HPD (4-hydroxyphenylpyruvate dioxygenase)

2014-11-01  

Identity

HGNC
HPD
LOCATION
12q24.31
LOCUSID
3242
ALIAS
4-HPPD,4HPPD,GLOD3,HPPDASE,PPD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3242
MIM: 609695
HGNC: 5147
Ensembl: ENSG00000158104

Variants:

dbSNP: 3242
ClinVar: 3242
TCGA: ENSG00000158104
COSMIC: HPD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158104ENST00000289004A0A0B4J1R4
ENSG00000158104ENST00000543163P32754

Expression (GTEx)

0
500
1000
1500
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
Ubiquinone and other terpenoid-quinone biosynthesisKEGGko00130
Tyrosine metabolismKEGGko00350
Phenylalanine metabolismKEGGko00360
Ubiquinone and other terpenoid-quinone biosynthesisKEGGhsa00130
Tyrosine metabolismKEGGhsa00350
Phenylalanine metabolismKEGGhsa00360
Metabolic pathwaysKEGGhsa01100
Tyrosine degradation, tyrosine => homogentisateKEGGM00044
Tyrosine degradation, tyrosine => homogentisateKEGGhsa_M00044
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
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
344712902021The polar oxy-metabolome reveals the 4-hydroxymandelate CoQ10 synthesis pathway.15
344712902021The polar oxy-metabolome reveals the 4-hydroxymandelate CoQ10 synthesis pathway.15
317224282020Role of the N-terminus in human 4-hydroxyphenylpyruvate dioxygenase activity.0
321092082020Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS).3
328918222020Tyrosine metabolic enzyme HPD is decreased and predicts unfavorable outcomes in hepatocellular carcinoma.3
317224282020Role of the N-terminus in human 4-hydroxyphenylpyruvate dioxygenase activity.0
321092082020Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS).3
328918222020Tyrosine metabolic enzyme HPD is decreased and predicts unfavorable outcomes in hepatocellular carcinoma.3
312779522019HPD overexpression predicts poor prognosis in breast cancer.3
3128542020194-hydroxyphenylpyruvate dioxygenase promotes lung cancer growth via pentose phosphate pathway (PPP) flux mediated by LKB1-AMPK/HDAC10/G6PD axis.29
312779522019HPD overexpression predicts poor prognosis in breast cancer.3
3128542020194-hydroxyphenylpyruvate dioxygenase promotes lung cancer growth via pentose phosphate pathway (PPP) flux mediated by LKB1-AMPK/HDAC10/G6PD axis.29
262261262016Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment.4
269369692016The different catalytic roles of the metal-binding ligands in human 4-hydroxyphenylpyruvate dioxygenase.4
262261262016Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment.4

Citation

Dessen P

HPD (4-hydroxyphenylpyruvate dioxygenase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64413/css/tumors-explorer/js/lib/meetings/