Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HPD Gene

Aliases for HPD Gene

  • 4-Hydroxyphenylpyruvate Dioxygenase 2 3 5
  • 4-Hydroxyphenylpyruvic Acid Oxidase 3 4
  • Glyoxalase Domain Containing 3 2 3
  • EC 1.13.11.27 4 61
  • 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 Tyrosine metabolism and Viral mRNA Translation. GO annotations related to this gene include oxidoreductase activity, acting on single donors with incorporation of molecular oxygen and 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 CIViC summary , 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

Enhancers for HPD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G121858 1.5 Ensembl ENCODE dbSUPER 32.4 +29.0 28997 2.4 PKNOX1 FOXA2 ATF1 ARID4B DMAP1 ZNF48 YY1 FOS SP5 KAT8 HPD LINC01089 SETD1B ENSG00000256950 PSMD9 C12orf43 WDR66 TMEM120B LOC105370035 ENSG00000278084
GH12G121783 1.9 FANTOM5 ENCODE dbSUPER 15.6 +92.6 92619 24.5 CREB3L1 MLX AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 PSMD9 ENSG00000272849 ZCCHC8 KNTC1 SETD1B LINC01089 HPD ENSG00000256950 ANAPC5 BCL7A
GH12G121861 1 Ensembl ENCODE 23.1 +26.9 26917 1.0 ZNF384 ZNF644 ZNF766 GATA3 POLR2A GATA2 NR2F6 ZNF639 ZNF362 NR2F1 HPD LINC01089 SETD1B PSMD9 ENSG00000256950 LOC105370035 ENSG00000278084
GH12G121871 1.3 FANTOM5 Ensembl ENCODE 17.4 +15.7 15707 2.7 KLF1 NFIB TAL1 SIN3A ZNF664 TCF12 GATA2 POLR2A NCOR1 FOS HPD WDR66 PSMD9 ENSG00000278084 LOC105370035
GH12G122061 1.7 Ensembl ENCODE dbSUPER 10.7 -174.9 -174856 4.6 CREB3L1 AGO1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 ZCCHC8 PSMD9 KNTC1 SETD1B ANAPC5 LOC100506691 ENSG00000255856 BCL7A HPD ENSG00000256950
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HPD on UCSC Golden Path with GeneCards custom track

Promoters for HPD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000058512 -289 1801 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 TBX21

Genomic Location for HPD Gene

Chromosome:
12
Start:
121,839,527 bp from pter
End:
121,888,611 bp from pter
Size:
49,085 bases
Orientation:
Minus strand

Genomic View for HPD Gene

Genes around HPD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HPD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P32754-HPPD_HUMAN
    Recommended name:
    4-hydroxyphenylpyruvate dioxygenase
    Protein Accession:
    P32754
    Secondary Accessions:
    • A8K461
    • B3KQ63
    • Q13234

    Protein attributes for HPD Gene

    Size:
    393 amino acids
    Molecular mass:
    44934 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for HPD Gene

    Alternative splice isoforms for HPD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HPD Gene

Selected DME Specific Peptides for HPD Gene

P32754:
  • GLETGSR
  • FHRFWSVDD
  • TYGDTTHT
  • VGNAKQAA
  • DHIVGNQPD
  • GKKKSQI
  • HGDGVKD
  • KMPINEPA
  • GFGAGNF
  • VTFWVGNA
  • AYRGLETG
  • GAGVQHIAL
  • LLQIFTKP

Post-translational modifications for HPD Gene

  • Ubiquitination at isoforms=2297
  • Modification sites at PhosphoSitePlus

Other Protein References for HPD Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for HPD Gene

Graphical View of Domain Structure for InterPro Entry

P32754

UniProtKB/Swiss-Prot:

HPPD_HUMAN :
  • Belongs to the 4HPPD family.
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,EXP --
GO:0016491 oxidoreductase activity IEA --
GO:0016701 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen IEA --
GO:0046872 metal ion binding IEA --
GO:0051213 dioxygenase activity IEA --
genes like me logo Genes that share ontologies with HPD: view
genes like me logo Genes that share phenotypes with HPD: view

Human Phenotype Ontology for HPD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HPD gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 4
endoplasmic reticulum 3
golgi apparatus 3
mitochondrion 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HPD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IBA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IBA --
GO:0005794 Golgi apparatus IEA --
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 & Interactions for HPD Gene

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

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 TAS,ISS --
GO:0009072 aromatic amino acid family metabolic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with HPD: view

No data available for SIGNOR curated interactions for HPD Gene

Drugs & Compounds for HPD Gene

(7) Drugs for HPD Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nitisinone Approved, Investigational Pharma inhibitor, Target 15
Oxygen Approved, Vet_approved Pharma 0
Carbon dioxide Approved, Vet_approved Pharma 0
(1-Tert-Butyl-5-Hydroxy-1h-Pyrazol-4-Yl)-(6-Methanesulfonyl-4'-Methoxy-2-Methyl-Biphenyl-3-Yl)-Methanone Experimental Pharma Target 0

