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HPRT1 Gene

protein-coding   GIFtS: 72
GCID: GC0XP133594

Hypoxanthine Phosphoribosyltransferase 1


(Previous symbol: HPRT)
  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)
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Aliases
Hypoxanthine Phosphoribosyltransferase 11 2     EC 2.4.2.83 8
HPRT1 2 3 5     Lesch-Nyhan Syndrome1
HGPRT2 3     Hypoxanthine-Guanine Phosphoribosyltransferase2
HGPRTase2 3     

External Ids:    HGNC: 51571   Entrez Gene: 32512   Ensembl: ENSG000001657047   OMIM: 3080005   UniProtKB: P004923   

Export aliases for HPRT1 gene to outside databases

Previous GC identifers: GC0XP128239 GC0XP130440 GC0XP131539 GC0XP132299 GC0XP133319 GC0XP133421 GC0XP122992


(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 HPRT1 Gene:
The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine
monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from
5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides
through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.(provided by
RefSeq, Jun 2009)

GeneCards Summary for HPRT1 Gene:
HPRT1 (hypoxanthine phosphoribosyltransferase 1) is a protein-coding gene. Diseases associated with HPRT1 include lesch-nyhan syndrome, and atlantoaxial subluxation. GO annotations related to this gene include magnesium ion binding and protein homodimerization activity. An important paralog of this gene is PRTFDC1.

UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492
Function: Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the
5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation
of purine nucleotides through the purine salvage pathway

Gene Wiki entry for HPRT1 (Hypoxanthine-guanine phosphoribosyltransferase) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the HPRT1 gene promoter:
         p53   Nkx2-2   POU6F1 (c2)   AP-2gamma   NF-kappaB   FOXL1   POU2F1   NF-kappaB2   POU2F1a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHPRT1 promoter sequence
   Search Chromatin IP Primers for HPRT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HPRT1


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

Entrez Gene cytogenetic band: Xq26.1   Ensembl cytogenetic band:  Xq26.2   HGNC cytogenetic band: Xq26.2

HPRT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HPRT1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP133594:  view genomic region     (about GC identifiers)

Start:
133,594,175 bp from pter      End:
133,654,543 bp from pter
Size:
60,369 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492 (See protein sequence)
Recommended Name: Hypoxanthine-guanine phosphoribosyltransferase  
Size: 218 amino acids; 24579 Da
Cofactor: Binds 2 magnesium ions per subunit. The magnesium ions are essentially bound to the substrate and have
few direct interactions with the protein
Subunit: Homotetramer
Selected PDB 3D structures from and Proteopedia for HPRT1 (see all 10):
1BZY (3D)        1D6N (3D)        1HMP (3D)        1Z7G (3D)        2VFA (3D)        3GEP (3D)    
Secondary accessions: A6NHF0 B2R8M9

Explore the universe of human proteins at neXtProt for HPRT1: NX_P00492

Explore proteomics data for HPRT1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys103, Lys166, Lys175
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HPRT1 (P00492) (see all 11)
     VLIVEDI  LIVEDIID  CVISETGK  VEDIIDTG 


    See HPRT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000185.1  
    ENSEMBL proteins: 
     ENSP00000298556  
    Reactome Protein details: P00492

    HPRT1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for HPRT1

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    Cloud-Clone Corp. CLIAs for HPRT1


    (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:
     IPR005904 Hxn_phspho_trans
     IPR000836 PRibTrfase_dom

    Graphical View of Domain Structure for InterPro Entry P00492

    ProtoNet protein and cluster: P00492

    1 Blocks protein domain: IPB002375 Purine/pyrimidine phosphoribosyl transferase

    UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492
    Similarity: Belongs to the purine/pyrimidine phosphoribosyltransferase family


    HPRT1 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: HPRT_HUMAN, P00492
    Function: Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the
    5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation
    of purine nucleotides through the purine salvage pathway
    Catalytic activity: IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate
    Catalytic activity: GMP + diphosphate = guanine + 5-phospho-alpha-D-ribose 1-diphosphate
    Biophysicochemical properties: Kinetic parameters: KM=5.4 uM for IMP; KM=0.45 uM for hypoxanthine; KM=25 uM for
    pyrophosphate; KM=31 uM for phosphoribosylpyrophosphate;

         Genatlas biochemistry entry for HPRT1:
    hypoxanthine phosphoribosyltransferase,purine salvage pathway

