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Aliases for HPD Gene

Aliases for HPD Gene

  • 4-Hydroxyphenylpyruvate Dioxygenase 2 3
  • 4-Hydroxyphenylpyruvic Acid Oxidase 3 4
  • Glyoxalase Domain Containing 3 2 3
  • EC 4 63
  • HPPDASE 3 4
  • 4HPPD 3 4
  • PPD 3 4
  • 4-HPPD 3
  • GLOD3 3

External Ids for HPD Gene

Previous HGNC Symbols for HPD Gene

  • PPD

Previous GeneCards Identifiers for HPD Gene

  • GC12M121132
  • GC12P121808
  • GC12M122046
  • GC12M120675
  • GC12M120740
  • GC12M122277
  • GC12M119289

Summaries for HPD Gene

Entrez Gene Summary for HPD Gene

  • 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]

GeneCards Summary for HPD Gene

HPD (4-Hydroxyphenylpyruvate Dioxygenase) is a Protein Coding gene. Diseases associated with HPD include tyrosinemia, type iii and hawkinsinuria. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include 4-hydroxyphenylpyruvate dioxygenase activity. An important paralog of this gene is HPDL.

UniProtKB/Swiss-Prot for HPD Gene

  • Key enzyme in the degradation of tyrosine

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPD Gene

Genomics for HPD Gene

Regulatory Elements for HPD Gene

Genomic Location for HPD Gene

121,839,527 bp from pter
121,888,611 bp from pter
49,085 bases
Minus strand

Genomic View for HPD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HPD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HPD Gene

Proteins for HPD Gene

  • Protein details for HPD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    4-hydroxyphenylpyruvate dioxygenase
    Protein Accession:
    Secondary Accessions:
    • A8K461
    • B3KQ63
    • Q13234

    Protein attributes for HPD Gene

    393 amino acids
    Molecular mass:
    44934 Da
    Name=Fe cation; Xref=ChEBI:CHEBI:24875; Note=Binds 1 Fe cation per subunit.;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for HPD Gene

    Alternative splice isoforms for HPD Gene


neXtProt entry for HPD Gene

Proteomics data for HPD Gene at MOPED

Post-translational modifications for HPD Gene

  • Ubiquitination at Lys297
  • Modification sites at PhosphoSitePlus

Other Protein References for HPD Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for HPD Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the 4HPPD family.
  • Belongs to the 4HPPD family.
genes like me logo Genes that share domains with HPD: view

No data available for Gene Families for HPD Gene

Function for HPD Gene

Molecular function for HPD Gene

GENATLAS Biochemistry:
4-hydroxyphenylpyruvate dioxygenase,predominantly expressed in liver,catalyzing the second step of tyrosine catabolism
UniProtKB/Swiss-Prot CatalyticActivity:
4-hydroxyphenylpyruvate + O(2) = homogentisate + CO(2)
UniProtKB/Swiss-Prot Function:
Key enzyme in the degradation of tyrosine

Enzyme Numbers (IUBMB) for HPD Gene

Gene Ontology (GO) - Molecular Function for HPD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003868 4-hydroxyphenylpyruvate dioxygenase activity ISS --
GO:0016701 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with HPD: view
genes like me logo Genes that share phenotypes with HPD: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HPD

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HPD Gene

Localization for HPD Gene

Subcellular locations from

Jensen Localization Image for HPD Gene COMPARTMENTS Subcellular localization image for HPD gene
Compartment Confidence
cytosol 4
mitochondrion 2
nucleus 2
golgi apparatus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HPD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane --
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane --
GO:0005794 Golgi apparatus --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HPD: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HPD Gene

Pathways for HPD Gene

genes like me logo Genes that share pathways with HPD: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P32754-HPPD_HUMAN

  • Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 3/6

Gene Ontology (GO) - Biological Process for HPD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006559 L-phenylalanine catabolic process TAS --
GO:0006572 tyrosine catabolic process ISS --
GO:0009072 aromatic amino acid family metabolic process --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with HPD: view

Drugs for HPD Gene

(2) Drugbank Compounds for HPD Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • 2-(alpha,alpha,alpha-Trifluoro-2-nitro-P-tuluoyl)-1,3-cyclohexanedione
104206-65-7 115355 Target inhibitor approved, investigational
5287556 Target experimental

(8) HMDB Compounds for HPD Gene

Compound Synonyms Cas Number PubMed IDs
4-Hydroxyphenylpyruvic acid
  • (p-hydroxyphenyl)-Pyruvate
Carbon dioxide
  • Carbon oxide
  • Armco iron
Homogentisic acid
  • (2,5-dihydroxyphenyl)-Acetate

(13) Novoseek inferred chemical compound relationships for HPD Gene

Compound -log(P) Hits PubMed IDs
4-hydroxyphenylpyruvate 98.6 67
2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione 95.6 7
ntbc 90.2 9
homogentisate 86.8 4
succinylacetone 86.6 1
genes like me logo Genes that share compounds with HPD: view

Transcripts for HPD Gene

Unigene Clusters for HPD Gene

4-hydroxyphenylpyruvate dioxygenase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HPD

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HPD Gene

No ASD Table

Relevant External Links for HPD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HPD Gene

mRNA expression in normal human tissues for HPD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HPD Gene

This gene is overexpressed in Liver (41.5) and Kidney - Cortex (8.1).

