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HPDL Gene

protein-coding   GIFtS: 43
GCID: GC01P045792

4-Hydroxyphenylpyruvate Dioxygenase-Like

(Previous name: glyoxalase domain containing 1)
(Previous symbol: GLOXD1)
  See related disease
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 Dioxygenase-Like1 2     4-HPPD-L2
GLOXD11 2 3     4-Hydroxyphenylpyruvate Dioxygenase-Like Protein2
Glyoxalase Domain Containing 11 2     EC 1.13.-.-3
Glyoxalase Domain-Containing Protein 12 3     

External Ids:    HGNC: 282421   Entrez Gene: 848422   Ensembl: ENSG000001866037   UniProtKB: Q96IR73   

Export aliases for HPDL gene to outside databases

Previous GC identifers: GC01P045568 GC01P043905


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HPDL Gene:
HPDL (4-hydroxyphenylpyruvate dioxygenase-like) is a protein-coding gene. Diseases associated with HPDL include atherosclerosis. GO annotations related to this gene include 4-hydroxyphenylpyruvate dioxygenase activity. An important paralog of this gene is HPD.

UniProtKB/Swiss-Prot: HPDL_HUMAN, Q96IR7
Function: May have dioxygenase activity (Potential)




(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:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the HPDL gene promoter:
         USF1   AML1a   USF2   USF-1:USF-2   AP-4   CBF-B   FOXO4   USF-1   CP1A   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHPDL promoter sequence
   Search Chromatin IP Primers for HPDL

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


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

Entrez Gene cytogenetic band: 1p34.1   Ensembl cytogenetic band:  1p34.1   HGNC cytogenetic band: 1p34.1

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P045792:  view genomic region     (about GC identifiers)

Start:
45,792,545 bp from pter      End:
45,794,347 bp from pter
Size:
1,803 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HPDL_HUMAN, Q96IR7 (See protein sequence)
Recommended Name: 4-hydroxyphenylpyruvate dioxygenase-like protein  
Size: 371 amino acids; 39386 Da
Cofactor: Binds 1 iron ion per subunit (By similarity)
Secondary accessions: B2R9B0

Explore the universe of human proteins at neXtProt for HPDL: NX_Q96IR7

Explore proteomics data for HPDL at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HPDL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_116145.1  
    ENSEMBL proteins: 
     ENSP00000335060  

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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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    1 InterPro protein domain:
     IPR005956 4OHPhenylPyrv_dOase

    Graphical View of Domain Structure for InterPro Entry Q96IR7

    ProtoNet protein and cluster: Q96IR7

    UniProtKB/Swiss-Prot: HPDL_HUMAN, Q96IR7
    Similarity: Belongs to the 4HPPD family


    HPDL 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HPDL_HUMAN, Q96IR7
    Function: May have dioxygenase activity (Potential)

         Enzyme Number (IUBMB): EC 1.13.-.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038684-hydroxyphenylpyruvate dioxygenase activity IEA--
    GO:0016701oxidoreductase activity, acting on single donors with incorporation of molecular oxygen ----
    GO:0046872metal ion binding IEA--
         
    HPDL for ontologies           About GeneDecksing


    Animal Models:
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    miRTarBase miRNAs that target HPDL:
    hsa-mir-335-5p (MIRT018814)

    Block miRNA regulation of human, mouse, rat HPDL using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate HPDL:
    hsa-miR-138-2* hsa-miR-1205
    SwitchGear 3'UTR luciferase reporter plasmidHPDL 3' UTR sequence
    Inhib. RNA
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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
    mitochondrion3
    peroxisome2
    cytosol1
    lysosome1

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HPDL
    Interactions:

        Search GeneGlobe Interaction Network for HPDL

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for HPDL (ENSP000003350604) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OXCT1ENSP000001963714STRING: ENSP00000196371
    OXCT2ENSP000003619144STRING: ENSP00000361914
    SEC62ENSP000003376884STRING: ENSP00000337688
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009072aromatic amino acid family metabolic process IEA--
    GO:0055114oxidation-reduction process ----

    HPDL for ontologies           About GeneDecksing



    (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 HPDL



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HPDL gene: 
    NM_032756.2  

    Unigene Cluster for HPDL:

    4-hydroxyphenylpyruvate dioxygenase-like
    Hs.162717  [show with all ESTs]
    Unigene Representative Sequence: NM_032756
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000334815(uc001cne.3)
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate HPDL:
    hsa-miR-138-2* hsa-miR-1205
    SwitchGear 3'UTR luciferase reporter plasmidHPDL 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for HPDL
    Predesigned siRNA for gene silencing in human, mouse, rat HPDL
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    GenScript: all cDNA clones in your preferred vector: HPDL (NM_032756)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HPDL
    Primer
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    OriGene qPCR primer pairs and template standards for HPDL
    OriGene qSTAR qPCR primer pairs in human, mouse for HPDL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HPDL
      QuantiTect SYBR Green Assays in human, mouse, rat HPDL
      QuantiFast Probe-based Assays in human, mouse, rat HPDL