         Enzyme Number (IUBMB): EC 2.4.2.81 2

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0000287magnesium ion binding IDA10360366
    GO:0004422hypoxanthine phosphoribosyltransferase activity IDA19527031
    GO:0005515protein binding IPI16189514
    GO:0042802identical protein binding ----
         
    HPRT1 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 153 alleles(MGI details for Hprt) (see all 25):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 

    HPRT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hprttm1.1Pobe for HPRT1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HPRT1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HPRT1

    miRNA
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    miRTarBase miRNAs that target HPRT1:
    hsa-mir-34a-5p (MIRT025379), hsa-mir-30c-5p (MIRT048012), hsa-mir-193b-3p (MIRT016412)

    Block miRNA regulation of human, mouse, rat HPRT1 using miScript Target Protectors
    9 qRT-PCR Assays for microRNAs that regulate HPRT1 (see first 8):
    hsa-miR-301b hsa-miR-301a hsa-miR-3666 hsa-miR-19b hsa-miR-4295 hsa-miR-454 hsa-miR-130a hsa-miR-19a
    hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidHPRT1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for HPRT1
    Predesigned siRNA for gene silencing in human, mouse, rat HPRT1

    Gene Editing
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    OriGene ORF clones in mouse, rat for HPRT1
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    GenScript: all cDNA clones in your preferred vector: HPRT1 (NM_000194)
    Sino Biological Human cDNA Clone for HPRT1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HPRT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HPRT1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPRT1


    (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 UniProtKB/Swiss-Prot
    HPRT_HUMAN, P00492: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    mitochondrion3
    nucleus2
    plasma membrane2
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA--

    HPRT1 for ontologies           About GeneDecksing


    (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 HPRT1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Purine metabolism (REACTOME)
    Purine metabolism0.42
    guanine and guanosine salvage0.00
    Metabolism of nucleotides0.42
    Purine salvage0.00
    adenine and adenosine salvage III0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    4purine nucleotide salvage
    purine nucleotide salvage0.78
    5Glucuronidation
    Drug metabolism - other enzymes0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for HPRT1
        ATP/ITP metabolism

    4 BioSystems Pathways for HPRT1
        Nucleotide Metabolism
    adenine and adenosine salvage III
    purine nucleotide salvage
    guanine and guanosine salvage


    1 Reactome Pathway for HPRT1
        Purine salvage

    1 PharmGKB Pathway for HPRT1
        Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    3 Kegg Pathways  (Kegg details for HPRT1):
        Purine metabolism
    Drug metabolism - other enzymes
    Metabolic pathways

    UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492
    Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from hypoxanthine: step 1/1


    HPRT1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HPRT1 (see all 149): 

              Antiviral Response in human mouse rat
              Multiple Sclerosis in human mouse rat
              Wound Healing in human mouse rat
              Prostate Cancer in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for HPRT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HPRT1 (P004921, 2, 3 ENSP000002985564) via UniProtKB, MINT, STRING, and/or I2D (see all 97)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WDYHV1Q96HA81, 2, 3, ENSP000002873874EBI-748210,EBI-741158 MINT-67224 I2D: score=5 STRING: ENSP00000287387
    PRTFDC1Q9NRG12, 3, ENSP000003186024MINT-68331 I2D: score=5 STRING: ENSP00000318602
    HUS1O609213, ENSP000002587744I2D: score=2 STRING: ENSP00000258774
    FANCAO153603, ENSP000003739524I2D: score=1 STRING: ENSP00000373952
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
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    Gene Ontology (GO): Selected biological process terms (see all 29):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001975response to amphetamine IEA--
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006164purine nucleotide biosynthetic process IMP9824441
    GO:0006166purine ribonucleoside salvage IMP9824441
    GO:0006168adenine salvage IBA--

    HPRT1 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 HPRT1 (HPRT)

