Reactome | UniProt:P00439 PAH

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UniProt:P00439 PAH Show undefined attributes

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
crossReference	[DatabaseIdentifier:11452822] ENSEMBL:ENSG00000171759 [DatabaseIdentifier:12817457] ZINC target:P00439 [DatabaseIdentifier:12814024] ZINC - Substances:PH4H_HUMAN [DatabaseIdentifier:12810569] ZINC - Predictions - Purchasable:PH4H_HUMAN [DatabaseIdentifier:11542593] ENSEMBL:ENSP00000448059 [DatabaseIdentifier:11665292] ENSEMBL:ENST00000553106 [DatabaseIdentifier:11781021] Guide to Pharmacology - Targets:1240 [DatabaseIdentifier:11789074] GeneCards:PAH [DatabaseIdentifier:11834184] HMDB Protein:HMDBP00280 [DatabaseIdentifier:11842100] HPA:ENSG00000171759-PAH [DatabaseIdentifier:12126694] OpenTargets:ENSG00000171759 [DatabaseIdentifier:12137952] Orphanet:PAH [DatabaseIdentifier:12188660] PDB:1TDW [DatabaseIdentifier:12188659] PDB:1LRM [DatabaseIdentifier:12188661] PDB:1J8T [DatabaseIdentifier:12188658] PDB:1J8U [DatabaseIdentifier:12188667] PDB:6N1K [DatabaseIdentifier:12188662] PDB:1KW0 [DatabaseIdentifier:12188664] PDB:5FII [DatabaseIdentifier:12188668] PDB:1MMK [DatabaseIdentifier:12188665] PDB:6HPO [DatabaseIdentifier:12188666] PDB:1DMW [DatabaseIdentifier:12188663] PDB:6HYC [DatabaseIdentifier:12188675] PDB:4PAH [DatabaseIdentifier:12188672] PDB:4ANP [DatabaseIdentifier:12188673] PDB:6PAH [DatabaseIdentifier:12188670] PDB:2PAH [DatabaseIdentifier:12188669] PDB:1PAH [DatabaseIdentifier:12188676] PDB:5PAH [DatabaseIdentifier:12188671] PDB:1MMT [DatabaseIdentifier:12188674] PDB:1TG2 [DatabaseIdentifier:12188677] PDB:3PAH [DatabaseIdentifier:12247012] PRO:P00439 [DatabaseIdentifier:12286948] Pharos - Targets:P00439 [DatabaseIdentifier:12325410] RefSeq:NP_001341233.1 [DatabaseIdentifier:12325409] RefSeq:NP_000268.1
databaseName	UniProt
dbId	61638
description	recommendedName: Phenylalanine-4-hydroxylase shortName: PAH ecNumber evidence="22 24"1.14.16.1 alternativeName: Phe-4-monooxygenase
displayName	UniProt:P00439 PAH
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:9939033] Weiser, Joel, 2025-02-21
moleculeType	Protein
name	PAH
otherIdentifier	11744206_at 11753066_a_at 11762826_at 16769270 205719_PM_s_at 205719_s_at 217583_PM_at 217583_at 242375_PM_x_at 242375_x_at 33701_at 3468477 3468478 3468479 3468480 3468481 3468482 3468483 3468484 3468485 3468486 3468492 3468493 3468494 3468495 3468497 3468498 3468499 3468501 3468502 3468503 3468504 3468506 3468510 3468511 3468522 3468531 3468532 3468533 3468534 3468535 3468541 3468549 3468563 3468564 3468565 3468566 4052199 4052253 4053714 4053716 4053717 4053718 4053738 42519_at 5053 7965884 82891_at A_21_P0007889 A_23_P2501 A_32_P226169 GE59205 GO:0003824 GO:0004497 GO:0004505 GO:0005506 GO:0005829 GO:0006520 GO:0006559 GO:0006571 GO:0008652 GO:0009072 GO:0016491 GO:0016714 GO:0019293 GO:0042423 GO:0046872 HMNXSV003030020 HMNXSV003038266 HMNXSV003045436 Hs.297257.0.A1_3p_at ILMN_1662214 ILMN_1824490 ILMN_2218104 L47726_at PH_hs_0023809 TC12001892.hg TC12003049.hg g4557818_3p_s_at p18681
physicalEntity	[EntityWithAccessionedSequence:R-HSA-71066] PAH [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5649486] PAH S40L [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000171759] ENSEMBL:ENSG00000171759 PAH [ReferenceDNASequence:12726584] UCSC:P00439 PAH [ReferenceDNASequence:11317978] BioGPS Gene:5053 PAH [ReferenceDNASequence:11397954] COSMIC - genes:PAH PAH [ReferenceDNASequence:11415607] CTD Gene:5053 PAH [ReferenceDNASequence:11434717] dbSNP Gene:5053 PAH [ReferenceDNASequence:11820726] HGNC:8582 PAH [ReferenceDNASequence:11861116] KEGG:hsa:5053 PAH [ReferenceDNASequence:11947767] Monarch:5053 PAH [ReferenceDNASequence:12031860] NCBI Gene:5053 PAH [ReferenceDNASequence:12111663] OMIM:612349 PAH
referenceTranscript	[ReferenceRNASequence:12507344] RefSeq:NM_000277.3 PAH [ReferenceRNASequence:12507345] RefSeq:NM_001354304.2 PAH
schemaClass	ReferenceGeneProduct
secondaryIdentifier	PH4H_HUMAN Q16717 Q8TC14
sequenceLength	452
species	[Species:48887] Homo sapiens
stId	uniprot:P00439
url	http://purl.uniprot.org/uniprot/P00439

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-71066] PAH [cytosol] [EntityWithAccessionedSequence:R-HSA-5649486] PAH S40L [cytosol]
(referenceSequence)	[ReplacedResidue:2160460] L-serine 40 replaced with L-leucine