    Additional mRNA sequence: 

    AK313714.1 BC007293.1 

    6 DOTS entries:

    DT.40267573  DT.100744933  DT.121425749  DT.121425866  DT.100689832  DT.91751493 

    Selected AceView cDNA sequences (see all 96):

    NM_032756 CR622386 BQ069171 AI983119 AW590218 BM772992 BG744112 BM759874 
    BP431999 BG683644 CR602636 BM763009 BM848227 CR597681 AW732245 BQ881389 
    BE731444 AI808699 BQ926390 BM850078 BQ279073 BG774083 BM820166 BU538449 

    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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    HPDL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCGCGCCCG
    HPDL Expression
    About this image


    HPDL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Trophoblast (Extraembryonic Tissues)
             Mural Trophectoderm Cells Mural Trophectoderm
    HPDL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HPDL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.162717
        Custom PCR Arrays for HPDL
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPDL

    (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 animals.

    Orthologs for HPDL gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hpdl1 , 5 4-hydroxyphenylpyruvate dioxygenase-like1, 5 78.17(n)1
    78.71(a)1
      4 (53.35 cM)5
    2426421  NM_146256.31  NP_666368.11 
     1168199045 
    chicken
    (Gallus gallus)
    Aves HPDL1 4-hydroxyphenylpyruvate dioxygenase-like 62.36(n)
    52.25(a)
      101748258  XM_004936745.1  XP_004936802.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia hpdl1 4-hydroxyphenylpyruvate dioxygenase-like 49.34(n)
    42.66(a)
      100135713  NM_001123023.1  NP_001116495.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1719781 zgc:171978 54.66(n)
    44.69(a)
      560428  NM_001109708.1  NP_001103178.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C31H2.46
    Protein C31H2.4 (C31H2.4) mRNA, complete cds
    24(a)
    1 ↔ 1
    X(5155093-5159661) WBGene00016294


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HPDL gene
    HPD2  

    HPDL 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), 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 HPDL (see all 109)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1407220251,2
    --45790606(+) CTGCAA/GTGAGC 1 -- us2k10--------
    rs1843702301,2
    --45790658(+) GACCTC/TATCTC 1 -- us2k10--------
    rs343151711,2
    C--45790685(+) TTTTC-/TTTTTT 1 -- us2k12Minor allele frequency- T:0.00NA CSA 4
    rs1890757041,2
    --45790768(+) ACCTCC/TGCCTC 1 -- us2k10--------
    rs1415116901,2
    C--45790987(+) TAAAT-/AAATAT 1 -- us2k10--------
    rs567997581,2
    C--45791021(+) TAATT-/AAAAAA 1 -- us2k11Minor allele frequency- A:0.00NA 2
    rs1158559901,2
    --45791025(+) TAAAAA/GAAAAA 1 -- us2k10--------
    rs1151971841,2
    F--45791106(+) GAAGTA/GGGTAC 1 -- us2k11Minor allele frequency- G:0.04WA 118
    rs770476131,2
    C--45791147(+) TAAGGC/GTCAGA 1 -- us2k10--------
    rs108903241,2
    C,F,A,H--45791154(+) CAGAGA/GCGTTA 1 -- us2k123Minor allele frequency- G:0.43NS EA NA WA CSA 2346

    HapMap Linkage Disequilibrium report for HPDL (45792545 - 45794347 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for HPDL: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HPDL
    DNA2.0 Custom Variant and Variant Library Synthesis for HPDL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease for HPDL:    
    About MalaCards
    atherosclerosis


    HPDL for disorders           About GeneDecksing


    Export disorders for HPDL 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 HPDL gene integrated from 10 sources:
    (articles sorted by number of sources associating them with HPDL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    2. 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)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    6. Glyoxalase I and aldose reductase gene polymorphisms and susceptibility to carotid atherosclerosis in type 2 diabetes. (PubMed id 21294693)1 Wu J.C....Peng Y.D. (Genet Test Mol Biomarkers 2011)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

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

      Query String
    PubMed
    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)
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    Entrez Gene: 84842 HGNC: 28242 AceView: MGC15668 Ensembl:ENSG00000186603 euGenes: HUgn84842
    ECgene: HPDL H-InvDB: HPDL

    (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 HPDL Pharmacogenomics, SNPs, Pathways

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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