    Selected HMDB Compounds for HPRT1 (see all 12)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenine1,6-Dihydro-6-iminopurine (see all 19)73-24-5--
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    GuanineGUN (see all 26)73-40-5--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Hypoxanthine1,7-Dihydro-6H-purin-6-one (see all 20)68-94-0--
    Inosinic acid5'-IMP (see all 9)131-99-7--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Phosphoribosyl pyrophosphate5-Phospho-a-D-ribose-1-diphosphate (see all 37)7540-64-9--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    8 DrugBank Compounds for HPRT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Thioguanine2-Amino 6MP (see all 14)154-42-7enzymesubstrate14529546 11545274 15136753 11756148 1383700
    3h-Pyrazolo[4,3-D]Pyrimidin-7-Ol-- --target--17139284 17016423 10592235
    5--Monophosphate-9-Beta-D-Ribofuranosyl Xanthine-- --target--17139284 17016423 10592235
    9-Deazaguanine-- --target--17139284 17016423 10592235
    Alpha-Phosphoribosylpyrophosphoric Acid-- 13270-65-0target--17139284 17016423 10592235
    Pyrophosphate 2--- --target--17139284 17016423 10592235
    AzathioprineAzathioprin (see all 3)446-86-6targetinhibitor18020555 15354273
    Mercaptopurine6 MP (see all 5)50-44-2targetinhibitor15354273

    Selected Novoseek inferred chemical compound relationships for HPRT1 gene (see all 126)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypoxanthine 93.4 273 17129743 (3), 2397107 (2), 8824508 (2), 10657589 (2) (see all 99)
    6 thioguanine 91.5 152 9262380 (5), 7681532 (4), 9855005 (3), 17066413 (3) (see all 84)
    purine 83.3 130 1311306 (3), 12429535 (2), 10850548 (2), 9824441 (2) (see all 88)
    prpp 80.6 48 1311306 (4), 10657589 (3), 18536021 (2), 15819884 (2) (see all 19)
    actb 78.1 24 16777070 (3), 15720708 (3), 18191039 (2), 17257226 (2) (see all 15)
    guanine 74.6 71 1850982 (2), 8589681 (2), 8962428 (2), 10576552 (2) (see all 52)
    1,3-butadiene 74.5 57 11397407 (5), 11397400 (4), 15036120 (4), 18288319 (3) (see all 22)
    1-nitrosopyrene 73 5 9202750 (1), 8033153 (1), 7592980 (1), 8668188 (1)
    butadiene monoxide 72.5 9 8070866 (2), 8149485 (2), 9379915 (1), 9463556 (1) (see all 5)
    bpde 71.8 41 1381465 (4), 2120584 (3), 2122466 (3), 9202750 (2) (see all 16)

    1 PharmGKB related drug/compound annotation for HPRT1 gene    About this table
    Drug/compound PharmGKB Annotation
    mycophenolic acid



    HPRT1 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HPRT1 gene: 
    NM_000194.2  

    Unigene Cluster for HPRT1:

    Hypoxanthine phosphoribosyltransferase 1
    Hs.412707  [show with all ESTs]
    Unigene Representative Sequence: NM_000194
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298556(uc004exl.4) ENST00000462974 ENST00000475720
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate HPRT1 (see all 9):
    hsa-miR-301b hsa-miR-301a hsa-miR-3666 hsa-miR-19b hsa-miR-4295 hsa-miR-454 hsa-miR-130a hsa-miR-19a
    SwitchGear 3'UTR luciferase reporter plasmidHPRT1 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat HPRT1
      QuantiFast Probe-based Assays in human, mouse, rat HPRT1

    Additional mRNA sequence: 

    AK313435.1 BC000578.2 BT019350.1 CR407645.1 L29382.1 L29383.1 M24772.1 M31642.1 
    U31737.1 

    7 DOTS entries:

    DT.315146  DT.101982197  DT.95182310  DT.121305200  DT.92441189  DT.100800735  DT.99955125 

    Selected AceView cDNA sequences (see all 275):

    AI990397 BX281515 AA320916 BF725707 BM968309 N47311 CA419764 BM315030 
    AW949523 CB158613 BE218846 CA418043 BE548220 BQ774854 H06322 AI246714 
    BQ772821 AV713164 AV648680 CR614617 BM665410 BM712509 BI964091 BM904628 

    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)
    About This Section

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    HPRT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATCTTCTAA
    HPRT1 Expression
    About this image


    HPRT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             XY Germ Cells Testis Cord
     
