PAH

GENERAL INFORMATION

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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

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (gallbladder, kidney, liver)
GTEx:Tissue enriched (liver)

Protein evidence

Evidence at protein level

Protein localization

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

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA028407 , HPA031642
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Gallbladder

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (gallbladder, kidney, liver)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (liver)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

5053

UniProt

P00439 (UniProt - Evidence at protein level)

neXtProt

NX_P00439

Antibodypedia

PAH antibodies


PROTEIN BROWSER

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ENST00000307000
 
ENST00000546844
 
ENST00000551337
 
ENST00000553106
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PAH-001 ENSP00000448059
ENST00000553106
P00439
Show all »
Show » Show » 452 51.9 No 0
PAH-002 ENSP00000303500
ENST00000307000
J3KND8
Show all »
Show » Show » 447 51.4 No 0
PAH-005 ENSP00000447620
ENST00000551337
F8W0A0
Show all »
Show » Show » 136 15.6 No 0
PAH-009 ENSP00000446658
ENST00000546844
F8W1D4
Show all »
Show » Show » 117 13.3 No 0