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HPD Gene

protein-coding   GIFtS: 66
GCID: GC12M122277

4-Hydroxyphenylpyruvate Dioxygenase


(Previous symbol: PPD)
  See HPD-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
4-Hydroxyphenylpyruvate Dioxygenase1 2     EC 1.13.11.273 8
PPD1 2 3     4-HPPD2
Glyoxalase Domain Containing 31 2     GLOD32
4-Hydroxyphenylpyruvic Acid Oxidase2 3     HPPDASE2
4HPPD2 3     HPPDase3

External Ids:    HGNC: 51471   Entrez Gene: 32422   Ensembl: ENSG000001581047   OMIM: 6096955   UniProtKB: P327543   

Export aliases for HPD gene to outside databases

Previous GC identifers: GC12M121132 GC12P121808 GC12M122046 GC12M120675 GC12M120740 GC12M119289


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hawkinsinuria, and external ear carcinoma. GO annotations related to this gene include 4-hydroxyphenylpyruvate dioxygenase activity. An important paralog of this gene is HPDL.

UniProtKB/Swiss-Prot: HPPD_HUMAN, P32754
Function: Key enzyme in the degradation of tyrosine




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the HPD gene promoter:
         Pbx1a   GCNF   Brachyury   CUTL1   Gfi-1   CBF-A   GCNF-1   NF-Y   GCNF-2   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHPD promoter sequence
   Search Chromatin IP Primers for HPD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HPD


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.31   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.31

HPD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HPD gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M122277:  view genomic region     (about GC identifiers)

Start:
122,277,433 bp from pter      End:
122,326,517 bp from pter
Size:
49,085 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HPPD_HUMAN, P32754 (See protein sequence)
Recommended Name: 4-hydroxyphenylpyruvate dioxygenase  
Size: 393 amino acids; 44934 Da
Cofactor: Binds 1 iron ion per subunit (By similarity)
Subunit: Homodimer
1 PDB 3D structure from and Proteopedia for HPD:
3ISQ (3D)    
Secondary accessions: A8K461 B3KQ63 Q13234
Alternative splicing: 2 isoforms:  P32754-1   P32754-2   

Explore the universe of human proteins at neXtProt for HPD: NX_P32754

Explore proteomics data for HPD at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys297
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HPD (P32754) (see all 13)
     GKKKSQI  GLETGSR  HGDGVKD  GFGAGNF 


    See HPD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001165464.1  NP_002141.1  

    ENSEMBL proteins: 
     ENSP00000289004   ENSP00000441677  
    Reactome Protein details: P32754

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR005956 4OHPhenylPyrv_dOase
     IPR004360 Glyas_Fos-R_dOase_dom

    Graphical View of Domain Structure for InterPro Entry P32754

    ProtoNet protein and cluster: P32754

    1 Blocks protein domain: IPB004360 Glyoxalase/Bleomycin resistance protein/dioxygenase domain

    UniProtKB/Swiss-Prot: HPPD_HUMAN, P32754
    Similarity: Belongs to the 4HPPD family


    Find genes that share domains with HPD           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HPPD_HUMAN, P32754
    Function: Key enzyme in the degradation of tyrosine
    Catalytic activity: 4-hydroxyphenylpyruvate + O(2) = homogentisate + CO(2)

         Genatlas biochemistry entry for HPD:
    4-hydroxyphenylpyruvate dioxygenase,predominantly expressed in liver,catalyzing the second step of tyrosine
    catabolism

         Enzyme Number (IUBMB): EC 1.13.11.271 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038684-hydroxyphenylpyruvate dioxygenase activity ISS--
    GO:0016701oxidoreductase activity, acting on single donors with incorporation of molecular oxygen ----
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with HPD           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for HPD:
     Decreased melanin production  Upregulation of Wnt/beta-caten 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hpd):
     homeostasis/metabolism  renal/urinary system 

    Find genes that share phenotypes with HPD           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HPD
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    hsa-miR-654-5p hsa-miR-663 hsa-miR-1908 hsa-miR-541 hsa-miR-744
    SwitchGear 3'UTR luciferase reporter plasmidHPD 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HPD

