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QPRT Gene

protein-coding   GIFtS: 66
GCID: GC16P029677

Quinolinate Phosphoribosyltransferase

  See QPRT-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
Quinolinate Phosphoribosyltransferase1 2     HEL-S-90n2
Nicotinate-Nucleotide Pyrophosphorylase (Carboxylating)1 2     Epididymis Secretory Sperm Binding Protein Li 90n2
QAPRTase2 3     Nicotinate-Nucleotide Pyrophosphorylase [Carboxylating]2
QPRTase2 3     Quinolinate Phosphoribosyltransferase [Decarboxylating]3
EC 2.4.2.193 8     

External Ids:    HGNC: 97551   Entrez Gene: 234752   Ensembl: ENSG000001034857   OMIM: 6062485   UniProtKB: Q152743   

Export aliases for QPRT gene to outside databases

Previous GC identifers: GC16M028713 GC16P030014 GC16P029688 GC16P029728 GC16P029597 GC16P027351 GC16P029675 GC16P029690


(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 QPRT Gene:
This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide
adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neurons. Elevation of
quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders such as
epilepsy, Alzheimer's disease, and Huntington's disease. (provided by RefSeq, Jul 2008)

GeneCards Summary for QPRT Gene:
QPRT (quinolinate phosphoribosyltransferase) is a protein-coding gene. Diseases associated with QPRT include pellagra, and seizure disorder. GO annotations related to this gene include nicotinate-nucleotide diphosphorylase (carboxylating) activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: NADC_HUMAN, Q15274
Function: Involved in the catabolism of quinolinic acid (QA)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_187260.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the QPRT gene promoter:
         Egr-2   FOXI1   HFH-3   p53   XBP-1   MIF-1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidQPRT promoter sequence
   Search Chromatin IP Primers for QPRT

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


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P029677:  view genomic region     (about GC identifiers)

Start:
29,674,600 bp from pter      End:
29,710,020 bp from pter
Size:
35,421 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NADC_HUMAN, Q15274 (See protein sequence)
Recommended Name: Nicotinate-nucleotide pyrophosphorylase [carboxylating]  
Size: 297 amino acids; 30846 Da
Subunit: Hexamer formed by 3 homodimers
4 PDB 3D structures from and Proteopedia for QPRT:
2JBM (3D)        3LAR (3D)        4KWV (3D)        4KWW (3D)    
Secondary accessions: Q53XW7 Q96G22 Q9BSG6

Explore the universe of human proteins at neXtProt for QPRT: NX_Q15274

Explore proteomics data for QPRT at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys183, Lys288
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for QPRT (Q15274)
     TRKTTPG  LKVEVECSSL  LWAKSPGVLAG 


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

    REFSEQ proteins: NP_055113.2  
    ENSEMBL proteins: 
     ENSP00000404873   ENSP00000378782   ENSP00000455183  
    Reactome Protein details: Q15274

    QPRT Human Recombinant Protein Products:

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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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    5 InterPro protein domains:
     IPR013785 Aldolase_TIM
     IPR004393 NadC
     IPR002638 Quinolinate_PRibosylTrfase_C
     IPR027277 NadC/ModD
     IPR022412 Quinolinate_PRibosylTrfase_N

    Graphical View of Domain Structure for InterPro Entry Q15274

    ProtoNet protein and cluster: Q15274

    1 Blocks protein domain: IPB002638 Quinolinate phosphoribosyl transferase

    UniProtKB/Swiss-Prot: NADC_HUMAN, Q15274
    Similarity: Belongs to the NadC/ModD family


    Find genes that share domains with QPRT           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: NADC_HUMAN, Q15274
    Function: Involved in the catabolism of quinolinic acid (QA)
    Catalytic activity: Beta-nicotinate D-ribonucleotide + diphosphate + CO(2) = pyridine-2,3-dicarboxylate +
    5-phospho-alpha-D-ribose 1-diphosphate
    Enzyme regulation: Activity toward QA is slightly repressed by phosphoribosylpyrophosphate (PRPP) in both a
    competitive and a non-competitive manner
    Biophysicochemical properties: Kinetic parameters: KM=21 uM for QA (at 0.1 mM PRPP); KM=23 uM for QA (at 0.3 mM
    PRPP); Vmax=1.2 uM/min/mg enzyme (at 0.3 mM QA and 0.1 mM PRPP); Vmax=0.93 uM/min/mg enzyme (at 0.3 mM QA and 0.3
    mM PRPP);

         Enzyme Number (IUBMB): EC 2.4.2.191 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004514nicotinate-nucleotide diphosphorylase (carboxylating) activity IDA17868694
    GO:0016763transferase activity, transferring pentosyl groups ----
    GO:0042803protein homodimerization activity IDA17868694
         
    Find genes that share ontologies with QPRT           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for QPRT:
     Decreased cilium length after  

