Entity Details

Primary name HPPD_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP32754
EntryNameHPPD_HUMAN
FullName4-hydroxyphenylpyruvate dioxygenase
TaxID9606
Evidenceevidence at protein level
Length393
SequenceStatuscomplete
DateCreated1993-10-01
DateModified2021-06-02

Ontological Relatives

GenesHPD

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0003868 4-hydroxyphenylpyruvate dioxygenase activity
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0006559 L-phenylalanine catabolic process
GO:0006572 tyrosine catabolic process
GO:0046872 metal ion binding
GO:0070062 extracellular exosome

Subcellular Location

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Domains

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DomainNameCategoryType
IPR004360 Glyoxalase/fosfomycin resistance/dioxygenase domainDomainDomain
IPR005956 4-hydroxyphenylpyruvate dioxygenaseFamilyFamily
IPR029068 Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenaseFamilyHomologous superfamily
IPR037523 Vicinal oxygen chelate (VOC) domainDomainDomain
IPR041735 4-hydroxyphenylpyruvate dioxygenase, C-terminalDomainDomain
IPR041736 4-hydroxyphenylpyruvate dioxygenase, N-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
140350 OMIMHawkinsinuria (HAWK)An inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine. The disease is caused by variants affecting the gene represented in this entry.
276710 OMIMTyrosinemia 3 (TYRSN3)An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00348 NitisinoneDrugbanksmall molecule
DB02850 DAS869Drugbanksmall molecule