HPD

Summary: The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
Name4-hydroxyphenylpyruvate dioxygenase
OMIM IDMIM:609695
Ensembl IDEnsembl:ENSG00000158104
HGNC IDHGNC:HGNC:5147
PHARMGKB IDPA29420
Map Location12q24.31

Gene Categories:

DRUGGABLE GENOME

GO terms in HPD


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Term Type
Evidence Type
GO Term ID
GO Des.
MF EXP GO:0003868 4-hydroxyphenylpyruvate dioxygenase activity
MF IBA GO:0003868 4-hydroxyphenylpyruvate dioxygenase activity
MF ISS GO:0003868 4-hydroxyphenylpyruvate dioxygenase activity
MF IEA GO:0046872 metal ion binding
CC IBA GO:0000139 Golgi membrane
CC IBA GO:0005789 endoplasmic reticulum membrane
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Gene expression in normal tissue: HPD

16 tissues mixtureadiposeadrenalbrainbreastcolonheartkidneyliverlunglymph nodeovaryprostateskeletal muscletestesthyroidwhite blood cells

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 1

Gene-drug pathway distribution

Protein stability and degradation1

Pathways in HPD


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Database
Pathway ID
Pathway Des.
humancyc TYRFUMCAT-PWY tyrosine degradation
kegg hsa00130 Ubiquinone and other terpenoid-quinone biosynthesis - Homo sapiens (human)
kegg hsa00350 Tyrosine metabolism - Homo sapiens (human)
kegg hsa00360 Phenylalanine metabolism - Homo sapiens (human)
smpdb SMP00006 Tyrosine Metabolism
smpdb SMP00008 Phenylalanine and Tyrosine Metabolism
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD309 17AAG 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in HPD

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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