    Animal Models:
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    miRTarBase miRNAs that target QPRT:
    hsa-mir-335-5p (MIRT017727), hsa-mir-423-3p (MIRT042601), hsa-mir-1226-3p (MIRT036528), hsa-mir-26b-5p (MIRT029367)

    Block miRNA regulation of human, mouse, rat QPRT using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate QPRT:
    hsa-miR-588 hsa-miR-4252
    SwitchGear 3'UTR luciferase reporter plasmidQPRT 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
    cytosol4
    extracellular2
    plasma membrane2
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--

    Find genes that share ontologies with QPRT           About GenesLikeMe


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

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Nicotinate and nicotinamide metabolism
    Nicotinate and nicotinamide metabolism0.43
    NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde0.00
    NAD metabolism0.43
    Nicotinate metabolism0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Metabolism of vitamins and cofactors1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    4tryptophan utilization II
    tryptophan utilization II0.71
    NAD de novo biosynthesis0.00
    tryptophan utilization I0.71
    5Disease
    Disease


    Find genes that share SuperPaths with QPRT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for QPRT
        NAD metabolism

    4 BioSystems Pathways for QPRT
        NAD de novo biosynthesis
    NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde
    tryptophan utilization II
    tryptophan utilization I


    1 Reactome Pathway for QPRT
        Nicotinate metabolism


    2 Kegg Pathways  (Kegg details for QPRT):
        Nicotinate and nicotinamide metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: NADC_HUMAN, Q15274
    Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; nicotinate D-ribonucleotide from quinolinate: step 1/1

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

        Search GeneGlobe Interaction Network for QPRT

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

    Selected Interacting proteins for QPRT (Q152742, 3 ENSP000003787824) via UniProtKB, MINT, STRING, and/or I2D (see all 33)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SUFUQ9UMX12, 3, ENSP000003589184MINT-66091 I2D: score=5 STRING: ENSP00000358918
    KRTAP4-12Q9BQ662, 3, ENSP000003775824MINT-66042 I2D: score=5 STRING: ENSP00000377582
    IDH3GP515533, ENSP000002179014I2D: score=1 STRING: ENSP00000217901
    IDH3AP502133, ENSP000002995184I2D: score=1 STRING: ENSP00000299518
    KPNA6O606843I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0009435NAD biosynthetic process IEA--
    GO:0019363pyridine nucleotide biosynthetic process ----
    GO:0019674NAD metabolic process TAS--

    Find genes that share ontologies with QPRT           About GenesLikeMe



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

    Browse Tocris compounds for QPRT (NADC)

    8 HMDB Compounds for QPRT    About this table
    CompoundSynonyms CAS #PubMed Ids
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    Nicotinic acid mononucleotide3-Carboxy-1-beta-D-ribofuranosylpyridinium hydroxide 5'-phosphate inner salt (see all 23)321-02-8--
    Phosphoribosyl pyrophosphate5-Phospho-a-D-ribose-1-diphosphate (see all 37)7540-64-9--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    PyridineAzabenzene (see all 6)110-86-1--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    Quinolinic acidpyridine-2,3-carboxylate (see all 10)89-00-9--

    1 DrugBank Compound for QPRT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Niacin3-Pyridinecarboxylic acid (see all 9)59-67-6targetbinder15837705 15753098 11758903

    3 Novoseek inferred chemical compound relationships for QPRT gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    namn 96.7 4 9016724 (2), 11145065 (1)
    quinolinic acid 89.9 26 9016724 (3), 11145065 (2), 17868694 (2), 16472078 (2) (see all 11)
    niacin 52.4 3 15837705 (1), 9473669 (1)



    Find genes that share compounds with QPRT           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for QPRT gene: 
    NM_014298.3  

    Unigene Cluster for QPRT:

    Quinolinate phosphoribosyltransferase
    Hs.513484  [show with all ESTs]
    Unigene Representative Sequence: NM_014298
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000449759 ENST00000219771 ENST00000395384(uc002dto.3 uc010vdu.2)
    ENST00000562473 ENST00000564967
    miRNA
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    hsa-miR-588 hsa-miR-4252
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    Additional mRNA sequence: 

    AK293195.1 BC005060.1 BC010033.2 BC018910.2 BT007231.1 D78177.1 

    14 DOTS entries:

    DT.120696423  DT.414520  DT.120696998  DT.95137093  DT.100784782  DT.100659515  DT.100784778  DT.120696260 
    DT.95082378  DT.100009582  DT.120695401  DT.120696832  DT.455060  DT.92430926 

    Selected AceView cDNA sequences (see all 264):

