PAH (phenylalanine hydroxylase)

2014-11-01  

Identity

HGNC
PAH
LOCATION
12q23.2
LOCUSID
5053
ALIAS
PH,PKU,PKU1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5053
MIM: 612349
HGNC: 8582
Ensembl: ENSG00000171759

Variants:

dbSNP: 5053
ClinVar: 5053
TCGA: ENSG00000171759
COSMIC: PAH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171759ENST00000307000J3KND8
ENSG00000171759ENST00000546844F8W1D4
ENSG00000171759ENST00000550978A0A0U1RQI3
ENSG00000171759ENST00000551337F8W0A0
ENSG00000171759ENST00000553106P00439
ENSG00000171759ENST00000553106A0A024RBG4
ENSG00000171759ENST00000635477A0A0U1RQY4

Expression (GTEx)

0
50
100
150
200
250
300
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Phenylalanine metabolismKEGGko00360
Phenylalanine, tyrosine and tryptophan biosynthesisKEGGko00400
Phenylalanine metabolismKEGGhsa00360
Phenylalanine, tyrosine and tryptophan biosynthesisKEGGhsa00400
Metabolic pathwaysKEGGhsa01100
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Phenylalanine and tyrosine catabolismREACTOMER-HSA-71182
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166184060carbocisteineChemicalClinicalAnnotation, VariantAnnotationassociatedPK19036622
PA450931l-phenylalanineChemicalClinicalAnnotation, VariantAnnotationambiguousPK19036622

References

Pubmed IDYearTitleCitations
179243422007Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.42
1456853420032.0A resolution crystal structures of the ternary complexes of human phenylalanine hydroxylase catalytic domain with tetrahydrobiopterin and 3-(2-thienyl)-L-alanine or L-norleucine: substrate specificity and molecular motions related to substrate binding.37
117185612001High resolution crystal structures of the catalytic domain of human phenylalanine hydroxylase in its catalytically active Fe(II) form and binary complex with tetrahydrobiopterin.35
121266282002Crystal structure of the ternary complex of the catalytic domain of human phenylalanine hydroxylase with tetrahydrobiopterin and 3-(2-thienyl)-L-alanine, and its implications for the mechanism of catalysis and substrate activation.35
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
204680642010Association study of 182 candidate genes in anorexia nervosa.30
120568882002L-phenylalanine binding and domain organization in human phenylalanine hydroxylase: a differential scanning calorimetry study.29
232960882013A new model for allosteric regulation of phenylalanine hydroxylase: implications for disease and therapeutics.25
269196872016Genetics of Phenylketonuria: Then and Now.25
154599542004Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.22

Citation

Dessen P

PAH (phenylalanine hydroxylase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71633/pah-(phenylalanine-hydroxylase)