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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| 4-hydroxyphenylpyruvate dioxygenase | MIM:609695 | Ensembl:ENSG00000158104 | HGNC:HGNC:5147 | PA29420 | 12q24.31 |
Gene Categories:
DRUGGABLE GENOMEGO terms in HPD
| 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 |
| CC | TAS | GO:0005829 | cytosol |
| CC | HDA | GO:0070062 | extracellular exosome |
| BP | IEA | GO:0006559 | L-phenylalanine catabolic process |
| BP | TAS | GO:0006559 | L-phenylalanine catabolic process |
| BP | IBA | GO:0006572 | tyrosine catabolic process |
| BP | ISS | GO:0006572 | tyrosine catabolic process |
| BP | IEA | GO:0055114 | oxidation-reduction process |
Gene expression in normal tissue: HPD
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HPD
| 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 |
| smpdb | SMP00169 | Alkaptonuria |
| smpdb | SMP00190 | Hawkinsinuria |
| smpdb | SMP00206 | Phenylketonuria |
| smpdb | SMP00218 | Tyrosinemia Type I |
| smpdb | SMP00369 | Tyrosinemia Type 2 (or Richner-Hanhart syndrome) |
| smpdb | SMP00370 | Tyrosinemia Type 3 (TYRO3) |
| smpdb | SMP00429 | Disulfiram Action Pathway |
| smpdb | SMP00494 | Tyrosinemia, transient, of the newborn |
| smpdb | SMP00498 | Dopamine beta-hydroxylase deficiency |
| smpdb | SMP00533 | Monoamine oxidase-a deficiency (MAO-A) |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-6788656 | Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism |
| reactome | R-HSA-71182 | Phenylalanine and tyrosine catabolism |
| reactome | R-HSA-71291 | Metabolism of amino acids and derivatives |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HPD
CLASSFICATION
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