     Kidney (Urinary System)
             Metanephros
     
     Gonad
             XY Germ Cells Testis Cord
    HPRT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HPRT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.412707
        Pathway & Disease-focused RT2 Profiler PCR Arrays including HPRT1 (see all 149): 
              Antiviral Response in human mouse rat
              Multiple Sclerosis in human mouse rat
              Wound Healing in human mouse rat
              Prostate Cancer in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    (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 HPRT1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hprt1 , 5 hypoxanthine guanine phosphoribosyl transferase1, 5 93.43(n)1
    96.79(a)1
      X (29.31 cM)5
    154521  NM_013556.21  NP_038584.21 
     529881375 
    chicken
    (Gallus gallus)
    Aves HPRT11 hypoxanthine phosphoribosyltransferase 1 81.04(n)
    90.83(a)
      395653  NM_204848.1  NP_990179.1 
    lizard
    (Anolis carolinensis)
    Reptilia HPRT16
    hypoxanthine phosphoribosyltransferase 1
    83(a)
    1 ↔ 1
    GL343761.1(177239-198233)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC762232 hypothetical protein MGC76223 79.79(n)    BC064242.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.16682 Danio rerio cDNA clone MGC56221 IMAGE5600947, complete more 78.57(n)    BC046003.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y105E8B.53
    CELE_Y105E8B.51
    CELE_Y105E8B.51 48(a)3
    51.89(n)1
    49.06(a)1
      I(14665437-14669289)3
    1733231  NM_061144.51  NP_493545.11 


    ENSEMBL Gene Tree for HPRT1 (if available)
    TreeFam Gene Tree for HPRT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HPRT1 gene
    PRTFDC12  
    1 SIMAP similar gene for HPRT1 using alignment to 2 protein entries:     HPRT_HUMAN (see all proteins):
    PRTFDC1

    HPRT1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for HPRT1
    PGOHUM00000242429 PGOHUM00000245472 PGOHUM00000235542


    (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 HPRT1 (see all 725)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0067554
    Gout HPRT-related (GOUT-HPRT)4--see VAR_0067552 C W mis40--------
    VAR_0067654
    Lesch-Nyhan syndrome (LNS)4--see VAR_0067652 R P mis40--------
    VAR_0067744
    Lesch-Nyhan syndrome (LNS)4--see VAR_0067742 G R mis40--------
    VAR_0067974
    Gout HPRT-related (GOUT-HPRT)4--see VAR_0067972 D E mis40--------
    VAR_0067794
    Gout HPRT-related (GOUT-HPRT)4--see VAR_0067792 S L mis40--------
    VAR_0067634
    Lesch-Nyhan syndrome (LNS)4--see VAR_0067632 A P mis40--------
    VAR_0067684
    Gout HPRT-related (GOUT-HPRT)4--see VAR_0067682 V M mis40--------
    VAR_0067874
    Gout HPRT-related (GOUT-HPRT)4--see VAR_0067872 A S mis40--------
    VAR_0067904
    Lesch-Nyhan syndrome (LNS)4--see VAR_0067902 P L mis40--------
    VAR_0067784
    Gout HPRT-related (GOUT-HPRT)4--see VAR_0067782 S R mis40--------

    HapMap Linkage Disequilibrium report for HPRT1 (133594175 - 133654543 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for HPRT1: --
    Human Gene Mutation Database (HGMD): HPRT1
    Locus Specific Mutation Databases (LSDB): HPRT1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HPRT1
    DNA2.0 Custom Variant and Variant Library Synthesis for HPRT1

    (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: 308000   
    OMIM disorders: 300322  300323  
    UniProtKB/Swiss-Prot: HPRT_HUMAN, P00492
  • Lesch-Nyhan syndrome (LNS) [MIM:300322]: Characterized by complete lack of enzymatic activity that
    results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Gout HPRT-related (GOUT-HPRT) [MIM:300323]: Characterized by partial enzyme activity and hyperuricemia.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for HPRT1 (see all 99):    
    About MalaCards
    lesch-nyhan syndrome    atlantoaxial subluxation    hprt-related gout    gout, hprt1-related
    gout    hereditary hyperuricemia    adenine phosphoribosyltransferase deficiency    phosphoribosylpyrophosphate synthetase superactivity
    non-hodgkin lymphoma, childhood    hodgkin lymphoma, childhood    acute urate nephropathy    hyperuricemia
    nephrolithiasis    macular holes    purine nucleoside phosphorylase deficiency    tetrahydrobiopterin deficiency
    bloom syndrome    n syndrome    retinal detachment    developmental disabilities

    7 diseases from the University of Copenhagen DISEASES database for HPRT1:
    Lesch-Nyhan syndrome     Hyperuricemia     Gout     N syndrome
    Purine nucleoside phosphorylase deficiency     Intellectual disability     Cancer