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    nucleus2
    golgi apparatus1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane ----
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane ----
    GO:0005794Golgi apparatus ----
    GO:0005829cytosol TAS--

    Find genes that share ontologies with HPD           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HPD About    
    See pathways by source

    SuperPathContained pathways About
    1Phenylalanine metabolism
    Phenylalanine metabolism0.36
    phenylalanine utilization0.33
    Tyrosine metabolism0.36
    phenylalanine degradation IV0.00
    2Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    tyrosine degradation I0.00
    Phenylalanine and tyrosine catabolism0.00
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4Ubiquinol biosynthesis
    Ubiquinone and other terpenoid-quinone biosynthesis0.42
    5Transcription CREB pathway
    Transcription CREB pathway0.34


    Find genes that share SuperPaths with HPD           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for HPD
        Transcription CREB pathway

    3 BioSystems Pathways for HPD
        phenylalanine degradation IV
    tyrosine degradation I
    phenylalanine utilization


    1 Reactome Pathway for HPD
        Phenylalanine and tyrosine catabolism


    4 Kegg Pathways  (Kegg details for HPD):
        Ubiquinone and other terpenoid-quinone biosynthesis
    Tyrosine metabolism
    Phenylalanine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: HPPD_HUMAN, P32754
    Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step
    3/6

        Pathway & Disease-focused RT2 Profiler PCR Array including HPD: 

              Amino Acid Metabolism II in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for HPD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for HPD (P327543 ENSP000002890044) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TTC36A6NLP53, ENSP000003076404STRING: ENSP00000307640 I2D: score=4 
    CYP3A4P086843I2D: score=4 
    SOS1Q078893I2D: score=1 
    GOT1ENSP000003595394STRING: ENSP00000359539
    GOT2ENSP000002452064STRING: ENSP00000245206
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006559L-phenylalanine catabolic process TAS--
    GO:0006572tyrosine catabolic process ISS--
    GO:0009072aromatic amino acid family metabolic process ----
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with HPD           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HPD (HPPD)

    7 HMDB Compounds for HPD    About this table
    CompoundSynonyms CAS #PubMed Ids
    4-Hydroxyphenylpyruvic acid(p-Hydroxyphenyl)pyruvate (see all 25)156-39-8--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Homogentisic acid(2,5-dihydroxyphenyl)-Acetate (see all 15)451-13-8--
    IronArmco iron (see all 19)7439-89-6--
    Ortho-Hydroxyphenylacetic acid(2-Hydroxyphenyl)acetate (see all 13)614-75-5--
    OxygenOxygen (see all 5)7782-44-7--
    Phenylpyruvic acid2-Oxo-3-phenylpropanoate (see all 16)156-06-9--

    2 DrugBank Compounds for HPD    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Nitisinone-- 104206-65-7targetinhibitor15931360 18422479 14668946 15931605 12142814 11752352
    (1-Tert-Butyl-5-Hydroxy-1h-Pyrazol-4-Yl)-(6-Methanesulfonyl-4'-Methoxy-2-Methyl-Biphenyl-3-Yl)-Methanone-- --target--17139284 17016423 10592235

    Selected Novoseek inferred chemical compound relationships for HPD gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    4-hydroxyphenylpyruvate 98.6 80 8504803 (4), 9325050 (3), 1383656 (3), 8521727 (2) (see all 43)
    2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione 95.6 10 14668946 (1), 1383656 (1), 15931360 (1), 19621095 (1) (see all 7)
    ntbc 90.2 10 12142814 (5), 9728331 (1), 8739974 (1), 11262262 (1) (see all 5)
    homogentisate 86.8 5 9570125 (1), 12014960 (1), 11243724 (1), 15581571 (1)
    succinylacetone 86.6 1 9728331 (1)
    maleylacetoacetate 81 1 1383656 (1)
    hematoporphyrin 80.3 8 7581906 (2), 12024957 (1), 19923072 (1), 2107292 (1)
    fumarylacetoacetate 78.2 4 1383656 (1), 12127941 (1)
    photofrin ii 66.2 3 8546468 (1), 2107292 (1)
    photofrin 65.1 1 11820595 (1)



    Find genes that share compounds with HPD           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HPD gene (2 alternative transcripts): 
    NM_001171993.1  NM_002150.2  

