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

HPD Gene

protein-coding   GIFtS: 64
GCID: GC12M122277

4-hydroxyphenylpyruvate dioxygenase


(Previous symbol: PPD)
 Explore 13 diseases affiliated with
HPD via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HPD    

Aliases
for HPD gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
4-Hydroxyphenylpyruvate Dioxygenase1 2     4-Hydroxyphenylpyruvic Acid Oxidase2 3
4HPPD1 2 3     EC 1.13.11.273 8
PPD1 2 3     HPPDASE2
4-HPPD1 2     Glyoxalase Domain Containing 32
GLOD31 2     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


Summaries
for HPD gene

(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:
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)

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




Genomic Views
for HPD gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  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 plasmid: HPD 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-qter   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q14-qter

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

Proteins
for HPD gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000289004   ENSP00000441677  
    Reactome Protein details: P32754
    Human Recombinant Protein Products: 
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    Uscn Proteins for HPD

    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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    Protein Domains /
    Families
    for HPD gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HPD for domains           About GeneDecksing

    2 InterPro domains/families:
     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 family: IPB004360 Glyoxalase/Bleomycin resistance protein/dioxygenase domain

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


    Function
    for HPD gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate HPD:
    hsa-miR-654-5p hsa-miR-663 hsa-miR-1908 hsa-miR-541 hsa-miR-744
    SwitchGear 3'UTR luciferase reporter plasmid: HPD 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038684-hydroxyphenylpyruvate dioxygenase activity ISS--
    GO:0046872metal ion binding IEA--


    HPD for ontologies           About GeneDecksing


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

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

    HPD for phenotypes           About GeneDecksing


    Pathways & Interactions
    for HPD gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Transcription CREB pathway
    		Transcription CREB pathway1.00
    		Transcription_CREB pathway0.93
    2tyrosine degradation I
    		tyrosine degradation I1.00
    		Phenylalanine and tyrosine catabolism0.56
    3Tyrosine metabolism
    		Tyrosine metabolism1.00
    		Phenylalanine metabolism0.35
    4Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    5Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for HPD
        Transcription CREB pathway


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

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

    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 biological process terms (GO ID links to tree view):    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



    Drugs & Compounds
    for HPD gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for HPD gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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

    miRNA
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    hsa-miR-654-5p hsa-miR-663 hsa-miR-1908 hsa-miR-541 hsa-miR-744
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    Inhib. RNA
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    Additional cDNA 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):

    BI761327 BX327502 BU738209 CB164060 BM675679 BF724696 AK057510 BC024287 
    NM_002150 R91878 CB124804 Z19961 R11482 CB139872 BI762309 BI765517 
    AI589191 BQ224841 BG703051 CB148250 AV718521 CB133288 AV655626 CB146933 

    GeneLoc Exon Structure


    Expression
    for HPD gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAGCCCCGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    HPD expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Primitive gut tube-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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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    Orthologs
    for HPD gene

    (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 eukaryotes.

    Orthologs for HPD gene from 9/28 species (see all 28)    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
    		 --
    		 76(a)
    		 1 ↔ 1
    		 GL343550.1(312158-317978)
    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 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons PDS16
    		 4-hydroxyphenylpyruvate dioxygenase
    		 28(a)
    		 1 → many
    		 1(2011885-2013545)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 glyoxalase family protein, putative, expressed
    		 29(a)
    		 1 → many
    		 2(3677193-3679952)


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

    Paralogs
    for HPD gene

    (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



    Genomic Variants
    for HPD gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/994 NCBI SNPs in HPD are shown (see all 994)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1378528681,2
    		C,pathogenic122277904(-) CAGATC/GTTCAC 4 I M mis11Minor allele frequency- G:0.00EU 1323
    rs1378528671,2
    		Cpathogenic122285117(-) AGGTAC/GCTGAA 4 Y * stg11Minor allele frequency- G:0.00NA 4552
    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--------
    rs748942461,2
    		C,F,--122277194(+) TCATCG/CCTTGC 2 -- ds50011Minor allele frequency- C:0.07EA 120
    rs1856425501,2
    		--122277343(+) CTCCTC/TGGTCC 2 -- ds50010--------
    rs1453640581,2
    		--122277456(+) TAATCC/GGGAGG 2 -- ut310--------
    rs10428441,2
    		H--122277546(-) CCCCTT/AGGGTC 2 -- ut31 ese31Minor allele frequency- A:0.00NS 118

    HapMap Linkage Disequilibrium report for HPD (122277433 - 122326517 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for HPD
         2 CNVs: 76169 101629
         2 Indels: 24880 44978
    Human Gene Mutation Database (HGMD): HPD

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HPD
    DNA2.0 Custom Variant and Variant Library Synthesis for HPD

    Disorders / Diseases
    for HPD gene

    (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.)
    About This Section
    HPD for disorders           About GeneDecksing

    OMIM gene information: 609695   
    OMIM disorders: 276710  140350  
    UniProtKB/Swiss-Prot: HPPD_HUMAN, P32754
  • Defects in HPD are the cause of tyrosinemia type 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
  • Defects in HPD are a cause of hawkinsinuria (HAWK) [MIM:140350]. HAWK is 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

    13 diseases for HPD:    About MalaCards
    tyrosinemia    hawkinsinuria    tyrosinemia type iii    tyrosinemia type i
    ochronosis    metabolic disorders    acanthoma    peripheral neuropathy
    phenylketonuria    neuropathy    gastric cancer    carcinoma
    hepatitis

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

    5 Novoseek 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


    Export disorders for HPD gene to outside databases

    Publications
    for HPD gene

    (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 68):
    (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)

    External Searches for HPD gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing HPD gene

    (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

    Other Databases showing HPD gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HPD gene

    (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

    Intellectual Property
    for HPD gene

    (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



    Products
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    About This Section

     
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