Cell atlas - PAH - The Human Protein Atlas

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PAH

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TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Endoplasmic reticulum
	Vesicles

Human cell
	Endoplasmic Reticulum
	Vesicles

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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
Summary	Localized to the endoplasmic reticulum & vesicles.
RNA cell category	Cell line enriched (Hep G2)
Protein evidence	Evidence at protein level
Main location	Localized to the Endoplasmic reticulum (approved), Vesicles (approved)
Single-cell variation	Single-cell variation in protein expression observed.

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA028407
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enriched (Hep G2) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the endoplasmic reticulum & vesicles.

Main location

Endoplasmic reticulum (approved), Vesicles (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA028407	CACO-2	Vesicles
	HPA028407	Hep G2	Endoplasmic reticulum	Intensity
	HPA028407	U-2 OS	Vesicles

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 Show all	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) Show all	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] Show all	452 aa 51.9 kDa	No	0
PAH-002 ENSP00000303500 ENST00000307000	J3KND8 [Direct mapping] Phenylalanine-4-hydroxylase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	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] Show all	447 aa 51.4 kDa	No	0
PAH-005 ENSP00000447620 ENST00000551337	F8W0A0 [Direct mapping] Phenylalanine-4-hydroxylase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	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] Show all	136 aa 15.6 kDa	No	0
PAH-009 ENSP00000446658 ENST00000546844	F8W1D4 [Direct mapping] Phenylalanine-4-hydroxylase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	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] Show all	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] Show all	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

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The Project

The Human Protein Atlas

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