InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PAH

Summary

InnateDB Protein

IDBP-592364.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PAH

Protein Name

phenylalanine hydroxylase

Synonyms

PH; PKU; PKU1;

Species

Homo sapiens

Ensembl Protein

ENSP00000448059

InnateDB Gene

IDBG-53719 (PAH)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Disease Associations

Phenylketonuria (PKU) [MIM:261600]: Autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor. {ECO:0000269PubMed:10200057, ECO:0000269PubMed:10679941, ECO:0000269PubMed:11180595, ECO:0000269PubMed:11385716, ECO:0000269PubMed:11461196, ECO:0000269PubMed:12501224, ECO:0000269PubMed:1355066, ECO:0000269PubMed:1363837, ECO:0000269PubMed:1363838, ECO:0000269PubMed:1671810, ECO:0000269PubMed:1672290, ECO:0000269PubMed:1672294, ECO:0000269PubMed:1679030, ECO:0000269PubMed:1709636, ECO:0000269PubMed:1975559, ECO:0000269PubMed:2014802, ECO:0000269PubMed:22513348, ECO:0000269PubMed:22526846, ECO:0000269PubMed:23792259, ECO:0000269PubMed:2564729, ECO:0000269PubMed:2615649, ECO:0000269PubMed:2840952, ECO:0000269PubMed:7833954, ECO:0000269PubMed:8068076, ECO:0000269PubMed:8406445, ECO:0000269PubMed:8889590, ECO:0000269PubMed:9048935, ECO:0000269PubMed:9101291, ECO:0000269PubMed:9452061, ECO:0000269PubMed:9452062, ECO:0000269PubMed:9521426, ECO:0000269PubMed:9600453, ECO:0000269PubMed:9792407, ECO:0000269PubMed:9950317}. Note=The disease is caused by mutations affecting the gene represented in this entry.Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]: Mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one. Note=The disease is caused by mutations affecting the gene represented in this entry.Hyperphenylalaninemia (HPA) [MIM:261600]: Mildest form of phenylalanine hydroxylase deficiency. {ECO:0000269PubMed:11385716, ECO:0000269PubMed:11935335, ECO:0000269PubMed:12501224, ECO:0000269PubMed:1358789, ECO:0000269PubMed:23792259, ECO:0000269PubMed:8088845, ECO:0000269PubMed:8098245, ECO:0000269PubMed:9521426, ECO:0000269PubMed:9852673}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004505	phenylalanine 4-monooxygenase activity
GO:0005506	iron ion binding
GO:0016597	amino acid binding
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

Biological Process

GO:0006559	L-phenylalanine catabolic process
GO:0008152	metabolic process
GO:0008652	cellular amino acid biosynthetic process
GO:0009072	aromatic amino acid family metabolic process
GO:0034641	cellular nitrogen compound metabolic process
GO:0042136	neurotransmitter biosynthetic process
GO:0042423	catecholamine biosynthetic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005829	cytosol
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR002912 ACT domain
IPR005961 Phenylalanine-4-hydroxylase, tetrameric form
IPR019773 Tyrosine 3-monooxygenase-like
IPR019774 Aromatic amino acid hydroxylase, C-terminal

PFAM

PF01842
PF00351

PRINTS

PR00372

PIRSF

PIRSF000336

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt