Homo sapiens Gene: HPD
Summary
InnateDB Gene IDBG-62008.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HPD
Gene Name 4-hydroxyphenylpyruvate dioxygenase
Synonyms 4-HPPD; 4HPPD; GLOD3; HPPDASE; PPD
Species Homo sapiens
Ensembl Gene ENSG00000158104
Encoded Proteins
4-hydroxyphenylpyruvate dioxygenase
4-hydroxyphenylpyruvate dioxygenase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:121839527-121863596
Strand Reverse strand
Band q24.31
Transcripts
ENST00000289004 ENSP00000289004
ENST00000543163 ENSP00000441677
ENST00000543869
ENST00000542159
ENST00000535114
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003868 4-hydroxyphenylpyruvate dioxygenase activity
GO:0016701 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen
GO:0046872 metal ion binding
Biological Process
GO:0006559 L-phenylalanine catabolic process
GO:0006572 tyrosine catabolic process
GO:0009072 aromatic amino acid family metabolic process
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Phenylalanine and tyrosine catabolism pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
KEGG
Phenylalanine metabolism pathway
Ubiquinone and other terpenoid-quinone biosynthesis pathway
Tyrosine metabolism pathway
INOH
Tyrosine metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.2899
RefSeq NM_001171993 NM_002150
HUGO
OMIM
CCDS CCDS53839 CCDS9224
HPRD 02041
IMGT
EMBL
GenPept
RNA Seq Atlas