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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes FDA approved drug targets Human disease related genes Metabolic proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
12
Cytoband
q23.2
Chromosome location (bp)
102836889 - 102958410
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Allosteric enzyme, Monooxygenase, Oxidoreductase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Phenylalanine catabolism
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Iron, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Ezkurdia et al 2014)
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GO:0004497[monooxygenase activity] GO:0004505[phenylalanine 4-monooxygenase activity] GO:0005506[iron ion binding] GO:0006559[L-phenylalanine catabolic process] GO:0009072[aromatic amino acid family metabolic process] GO:0016491[oxidoreductase activity] GO:0016714[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen] GO:0019293[tyrosine biosynthetic process, by oxidation of phenylalanine] GO:0046872[metal ion binding]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004497[monooxygenase activity] GO:0005506[iron ion binding] GO:0009072[aromatic amino acid family metabolic process]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004497[monooxygenase activity] GO:0005506[iron ion binding] GO:0009072[aromatic amino acid family metabolic process] GO:0016491[oxidoreductase activity] GO:0016714[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen] GO:0046872[metal ion binding]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004497[monooxygenase activity] GO:0005506[iron ion binding] GO:0009072[aromatic amino acid family metabolic process] GO:0016714[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen]
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0003824[catalytic activity] GO:0004497[monooxygenase activity] GO:0004505[phenylalanine 4-monooxygenase activity] GO:0005506[iron ion binding] GO:0005829[cytosol] GO:0006559[L-phenylalanine catabolic process] GO:0006571[tyrosine biosynthetic process] GO:0008152[metabolic process] GO:0008652[cellular amino acid biosynthetic process] GO:0009072[aromatic amino acid family metabolic process] GO:0016491[oxidoreductase activity] GO:0016714[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen] GO:0019293[tyrosine biosynthetic process, by oxidation of phenylalanine] GO:0042136[neurotransmitter biosynthetic process] GO:0042423[catecholamine biosynthetic process] GO:0046872[metal ion binding]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004497[monooxygenase activity] GO:0005506[iron ion binding] GO:0009072[aromatic amino acid family metabolic process] GO:0016491[oxidoreductase activity] GO:0016714[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen] GO:0046872[metal ion binding]
The Human Protein Atlas project is funded
