-Chemical Interactions dataset.

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical butyloxycarbonyl-phenylalanyl-leucyl-phenylalanyl-leucyl-phenylalanine from the curated CTD Gene-Chemical Interactions dataset.

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical N-Formylmethionine Leucyl-Phenylalanine from the curated CTD Gene-Chemical Interactions dataset.

From dbGAP Gene-Trait Associations

genes associated with the trait Phenylalanine in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

From DrugBank Drug Targets

interacting proteins for the 4-(2,2,2-TRIFLUOROETHYL)-L-PHENYLALANINE drug from the curated DrugBank Drug Targets dataset.

From DrugBank Drug Targets

interacting proteins for the D-[(Amino)Carbonyl]Phenylalanine drug from the curated DrugBank Drug Targets dataset.

From DrugBank Drug Targets

interacting proteins for the Nalpha-(2-Naphthylsulfonylglycyl)-3-Amidino-D,L-Phenylalanine-Isopropylester drug from the curated DrugBank Drug Targets dataset.

From DrugBank Drug Targets

interacting proteins for the (3r)-4-(P-Toluenesulfonyl)-1,4-Thiazane-3-Carboxylicacid-L-Phenylalanine Ethyl Ester drug from the curated DrugBank Drug Targets dataset.

From DrugBank Drug Targets

interacting proteins for the Phenylalanine-N-Sulfonamide drug from the curated DrugBank Drug Targets dataset.

From DrugBank Drug Targets

interacting proteins for the PARA-(BENZOYL)-PHENYLALANINE drug from the curated DrugBank Drug Targets dataset.

From DrugBank Drug Targets

interacting proteins for the L-[(N-Hydroxyamino)Carbonyl]Phenylalanine drug from the curated DrugBank Drug Targets dataset.

From DrugBank Drug Targets

interacting proteins for the [2,4,6-Triisopropyl-Phenylsulfonyl-L-[3-Amidino-Phenylalanine]]-Piperazine-N'-Beta-Alanine drug from the curated DrugBank Drug Targets dataset.

From DrugBank Drug Targets

interacting proteins for the D-Phenylalanine drug from the curated DrugBank Drug Targets dataset.

From DrugBank Drug Targets

interacting proteins for the N-(carboxycarbonyl)-D-phenylalanine drug from the curated DrugBank Drug Targets dataset.

From DrugBank Drug Targets

interacting proteins for the (R)—N[2-[1-(aminoiminomethyl)-3-piperidinyl]-1-oxoethyl]-4-(phenylethynyl)-l-phenylalanine methylester drug from the curated DrugBank Drug Targets dataset.

From DrugBank Drug Targets

interacting proteins for the Iodo-Phenylalanine drug from the curated DrugBank Drug Targets dataset.

From DrugBank Drug Targets

interacting proteins for the D-[(N-Hydroxyamino)Carbonyl]Phenylalanine drug from the curated DrugBank Drug Targets dataset.

From DrugBank Drug Targets

interacting proteins for the L-Phenylalanine drug from the curated DrugBank Drug Targets dataset.

From GAD Gene-Disease Associations

genes associated with the disease phenylalanine hydroxylase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease phenylalanine hydroxylase (pah) deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease phenylalanine in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term phenylalanine in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GO Biological Process Annotations 2015

genes participating in the l-phenylalanine metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the l-phenylalanine catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the l-phenylalanine:2-oxoglutarate aminotransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the l-phenylalanine:pyruvate aminotransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the l-phenylalanine aminotransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the l-phenylalanine-oxaloacetate transaminase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the phenylalanine-trna ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the phenylalanine 4-monooxygenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the D-phenylalanine ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

From HMDB Metabolites of Enzymes

interacting proteins for the N-Acetyl-L-phenylalanine metabolite from the curated HMDB Metabolites of Enzymes dataset.

From HMDB Metabolites of Enzymes

interacting proteins for the L-Phenylalanine metabolite from the curated HMDB Metabolites of Enzymes dataset.

From HPO Gene-Disease Associations

genes associated with the reduced phenylalanine hydroxylase activity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of phenylalanine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HumanCyc Pathways

proteins participating in the phenylalanine degradation/tyrosine biosynthesis pathway from the HumanCyc Pathways dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phenylalanine-tRNA ligase, beta subunit, ferrodoxin-fold anticodon-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phenylalanine/histidine ammonia-lyases, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamate/phenylalanine/leucine/valine dehydrogenase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phenylalanine-4-hydroxylase, tetrameric form protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From KEGG Pathways

proteins participating in the phenylalanine metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the phenylalanine tyrosine and tryptophan biosynthesis pathway from the KEGG Pathways dataset.

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term phenylalanine in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

From Reactome Pathways 2014

proteins participating in the Phenylalanine and tyrosine catabolism pathway from the Reactome Pathways dataset.

From DeepCoverMOA Drug Mechanisms of Action

proteins with high or low expression in L-Valyl-L-phenylalanine relative to other proteins from the DeepCoverMOA Drug Mechanisms of Action dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Blood Phenylalanine Measurement By Guthrie Microbiologic Assay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Reduced Phenylalanine Hydroxylase Activity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From GO Biological Process Annotations 2023

genes participating in the phenylalanine transport biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the L-phenylalanine catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the L-phenylalanine metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the phenylalanine-tRNA ligase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the phenylalanine 4-monooxygenase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the L-phenylalanine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased circulating phenylalanine level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased phenylalanine level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased circulating phenylalanine level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased phenylalanine level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MW Enzyme Metabolite Associations

interacting proteins for Phenylalanine metabolite from the MW Gene Metabolite Associations dataset.

From WikiPathways Pathways 2024

proteins participating in the Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine pathway from the WikiPathways Pathways 2024 dataset.

From Reactome Pathways 2024

proteins participating in the Phenylalanine and tyrosine metabolism pathway from the Reactome Pathways 2024 dataset.

From Reactome Pathways 2024

proteins participating in the Phenylalanine metabolism pathway from the Reactome Pathways 2024 dataset.

From GO Biological Process Annotations 2025

genes participating in the phenylalanine transport biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the L-phenylalanine catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the L-phenylalanine metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the phenylalanine-tRNA ligase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the phenylalanine 4-monooxygenase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the L-phenylalanine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the phenylalanine-tRNA ligase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the phenylalanine-tRNA ligase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From KEGG Pathways 2026

proteins participating in the Phenylalanine metabolism pathway from the KEGG Pathways 2026 dataset.

From KEGG Pathways 2026

proteins participating in the Phenylalanine, tyrosine and tryptophan biosynthesis pathway from the KEGG Pathways 2026 dataset.

From DGIdb Drug Targets 2026

interacting proteins for the PHENYLALANINE drug from theDGIdb Drug Targets 2026 dataset.

From DGIdb Drug Targets 2026

interacting proteins for the D-PHENYLALANINE drug from theDGIdb Drug Targets 2026 dataset.