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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HPD Gene

protein-coding   GIFtS: 66
GCID: GC12M122277

4-Hydroxyphenylpyruvate Dioxygenase


(Previous symbol: PPD)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Phenylalanine and tyrosine catabolism and Metabolic pathways. GO annotations related to this gene include 4-hydroxyphenylpyruvate dioxygenase activity and metal ion binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_009775.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HPD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P32754

  • 4/13 DME Specific Peptides for HPD (P32754) (see all 13)
     GKKKSQI  GLETGSR  HGDGVKD  GFGAGNF 

    HPD Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

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

    ENSEMBL proteins: 
     ENSP00000289004   ENSP00000441677  
    Reactome Protein details: P32754
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    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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

    HPD for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    HPD for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    HPD for ontologies           About GeneDecksing


    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 

    HPD for phenotypes           About GeneDecksing

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidHPD 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HPD About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1tyrosine degradation I
    tyrosine degradation I0.56
    Phenylalanine and tyrosine catabolism0.56
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3phenylalanine utilization
    phenylalanine degradation IV (mammalian, via side chain)0.70
    phenylalanine utilization0.70
    4Phenylalanine metabolism
    Phenylalanine metabolism0.36
    Tyrosine metabolism0.36
    5Development Ligand-independent activation of ESR1 and ESR2
    Transcription CREB pathway0.93

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for HPD
        Transcription CREB pathway


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

    3 BioSystems Pathways for HPD
        phenylalanine degradation IV (mammalian, via side chain)
    tyrosine degradation I
    phenylalanine utilization

    3        Reactome Pathways for HPD
        Phenylalanine and tyrosine catabolism
    Metabolism
    Metabolism of amino acids and derivatives


    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


    HPD for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HPD

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

    5/17 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): 5/6 biological process terms (GO ID links to tree view) (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--

    HPD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HPD for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/13 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)

    Search CenterWatch for drugs/clinical trials and news about HPD / HPPD

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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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 

    24/118 AceView cDNA sequences (see all 118):

    BX327502 BI761327 NM_002150 CB164060 BF724696 R91878 BU738209 AK057510 
    BM675679 BC024287 BM696749 BQ927091 CB124804 AI589191 R11482 CB139872 
    CB138927 Z19961 BI762309 CB162518 CB115649 BQ651955 X72389 CB117080 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HPD expression in normal human tissues (normalized intensities)      HPD embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Liver (Hepatobiliary System)
             Human Hepatocyte (HH)   
     
     Gut Tube (Gastrointestinal Tract)
             Primitive gut tube-like cells ( A scalable, suspension protocol for derivation of...
     
     Uterus (Reproductive System)
             cervix   
     
     Eye (Sensory Organs)
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Kidney (Urinary System)

    See HPD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HPD

    SOURCE GeneReport for Unigene cluster: Hs.2899
        SABiosciences Expression via Pathway-Focused PCR Array including HPD: 
              Amino Acid Metabolism II in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for HPD gene from 7/19 species (see all 19)    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  XM_415144.3  XP_415144.3 
    lizard
    (Anolis carolinensis)
    Reptilia HPD6
    4-hydroxyphenylpyruvate dioxygenase
    69(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_168857.21  NP_730536.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T21C12.23
    hpd-11
    4-hydroxyphenylpyruvate dioxygenase3
    Protein HPD-11
    61(a)
    (best of 2)3
    59.3(n)1
    62.11(a)1
      III(10607198-10609153)3
    1764731  NM_066923.51  NP_499324.11 


    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)
    About This Section
    Paralogs for HPD gene
    HPDL2  

    HPD for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1150 SNPs in HPD are shown (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--------
    VAR_0154454
    Tyrosinemia 3 (TYRO3)4--see VAR_0154452 Y C 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
    VAR_0154464
    ----see VAR_0154462 I F mis40--------
    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--------

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 16 diseases for HPD:    About MalaCards
    tyrosinemia type iii    hawkinsinuria    external ear carcinoma    tyrosinemia
    tyrosinemia type i    ochronosis    acanthoma    phenylketonuria
    metabolic acidosis    metabolic disorders    peripheral neuropathy    malignant glioma
    neuropathy    mental retardation    gastric cancer    hepatitis

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

    HPD for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for HPD gene, integrated from 9 sources (see all 71):
    (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. (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. (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. (2000)
    4. Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD). (PubMed id 9325050)1, 2, 9 Ruetschi U....Lindstedt S. (1997)
    5. Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD). (PubMed id 7851880)1, 2, 9 Awata H.... Matsuda I. (1994)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (2002)
    9. 4-Hydroxyphenylpyruvate dioxygenase as a drug discovery target. (PubMed id 14668946)7, 9 Yang D.Y. (2003)
    10. Human 4-hydroxyphenylpyruvate dioxygenase. Primary structure and chromosomal localization of the gene. (PubMed id 8504803)1, 9 Rueetschi U....Lindstedt S. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (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)
    About This Section
    Entrez Gene: 3242 HGNC: 5147 AceView: HPD Ensembl:ENSG00000158104 euGenes: HUgn3242
    ECgene: HPD Kegg: 3242 H-InvDB: HPD

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HPD Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HPD

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

     
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