Protein differential expression in normal tissues for HPD Gene

This gene is overexpressed in Liver, secretome (56.8) and Liver (6.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HPD Gene

SOURCE GeneReport for Unigene cluster for HPD Gene Hs.2899

genes like me logo Genes that share expressions with HPD: view

Expression partners for HPD Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for HPD Gene

Orthologs for HPD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HPD Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia HPD 35
  • 90.67 (n)
  • 92.62 (a)
HPD 36
  • 92 (a)
(Canis familiaris)
Mammalia HPD 35
  • 90.25 (n)
  • 92.11 (a)
HPD 36
  • 92 (a)
(Mus musculus)
Mammalia Hpd 35
  • 86.09 (n)
  • 89.82 (a)
Hpd 16
Hpd 36
  • 90 (a)
(Pan troglodytes)
Mammalia HPD 35
  • 99.49 (n)
  • 99.75 (a)
HPD 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Hpd 35
  • 86.34 (n)
  • 89.82 (a)
(Monodelphis domestica)
Mammalia HPD 36
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia HPD 36
  • 72 (a)
(Gallus gallus)
Aves HPD 35
  • 75.77 (n)
  • 77.58 (a)
HPD 36
  • 76 (a)
(Anolis carolinensis)
Reptilia HPD 36
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hpd 35
  • 68.56 (n)
  • 76.03 (a)
Str.8493 35
African clawed frog
(Xenopus laevis)
Amphibia MGC68535 35
(Danio rerio)
Actinopterygii hpdb 35
  • 68.97 (n)
  • 72.05 (a)
zgc56326 35
hpdb 36
  • 70 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8483 35
fruit fly
(Drosophila melanogaster)
Insecta CG11796 37
  • 63 (a)
CG11796 35
  • 65.09 (n)
  • 62.63 (a)
CG11796 36
  • 62 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004802 35
  • 63.52 (n)
  • 66.14 (a)
(Caenorhabditis elegans)
Secernentea C31H2.4 37
  • 41 (a)
T21C12.2 37
  • 61 (a)
hpd-1 35
  • 59.3 (n)
  • 62.11 (a)
hpd-1 36
  • 60 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PDS1 35
  • 48.82 (n)
  • 39.66 (a)
(Oryza sativa)
Liliopsida Os02g0168100 35
  • 57.12 (n)
  • 49.48 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10805 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01830 35
  • 60.85 (n)
  • 56.95 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
CSA.7220 36
  • 61 (a)
Species with no ortholog for HPD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HPD Gene

Gene Tree for HPD (if available)
Gene Tree for HPD (if available)

Paralogs for HPD Gene

Paralogs for HPD Gene

genes like me logo Genes that share paralogs with HPD: view

Variants for HPD Gene

Sequence variations from dbSNP and Humsavar for HPD Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs895959 -- 121,882,446(-) CCTTT(A/G)TTTTA intron-variant
rs1042843 -- 121,839,641(-) TCCCC(A/T)TGGGT utr-variant-3-prime
rs1042844 -- 121,839,640(-) CCCCT(A/T)GGGTC utr-variant-3-prime
rs1126925 -- 121,839,607(-) CCCAA(C/G)GCTCC utr-variant-3-prime
rs1154510 Pathogenic, - 121,857,429(-) AGGCC(A/G)CGTCA utr-variant-5-prime, missense, reference

Structural Variations from Database of Genomic Variants (DGV) for HPD Gene

Variant ID Type Subtype PubMed ID
nsv899567 CNV Gain 21882294
nsv911 CNV Loss 18451855
nsv899568 CNV Gain 21882294
nsv912 CNV Insertion 18451855
esv2433173 CNV Deletion 19546169
dgv322e199 CNV Deletion 23128226
esv2164211 CNV Deletion 18987734
esv2746496 CNV Deletion 23290073
esv1346224 CNV Deletion 17803354

Relevant External Links for HPD Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPD Gene

Disorders for HPD Gene

(2) OMIM Diseases for HPD Gene (609695)


  • Tyrosinemia 3 (TYRSN3) [MIM:276710]: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation. {ECO:0000269 PubMed:10942115, ECO:0000269 PubMed:11073718}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hawkinsinuria (HAWK) [MIM:140350]: 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. {ECO:0000269 PubMed:11073718}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for HPD Gene

(5) Novoseek inferred disease relationships for HPD Gene

Disease -log(P) Hits PubMed IDs
tyrosinemias 90.5 14
tyrosinemia type i 89.9 3
mental retardation 40.4 1
metabolic disorder 29.1 1
tumors 0 7

Genatlas disease for HPD Gene

tyrosinemia,type III

Relevant External Links for HPD

Genetic Association Database (GAD)
genes like me logo Genes that share disorders with HPD: view

Publications for HPD Gene

  1. Regional assignment of the human 4-hydroxyphenylpyruvate dioxygenase gene (HPD) to 12q24-->qter by fluorescence in situ hybridization. (PMID: 8521727) Stenman G. … Lindstedt S. (Cytogenet. Cell Genet. 1995) 3 4 23
  2. Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD). (PMID: 9325050) Ruetschi U. … Lindstedt S. (Genomics 1997) 3 4 23
  3. Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. (PMID: 11073718) Tomoeda K. … Endo F. (Mol. Genet. Metab. 2000) 3 4 23
  4. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. (PMID: 10942115) Rueetschi U. … Holme E. (Hum. Genet. 2000) 3 4 23
  5. Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD). (PMID: 7851880) Awata H. … Matsuda I. (Genomics 1994) 3 4 23

Products for HPD Gene

Sources for HPD Gene

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