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HUMAN:PH4H
Contents
| Species (Taxon ID) | Homo sapiens (Human). (9606) | |
| Gene Name(s) | PAH | |
| Protein Name(s) | Phenylalanine-4-hydroxylase
PAH Phe-4-monooxygenase | |
| External Links | ||
| UniProt | P00439 | |
| EMBL | K03020 U49897 S61296 BC026251 | |
| CCDS | CCDS9092.1 | |
| PIR | A00508 | |
| RefSeq | NP_000268.1 | |
| UniGene | Hs.603740 | |
| PDB | 1DMW 1J8T 1J8U 1KW0 1LRM 1MMK 1MMT 1PAH 1TDW 1TG2 2PAH 3PAH 4ANP 4PAH 5PAH 6PAH | |
| PDBsum | 1DMW 1J8T 1J8U 1KW0 1LRM 1MMK 1MMT 1PAH 1TDW 1TG2 2PAH 3PAH 4ANP 4PAH 5PAH 6PAH | |
| ProteinModelPortal | P00439 | |
| SMR | P00439 | |
| BioGrid | 111090 | |
| DIP | DIP-58927N | |
| IntAct | P00439 | |
| STRING | 9606.ENSP00000303500 | |
| BindingDB | P00439 | |
| ChEMBL | CHEMBL3076 | |
| DrugBank | DB06262 DB00668 DB00120 DB00368 DB00360 | |
| GuidetoPHARMACOLOGY | 1240 | |
| PhosphoSite | P00439 | |
| DMDM | 129973 | |
| UCD-2DPAGE | P00439 | |
| MaxQB | P00439 | |
| PaxDb | P00439 | |
| PRIDE | P00439 | |
| DNASU | 5053 | |
| Ensembl | ENST00000553106 | |
| GeneID | 5053 | |
| KEGG | hsa:5053 | |
| UCSC | uc001tjq.1 | |
| CTD | 5053 | |
| GeneCards | GC12M103230 | |
| GeneReviews | PAH | |
| HGNC | HGNC:8582 | |
| HPA | HPA028407 HPA031642 | |
| MIM | 261600 612349 | |
| neXtProt | NX_P00439 | |
| Orphanet | 79254 2209 79651 79253 293284 | |
| PharmGKB | PA32911 | |
| eggNOG | COG3186 | |
| GeneTree | ENSGT00390000010268 | |
| HOGENOM | HOG000233373 | |
| HOVERGEN | HBG006841 | |
| InParanoid | P00439 | |
| KO | K00500 | |
| OMA | TITEFQP | |
| OrthoDB | EOG7KM5T1 | |
| PhylomeDB | P00439 | |
| TreeFam | TF313327 | |
| BioCyc | MetaCyc:HS10374-MONOMER | |
| BRENDA | 1.14.16.1 | |
| Reactome | REACT_121117 REACT_1786 | |
| SABIO-RK | P00439 | |
| UniPathway | UPA00139 | |
| EvolutionaryTrace | P00439 | |
| GeneWiki | Phenylalanine_hydroxylase | |
| GenomeRNAi | 5053 | |
| NextBio | 19476 | |
| PRO | PR:P00439 | |
| Proteomes | UP000005640 | |
| Bgee | P00439 | |
| CleanEx | HS_PAH | |
| ExpressionAtlas | P00439 | |
| Genevestigator | P00439 | |
| GO | GO:0005829 GO:0070062 GO:0016597 GO:0005506 GO:0004505 GO:0042423 GO:0008652 GO:0034641 GO:0006559 GO:0042136 GO:0044281 | |
| Gene3D | 1.10.800.10 | |
| InterPro | IPR002912 IPR001273 IPR018301 IPR019774 IPR005961 IPR019773 | |
| PANTHER | PTHR11473 | |
| Pfam | PF01842 PF00351 | |
| PIRSF | PIRSF000336 | |
| PRINTS | PR00372 | |
| SUPFAM | SSF56534 | |
| TIGRFAMs | TIGR01268 | |
| PROSITE | PS51671 PS00367 PS51410 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|---|---|
|
enables |
GO:0004505 |
phenylalanine 4-monooxygenase activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0042423 |
catecholamine biosynthetic process |
ECO:0000303 |
author statement without traceable support used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0042136 |
neurotransmitter biosynthetic process |
ECO:0000303 |
author statement without traceable support used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0006571 |
tyrosine biosynthetic process |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000895564 |
P |
Seeded From UniProt |
complete | ||
|
enables |
GO:0004505 |
phenylalanine 4-monooxygenase activity |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
FB:FBgn0001208 |
F |
Seeded From UniProt |
complete | ||
|
enables |
GO:0004505 |
phenylalanine 4-monooxygenase activity |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P16331 |
F |
Seeded From UniProt |
complete | ||
| GO:0004505 |
phenylalanine 4-monooxygenase activity |
ECO:0000314 |
F |
Figure 1- Shows measurements of PAH activity based on different levels of substrate and cofactors. |
complete | |||||
|
enables |
GO:0004497 |
monooxygenase activity |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
| GO:0006559 |
L-phenylalanine catabolic process |
ECO:0000269 |
P |
the disruption oh phenylalanine hydroxylase is seen to cause PKU. Several gene mutations can be traced back to this problem |
complete | |||||
|
enables |
GO:0004505 |
phenylalanine 4-monooxygenase activity |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
enables |
GO:0005506 |
iron ion binding |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0006559 |
L-phenylalanine catabolic process |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0009072 |
aromatic amino acid family metabolic process |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
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 |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0055114 |
oxidation-reduction process |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
InterPro:IPR001273 |
P |
Seeded From UniProt |
complete | ||
|
enables |
GO:0004505 |
phenylalanine 4-monooxygenase activity |
ECO:0000501 |
evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0008652 |
cellular amino acid biosynthetic process |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0004505 |
phenylalanine 4-monooxygenase activity |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0006559 |
L-phenylalanine catabolic process |
Reactome:R-HSA-71182 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005829 |
cytosol |
Reactome:R-HSA-71118 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
C |
Seeded From UniProt |
complete | ||
|
enables |
GO:0003824 |
catalytic activity |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0006559 |
L-phenylalanine catabolic process |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
UniProtKB-KW:KW-0585 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0008152 |
metabolic process |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0016491 |
oxidoreductase activity |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0055114 |
oxidation-reduction process |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0046872 |
metal ion binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
enables |
GO:0004497 |
monooxygenase activity |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 Gersting, SW et al. (2010) Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor. J. Biol. Chem. 285 30686-97 PubMed GONUTS page
- ↑ 2.0 2.1 Craig, SP et al. (1986) Localization of the human tyrosine hydroxylase gene to 11p15: gene duplication and evolution of metabolic pathways. Cytogenet. Cell Genet. 42 29-32 PubMed GONUTS page
- ↑ 3.0 3.1 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
- ↑ Zhou, YA et al. (2012) Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China. Genet. Mol. Biol. 35 709-13 PubMed GONUTS page
- ↑ 5.0 5.1 Ledley, FD et al. (1985) Gene transfer and expression of human phenylalanine hydroxylase. Science 228 77-9 PubMed GONUTS page
c
m
o
- GO:0042136 ! obsolete neurotransmitter biosynthetic process
- GO:0055114 ! obsolete oxidation-reduction 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
