HPD Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | HPD |
| Official Name | 4-hydroxyphenylpyruvate dioxygenase [Source:HGNC Symbol;Acc:HGNC:5147] |
| Ensembl ID | ENSG00000158104 |
| Bio databases IDs | |
| Aliases | 4-hydroxyphenylpyruvate dioxygenase, glyoxalase domain containing 3 |
| Synonyms | 4-HPPD, 4-hydroxyphenylpyruvate dioxygenase, 4-hydroxyphenylpyruvic acid dioxygenase, FLA, Flp, GLOD3, HPPD, HPPDASE, Laf, PPD |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HPD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glyoxalase I/type I extradiol dioxygenase/antibiotic resistance protein metal-binding domain
- protein homodimerization
- 4-hydroxyphenylpyruvate dioxygenase
- iron ion binding
- enzyme
- protein binding
- Glyoxalase/Bleomycin resistance protein/Dioxygenase superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- neoplasia
- tyrosinemia type I
- hepatocellular carcinoma
- alkaptonuria
- hepatitis B virus-related hepatocellular carcinoma
- liver cancer
- hawkinsinuria
- type III tyrosinemia
- cholangiocarcinoma
role in cell
- expression in
- proliferative capacity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum membrane
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HPD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- L-phenylalanine catabolic process
- tyrosine catabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- extracellular vesicular exosome
- cytosol
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- protein homodimerization activity
- metal ion binding
- 4-hydroxyphenylpyruvate dioxygenase activity