    Unigene Cluster for HPD:

    4-hydroxyphenylpyruvate dioxygenase
    Hs.2899  [show with all ESTs]
    Unigene Representative Sequence: NM_001171993
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000289004(uc001ubj.3) ENST00000543163(uc001ubk.3) ENST00000543869
    ENST00000542159 ENST00000535114
    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate HPD:
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    SwitchGear 3'UTR luciferase reporter plasmidHPD 3' UTR sequence
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    Additional mRNA sequence: 

    AK057510.1 AK290826.1 BC014790.1 BC024287.1 DQ188836.1 X72389.1 

    5 DOTS entries:

    DT.409481  DT.100797267  DT.95374015  DT.97809980  DT.100870942 

    Selected AceView cDNA sequences (see all 118):

    NM_002150 AK057510 BX327502 BM675679 BU738209 BF724696 R91878 BI761327 
    CB164060 BC024287 CB146933 CB138265 BG751067 CB122275 BM696749 CB133288 
    CB124804 AV718521 BQ224841 BF724404 BQ648011 BQ650314 CB133201 BG701507 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HPD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAGCCCCGC
    HPD Expression
    About this image


    HPD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Epithelial Cells
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Eye (Sensory Organs)
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Kidney (Urinary System)
    HPD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HPD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.2899
        Pathway & Disease-focused RT2 Profiler PCR Array including HPD: 
              Amino Acid Metabolism II in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPD

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HPD gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hpd1 , 5 4-hydroxyphenylpyruvic acid dioxygenase1, 5 86.09(n)1
    89.82(a)1
      5 (62.82 cM)5
    154451  NM_008277.21  NP_032303.11 
     1231718075 
    chicken
    (Gallus gallus)
    Aves HPD1 4-hydroxyphenylpyruvate dioxygenase 75.77(n)
    77.58(a)
      416852  NM_001277491.1  NP_001264420.1 
    lizard
    (Anolis carolinensis)
    Reptilia HPD6
    4-hydroxyphenylpyruvate dioxygenase
    68(a)
    1 ↔ 1
    GL343550.1(311971-323170)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC685352 hypothetical protein MGC68535 74.24(n)    BC060451.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc563262 similar to 4-hydroxyphenylpyruvate dioxygenase 75.84(n)   394142  AY398361.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG117961 , 3 4-hydroxyphenylpyruvate dioxygenase3
    CG117961
    63(a)3
    65.09(n)1
    62.63(a)1
      77C33
    402631  NM_168857.31  NP_730536.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T21C12.23
    hpd-11
    4-hydroxyphenylpyruvate dioxygenase3
    hpd-11
    61(a)
    (best of 2)3
    59.3(n)1
    62.11(a)1
      III(10607198-10609153)3
    1764731  NM_066923.61  NP_499324.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PDS11 PDS1 48.82(n)
    39.66(a)
      837168  NM_100536.3  NP_172144.2 
    rice
    (Oryza sativa)
    Liliopsida Os02g01681001 Os02g0168100 57.12(n)
    49.48(a)
      4328425  NM_001052545.1  NP_001046010.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HPD gene
    HPDL2  

    Find genes that share paralogs with HPD           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HPD (see all 1150)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0154474
    Tyrosinemia 3 (TYRO3)4--see VAR_0154472 A V mis40--------
    VAR_0154484
    Tyrosinemia 3 (TYRO3)4--see VAR_0154482 I M mis40--------
    rs289342781,2,4
    Tyrosinemia 3 (TYRO3)4--see VAR_0154452 mis40--------
    rs1378528681,2
    Cpathogenic1122277904(-) CAGATC/GTTCAC 4 I M mis11Minor allele frequency- G:0.00EU 1323
    rs1378528671,2
    Cpathogenic1122285117(-) AGGTAC/GCTGAA 4 Y * stg11Minor allele frequency- G:0.00NA 4552
    rs11545101,2,,4
    C,F,A,Hpathogenic1122295335(-) AGGCCA/GCGTCA 3 T A mis1 ut51 ese338Minor allele frequency- C:0.00MN NS EA NA WA CSA EU 9101
    rs792167951,2
    --122277036(+) CTACGC/TCAGGC 2 -- ds50010--------
    rs1161486851,2
    F--122277116(+) AACTCC/TTGGCC 2 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1810291521,2
    --122277123(+) GGCCTC/TAAGCG 2 -- ds50010--------
    rs1394140481,2
    --122277145(+) TCTGCC/TTCCCA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for HPD (122277433 - 122326517 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for HPD:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2746496CNV Deletion23290073
    dgv322e199CNV Deletion23128226
    esv1346224CNV Deletion17803354
    esv2433173CNV Deletion19546169
    esv2164211CNV Deletion18987734
    nsv912CNV Insertion18451855
    nsv911CNV Loss18451855
    nsv899567CNV Gain21882294
    nsv899568CNV Gain21882294