    HPRT1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for HPRT1 gene (see all 92)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lesch-nyhan syndrome 97.1 433 11307586 (10), 17309125 (7), 15935074 (6), 9629791 (5) (see all 99)
    hprt deficiency, partial 95.1 75 16649740 (3), 17065067 (3), 8028417 (2), 11773585 (2) (see all 37)
    hyperuricemia 78.4 46 2018042 (2), 16216473 (2), 12508781 (2), 7987318 (1) (see all 29)
    somatic mutations 73.3 47 8824508 (2), 11673087 (2), 9435878 (2), 7521002 (2) (see all 31)
    choreoathetosis 72.6 6 15193365 (1), 11307586 (1), 12927681 (1), 1487231 (1) (see all 6)
    purine metabolism disorder 71.5 4 2018042 (1), 1912725 (1), 17065067 (1)
    gout 68.3 49 8112742 (3), 1306134 (2), 10451080 (2), 15862284 (2) (see all 29)
    arthritis gouty 65.1 8 19565499 (2), 15158715 (1), 15193365 (1), 15862284 (1) (see all 6)
    chromosomal aberrations 63.1 49 1879404 (3), 8143603 (2), 1719390 (2), 7523909 (2) (see all 39)
    xeroderma pigmentosum 60.6 7 9379920 (2), 1992158 (1), 7683756 (1), 1372100 (1) (see all 5)

    Genatlas disease: HPRT1
    Lesch Nyhan syndrome,including severe juvenile gout

    GeneTests: HPRT1
    GeneReviews: HPRT1
    Genetic Association Database (GAD): HPRT1
    Human Genome Epidemiology (HuGE) Navigator: HPRT1 (13 documents)

    Export disorders for HPRT1 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 HPRT1 gene, integrated from 10 sources (see all 1005):
    (articles sorted by number of sources associating them with HPRT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. (PubMed id 1487231)1, 2, 9 Sculley D.G.... Gordon R.B. (Hum. Genet. 1992)
    2. Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. (PubMed id 1301916)1, 2, 9 Sege-Paterson K.... Nyhan W.L. (Hum. Mol. Genet. 1992)
    3. Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification. (PubMed id 1937471)1, 2, 9 Sculley D.G.... Gordon R.B. (Hum. Genet. 1991)
    4. Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. (PubMed id 2018042)1, 2, 9 Davidson B.L.... Palella T.D. (Am. J. Hum. Genet. 1991)
    5. Sequential evaluation of thiopurine methyltransferase, inosine triphosphate pyrophosphatase, and HPRT1 genes polymorphisms to explain thiopurines' toxicity and efficacy. (PubMed id 17697207)1, 4, 9 Palmieri O....Annese V. (amp 2007)
    6. Differential interactions between GSTM1 and NAT2 genotypes on aromatic DNA adduct level and HPRT mutant frequency in lung cancer patients and population controls. (PubMed id 11219770)1, 4, 9 Hou S.M....Lambert B. (amp 2001)
    7. Ternary complex structure of human HGPRTase, PRPP, Mg2+, and the inhibitor HPP reveals the involvement of the flexible loop in substrate binding. (PubMed id 10338013)1, 2, 9 Balendiran G.K.... Craig S.P. III (Protein Sci. 1999)
    8. An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans. (PubMed id 9003484)1, 2, 9 Fujimori S....Kamatani N. (Hum. Genet. 1997)
    9. The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP. (PubMed id 8044844)1, 2, 9 Eads J.C.... Sacchettini J.C. (Cell 1994)
    10. Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals. (PubMed id 20045992)1, 4, 9 Kudo M....Hiratsuka M. (Drug Metab. Pharmacokinet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 3251 HGNC: 5157 AceView: HPRT1 Ensembl:ENSG00000165704 euGenes: HUgn3251
    ECgene: HPRT1 Kegg: 3251 H-InvDB: HPRT1

    (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)
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    NameDescription
    PharmGKB entry for HPRT1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HPRT1[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/hprt1/
    Wikipedia http://en.wikipedia.org/wiki/Hypoxanthine-guanine_phosphoribosyltransferase

    (Patent information from GeneIP,
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    Patent Information for HPRT1 gene:
    Search GeneIP for patents involving HPRT1

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



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