(14) Additional Compounds for HPD Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Hydroxyphenylpyruvic acid
  • (p-hydroxyphenyl)-Pyruvate
  • (p-hydroxyphenyl)-Pyruvic acid
  • (p-Hydroxyphenyl)pyruvate
  • (p-Hydroxyphenyl)pyruvic acid
  • 3-(4-Hydroxyphenyl)-2-oxo-propanoate
156-39-8
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Homogentisic acid
  • (2,5-dihydroxyphenyl)-Acetate
  • (2,5-dihydroxyphenyl)-Acetic acid
  • 2,5-Dihydroxy-a-toluate
  • 2,5-Dihydroxy-a-toluic acid
  • 2,5-Dihydroxy-alpha-toluate
451-13-8
Ortho-Hydroxyphenylacetic acid
  • (2-Hydroxyphenyl)acetate
  • (2-Hydroxyphenyl)acetic acid
  • (O-hydroxyphenyl)-Acetate
  • (O-hydroxyphenyl)-Acetic acid
  • (O-Hydroxyphenyl)acetate
614-75-5
Phenylpyruvic acid
  • 2-Hydroxy-3-phenyl-2-propenoic acid, 9CI
  • 2-Oxo-3-phenylpropanoate
  • 2-Oxo-3-phenylpropanoic acid
  • 2-Oxo-3-phenylpropanoic acid (Mixture oxo and keto)
  • 3-Phenyl-2-oxopropanoate
156-06-9
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:

Inhibitory RNA Products

Clone Products

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
HPD
ECgene alternative splicing isoforms for
HPD

Expression for HPD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x41.5) and Kidney - Cortex (x8.1).

Protein differential expression in normal tissues from HIPED for HPD Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HPD Gene



Protein tissue co-expression partners for HPD Gene

NURSA nuclear receptor signaling pathways regulating expression of HPD Gene:

HPD

SOURCE GeneReport for Unigene cluster for HPD Gene:

Hs.2899

Evidence on tissue expression from TISSUES for HPD Gene

  • Liver(4.8)
  • Kidney(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HPD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
Abdomen:
  • liver
Limb:
  • ankle
  • digit
  • foot
  • hand
  • knee
  • lower limb
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with HPD: view

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
chimpanzee
(Pan troglodytes)
Mammalia HPD 34 35
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia HPD 34 35
  • 90.67 (n)
dog
(Canis familiaris)
Mammalia HPD 34 35
  • 90.25 (n)
rat
(Rattus norvegicus)
Mammalia Hpd 34
  • 86.34 (n)
mouse
(Mus musculus)
Mammalia Hpd 34 16 35
  • 86.09 (n)
oppossum
(Monodelphis domestica)
Mammalia HPD 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HPD 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves HPD 34 35
  • 75.77 (n)
lizard
(Anolis carolinensis)
Reptilia HPD 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hpd 34
  • 68.56 (n)
Str.8493 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68535 34
zebrafish
(Danio rerio)
Actinopterygii hpdb 34 35
  • 68.97 (n)
zgc56326 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8483 34
fruit fly
(Drosophila melanogaster)
Insecta CG11796 36 34 35
  • 65.09 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004802 34
  • 63.52 (n)
worm
(Caenorhabditis elegans)
Secernentea T21C12.2 36
  • 61 (a)
hpd-1 35 34
  • 59.3 (n)
OneToOne
C31H2.4 36
  • 41 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PDS1 34
  • 48.82 (n)
rice
(Oryza sativa)
Liliopsida Os02g0168100 34
  • 57.12 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7220 35
  • 61 (a)
OneToMany
-- 35
  • 60 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU01830 34
  • 60.85 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10805 34
Species where no ortholog for HPD was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for HPD (if available)
TreeFam:
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
rs28934278 Tyrosinemia 3 (TYRSN3) [MIM:276710]
VAR_015447 Tyrosinemia 3 (TYRSN3) [MIM:276710]
VAR_015448 Tyrosinemia 3 (TYRSN3) [MIM:276710]
rs1154510 Pathogenic 121,857,429(-) AGGCC(A/G)CGTCA intron-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs137852865 Pathogenic 121,849,726(-) TGGAT(A/G)TGAGG reference, missense

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

Variant ID Type Subtype PubMed ID
dgv322e199 CNV deletion 23128226
dgv883n106 CNV deletion 24896259
esv1346224 CNV deletion 17803354
esv2164211 CNV deletion 18987734
esv2433173 CNV deletion 19546169
esv2746496 CNV deletion 23290073
esv3549898 CNV deletion 23714750
esv3549901 CNV deletion 23714750
esv3630960 CNV loss 21293372
esv3892268 CNV loss 25118596
nsv1070135 CNV deletion 25765185
nsv1127299 CNV deletion 24896259
nsv1145887 CNV deletion 26484159
nsv1160065 CNV deletion 26073780
nsv472039 CNV novel sequence insertion 20440878
nsv911 CNV deletion 18451855
nsv912 CNV insertion 18451855
nsv957277 CNV deletion 24416366

Variation tolerance for HPD Gene

Residual Variation Intolerance Score: 50.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.39; 63.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HPD Gene

Human Gene Mutation Database (HGMD)
HPD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HPD

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

Disorders for HPD Gene

MalaCards: The human disease database

(15) MalaCards diseases for HPD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tyrosinemia, type iii
  • tyrosinemia type iii
hawkinsinuria
  • 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
tyrosinemia
  • hereditary tyrosinemia
glottis squamous cell carcinoma
  • epidermoid carcinoma of the glottis
lower urinary tract calculus
  • calculus of lower urinary tract
- elite association - COSMIC cancer census association via MalaCards
Search HPD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HPPD_HUMAN
  • 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.
  • 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.

Genatlas disease for HPD Gene

tyrosinemia,type III

Relevant External Links for HPD

Genetic Association Database (GAD)
HPD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HPD
genes like me logo Genes that share disorders with HPD: view

Publications for HPD Gene

  1. 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 22 64
  2. 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 22 64
  3. Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD). (PMID: 9325050) Ruetschi U. … Lindstedt S. (Genomics 1997) 3 4 22 64
  4. 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 22 64
  5. Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD). (PMID: 7851880) Awata H. … Matsuda I. (Genomics 1994) 3 4 22 64

Products for HPD Gene

Sources for HPD Gene

Content
Loading form....