    Human Gene Mutation Database (HGMD): HPD
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HPD
    DNA2.0 Custom Variant and Variant Library Synthesis for HPD

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609695   
    OMIM disorders: 276710  140350  
    UniProtKB/Swiss-Prot: HPPD_HUMAN, P32754
  • Tyrosinemia 3 (TYRO3) [MIM:276710]: TYRO3 is an inborn error of metabolism characterized by elevations of
    tyrosine in the blood and urine, seizures and mild mental retardation. 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 6 diseases for HPD:    
    About MalaCards
    hawkinsinuria    external ear carcinoma    tyrosinemia type iii    ochronosis
    tyrosinemia    tyrosinemia type i

    3 diseases from the University of Copenhagen DISEASES database for HPD:
    Tyrosinemia     External ear carcinoma     Malignant glioma

    Find genes that share disorders with HPD           About GenesLikeMe

    5 Novoseek inferred disease relationships for HPD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosinemias 90.5 16 11073718 (4), 10942115 (3), 12142814 (2), 8989996 (1) (see all 8)
    tyrosinemia type i 89.9 9 20003495 (1), 14668946 (1), 12127941 (1)
    mental retardation 40.4 1 8989996 (1)
    metabolic disorder 29.1 1 11073718 (1)
    tumors 0 10 1827265 (6), 2107292 (1)

    Genatlas disease: HPD
    tyrosinemia,type III

    Genetic Association Database (GAD): HPD

    Export disorders for HPD gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HPD gene, integrated from 10 sources (see all 74):
    (articles sorted by number of sources associating them with HPD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. (PubMed id 11073718)1, 2, 9 Tomoeda K.... Endo F. (Mol. Genet. Metab. 2000)
    2. Regional assignment of the human 4-hydroxyphenylpyruvate dioxygenase gene (HPD) to 12q24-->qter by fluorescence in situ hybridization. (PubMed id 8521727)1, 2, 9 Stenman G....Lindstedt S. (Cytogenet. Cell Genet. 1995)
    3. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. (PubMed id 10942115)1, 2, 9 Rueetschi U.... Holme E. (Hum. Genet. 2000)
    4. Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD). (PubMed id 9325050)1, 2, 9 Ruetschi U.... Lindstedt S. (Genomics 1997)
    5. Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD). (PubMed id 7851880)1, 2, 9 Awata H.... Matsuda I. (Genomics 1994)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Tyrosinemia I, a model for human diseases mediated by 2-oxoacid-utilizing dioxygenases: hepatotoxin suppression by NTBC does not normalize hepatic collagen metabolism. (PubMed id 12142814)7, 9 Hanauske-Abel H.M....Levy J. (J. Pediatr. Gastroenterol. Nutr. 2002)
    9. 4-Hydroxyphenylpyruvate dioxygenase as a drug discovery target. (PubMed id 14668946)7, 9 Yang D.Y. (amp 2003)
    10. Human 4-hydroxyphenylpyruvate dioxygenase. Primary structure and chromosomal localization of the gene. (PubMed id 8504803)1, 9 RA1etschi U....Lindstedt S. (Eur. J. Biochem. 1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3242 HGNC: 5147 AceView: HPD Ensembl:ENSG00000158104 euGenes: HUgn3242
    ECgene: HPD Kegg: 3242 H-InvDB: HPD

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HPD Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HPD[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HPD gene:
    Search GeneIP for patents involving HPD

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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