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Details on Person UniProt:P00439 PAH
| Class:Id | ReferenceGeneProduct:61638 |
|---|---|
| _chainChangeLog | initiator methionine:1 added on Fri February 6 2015;chain:2-452 added on Fri February 6 2015 |
| _displayName | UniProt:P00439 PAH |
| _timestamp | 2025-02-21 20:02:30 |
| chain | chain:1-452 |
| checksum | 018F00EBBBDDCE2F |
| comment | FUNCTION Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.CATALYTIC ACTIVITY (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + L-phenylalanine + O2 = (4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin + L-tyrosineCOFACTOR N-terminal region of PAH is thought to contain allosteric binding sites for phenylalanine and to constitute an 'inhibitory' domain that regulates the activity of a catalytic domain in the C-terminal portion of the molecule.BIOPHYSICOCHEMICAL PROPERTIES Optimum temperature is 50 degrees Celsius.PATHWAY Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 1/6.SUBUNIT Homodimer and homotetramer.PTM Phosphorylation at Ser-16 increases basal activity and facilitates activation by the substrate phenylalanine.POLYMORPHISM The Glu-274 variant occurs on approximately 4% of African-American PAH alleles. The enzyme activity of the variant protein is indistinguishable from that of the wild-type form.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.ONLINE INFORMATION Phenylalanine Hydroxylase Gene Locus-Specific DatabaseONLINE INFORMATION Phenylalanine hydroxylase entry |
| description | recommendedName: Phenylalanine-4-hydroxylase shortName: PAH ecNumber evidence="22 24"1.14.16.1 alternativeName: Phe-4-monooxygenase |
| geneName | PAH |
| identifier | P00439 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Allosteric enzyme Direct protein sequencing Disease variant Iron Metal-binding Monooxygenase Oxidoreductase Phenylalanine catabolism Phenylketonuria Phosphoprotein Proteomics identification Reference proteome |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | PAH |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8989137] ENSEMBL:ENSG00000171759 PAH [Homo sapiens] |
| secondaryIdentifier | PH4H_HUMAN Q16717 Q8TC14 |
| sequenceLength | 452 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:71066] PAH [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:2160450] S40L-PAH [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5649486] PAH S40L [cytosol] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:2160460] L-serine 40 replaced with L-leucine |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:P00439 PAH (61638)
