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PAH

GENERAL INFORMATION

Gene name

 PAH

Gene description

 Phenylalanine hydroxylase

Protein class

 Disease related genes
Enzymes
FDA approved drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 6
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Tissue enriched (liver cancer)
HPA (cell line):Cell line enriched (Hep G2)
HPA (normal tissue):Tissue enhanced (kidney, liver)

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Selective cytoplasmic expression in hepatocytes, proximal tubules in kidney and glandular cells in gallbladder.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA028407 , HPA031642
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PROGNOSTIC SUMMARY
Prognostic marker in liver cancer (favourable).
Liver cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Tissue enriched (liver cancer)

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA028407
HPA031642

GENE INFORMATION

Gene name

 PAH (HGNC Symbol)

Synonyms

 PH

Description

 Phenylalanine hydroxylase (HGNC Symbol)

Entrez gene summary

 PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008]

Chromosome

 12

Cytoband

 q23.2

Chromosome location (bp)

 102836885 - 102958410

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000171759 (version 83.38)

Entrez gene

 5053

UniProt

 P00439 (UniProt - Evidence at protein level)

neXtProt

 NX_P00439

Antibodypedia

 PAH antibodies

PROTEIN BROWSER
PAH-001
PAH-002
PAH-005
PAH-009
PAH-012
PAH-018

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PAH-001
ENSP00000448059
ENST00000553106
P00439 [Direct mapping]
Phenylalanine-4-hydroxylase
A0A024RBG4 [Target identity:100%; Query identity:100%]
Phenylalanine hydroxylase, isoform CRA_a
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Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted intracellular proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
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:0005829 [cytosol]
GO:0006558 [L-phenylalanine metabolic process]
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: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]
GO:0018126 [protein hydroxylation]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042136 [neurotransmitter biosynthetic process]
GO:0042423 [catecholamine biosynthetic process]
GO:0042558 [pteridine-containing compound metabolic process]
GO:0042803 [protein homodimerization activity]
GO:0044281 [small molecule metabolic process]
GO:0046146 [tetrahydrobiopterin metabolic process]
GO:0048037 [cofactor binding]
GO:0055114 [oxidation-reduction process]
GO:0070062 [extracellular exosome]
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 452 aa
51.9 kDa 		No 0
PAH-002
ENSP00000303500
ENST00000307000
J3KND8 [Direct mapping]
Phenylalanine-4-hydroxylase
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Predicted intracellular proteins
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:0008152 [metabolic process]
GO:0009072 [aromatic amino acid family metabolic process]
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]
GO:0055114 [oxidation-reduction process]
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 447 aa
51.4 kDa 		No 0
PAH-005
ENSP00000447620
ENST00000551337
F8W0A0 [Direct mapping]
Phenylalanine-4-hydroxylase
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005506 [iron ion binding]
GO:0008152 [metabolic process]
GO:0009072 [aromatic amino acid family metabolic process]
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]
GO:0055114 [oxidation-reduction process]
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 136 aa
15.6 kDa 		No 0
PAH-009
ENSP00000446658
ENST00000546844
F8W1D4 [Direct mapping]
Phenylalanine-4-hydroxylase
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0004497 [monooxygenase activity]
GO:0005506 [iron ion binding]
GO:0008152 [metabolic process]
GO:0009072 [aromatic amino acid family metabolic process]
GO:0016597 [amino acid binding]
GO:0055114 [oxidation-reduction process]
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 117 aa
13.3 kDa 		No 0
PAH-012
ENSP00000489016
ENST00000550978
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008152 [metabolic process]
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]
GO:0055114 [oxidation-reduction process]
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 149 aa
16.9 kDa 		No 0
PAH-018
ENSP00000489230
ENST00000635477
Predicted intracellular proteins
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]
GO:0055114 [oxidation-reduction process]
Show all
 144 aa
16.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.