PAH

Gene Information

Official Symbol: PAH
Official Name: phenylalanine hydroxylase
Aliases and Previous Symbols: N/A
Entrez ID: 5053
UniProt: P00439
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017].
UniProt Summary: N/A

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Essentiality in NALM6

Essentiality Rank: 16405
Expression level (log2 read counts): -2.31

Expression Distribution

ACT
Biopterin H

tyrosine biosynthetic process
aromatic amino acid family biosynthetic process, prephenate pathway
phenylalanine 4-monooxygenase activity
aromatic amino acid family biosynthetic process
tyrosine metabolic process
erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process
L-phenylalanine metabolic process
L-phenylalanine catabolic process
erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process
catechol-containing compound biosynthetic process
catecholamine biosynthetic process
aromatic amino acid family catabolic process
phenol-containing compound biosynthetic process
aromatic amino acid family metabolic process
neurotransmitter biosynthetic process
catecholamine metabolic process
catechol-containing compound metabolic process
alpha-amino acid biosynthetic process
cellular amino acid biosynthetic process
phenol-containing compound metabolic process
neurotransmitter metabolic process
alpha-amino acid catabolic process
cellular amino acid catabolic process
iron ion binding
drug catabolic process
organic hydroxy compound biosynthetic process
alpha-amino acid metabolic process
carboxylic acid catabolic process
organic acid catabolic process
carboxylic acid biosynthetic process
organic acid biosynthetic process
cellular amino acid metabolic process
regulation of neurotransmitter levels
small molecule catabolic process
aromatic compound catabolic process
organic hydroxy compound metabolic process
organic cyclic compound catabolic process
drug metabolic process
small molecule biosynthetic process
carboxylic acid metabolic process