HPD (4-hydroxyphenylpyruvate dioxygenase)

2014-11-01  

Identity

HGNC
LOCATION
12q24.31
LOCUSID
ALIAS
4-HPPD,4HPPD,GLOD3,HPPDASE,PPD
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
239509022013The interactions in the carboxyl terminus of human 4-hydroxyphenylpyruvate dioxygenase are critical to mediate the conformation of the final helix and the tail to shield the active site for catalysis.3
269369692016The different catalytic roles of the metal-binding ligands in human 4-hydroxyphenylpyruvate dioxygenase.3
262261262016Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment.2
175601582007Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III.1
312779522019HPD overexpression predicts poor prognosis in breast cancer.0

Citation

Dessen P

HPD (4-hydroxyphenylpyruvate dioxygenase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64413/hpd