    AW263079 BI870607 AA421560 BG820380 BQ223326 BU501515 BM711970 BM471758 
    J04536 BP373131 BC018910 BU501237 BG327095 AW059610 AW293885 AI383718 
    AA343173 BC012350 CR600977 AA309681 BC010033 CR601465 CR594408 AL531128 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for QPRT    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c
    SP1:                                                                              
    SP2:                                                                              
    SP3:                                      -     -     -                           
    SP4:        -                                                                     
    SP5:                                -     -     -     -                           


    ECgene alternative splicing isoforms for QPRT

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


    QPRT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
     
     Liver (Hepatobiliary System)
     
     Adrenal Gland (Endocrine System)
     
     Kidney (Urinary System)
    QPRT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    QPRT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.513484
        Custom PCR Arrays for QPRT
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for QPRT

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

    Orthologs for QPRT gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Qprt1 , 5 quinolinate phosphoribosyltransferase1, 5 81.41(n)1
    84.01(a)1
      7 (69.33 cM)5
    673751  NM_133686.11  NP_598447.11 
     1271071145 
    lizard
    (Anolis carolinensis)
    Reptilia QPRT6
    quinolinate phosphoribosyltransferase
    56(a)
    1 ↔ 1
    GL343516.1(301415-304397)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004953321 nicotinate-nucleotide pyrophosphorylase [carboxylating]-like 55.32(n)
    54.39(a)
      100495332  XM_002940590.2  XP_002940636.1 
    rainbow trout
    (Oncorhynchus mykiss)
    Actinopterygii Omy.87142 Oncorhynchus mykiss transcribed sequence with weak more 76.4(n)    BX314563.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BNA61 BNA6 51.44(n)
    47.57(a)
      850608   NP_602317.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons QPT1 QPT 45.76(n)
    37.71(a)
      814663  NM_001084396.1  NP_001077865.1 
    rice
    (Oryza sativa)
    Liliopsida Os09g05536001 Os09g0553600 43.91(n)
    36.57(a)
      4347802  NM_001070416.1  NP_001063881.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (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)
    About This Section

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    Selected SNPs for QPRT (see all 375)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1866362861,2
    --27349726(+) AGGTGC/TGGCAG 1 -- us2k10--------
    rs1478443321,2
    C--27350026(+) GGCTGA/CGGCAG 1 -- us2k10--------
    rs1919337331,2
    --27350281(+) GAAGGG/TAAGGG 1 -- us2k10--------
    rs770592331,2
    C--27350348(+) TCTCAA/GTTGGA 1 -- us2k10--------
    rs1469808061,2
    --27350349(+) CTCAGC/TTGGAC 1 -- us2k10--------
    rs791396141,2
    C,F--27350378(+) GCCATT/CACATT 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1836697061,2
    --27350558(+) GGGAGA/GGATGG 1 -- us2k10--------
    rs1145637361,2
    C,F--27350573(+) TCTGTA/GTGTCT 1 -- us2k11Minor allele frequency- G:0.07WA 118
    rs1877600411,2
    --27350668(+) GAGTCA/GCTGTG 1 -- us2k10--------
    rs1896954531,2
    --27350679(+) CCCAGA/CCTGTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for QPRT (29674600 - 29710020 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for QPRT:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833183CNV Loss17160897
    dgv34n68CNV Loss17160897
    esv23737CNV Gain19812545
    dgv845e1CNV Complex17122850

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606248    OMIM disorders: --

    3 diseases for QPRT:    
    About MalaCards
    pellagra    seizure disorder    follicular thyroid carcinoma

    1 disease from the University of Copenhagen DISEASES database for QPRT:
    Pellagra

    Find genes that share disorders with QPRT           About GenesLikeMe


    Export disorders for QPRT 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 QPRT gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with QPRT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization and functional expression of the cDNA encoding human brain quinolinate phosphoribosyltransferase. (PubMed id 9473669)1, 2, 3, 9 Fukuoka S.... Shibata K. (Biochim. Biophys. Acta 1998)
    2. Structural and kinetic characterization of quinolinate phosphoribosyltransferase (hQPRTase) from homo sapiens. (PubMed id 17868694)1, 2, 9 Liu H.... Naismith J.H. (J. Mol. Biol. 2007)
    3. 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)
    4. QPRT: a potential marker for follicular thyroid carcinoma including minimal invasive variant; a gene expression, RNA and immunohistochemical study. (PubMed id 19321014)1, 9 Hinsch N....Hansmann M.L. (BMC Cancer 2009)
    5. Changes in trigonelline (N-methylnicotinic acid) content and nicotinic acid metabolism during germination of mungbean (Phaseolus aureus) seeds. (PubMed id 15837705)7, 9 Zheng X.Q....Ashihara H. (J. Exp. Bot. 2005)
    6. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    7. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    (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: 23475 HGNC: 9755 AceView: SPNandQPRT Ensembl:ENSG00000103485 euGenes: HUgn23475
    ECgene: QPRT Kegg: 23475 H-InvDB: QPRT

    (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 QPRT Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for QPRT gene:
    Search GeneIP for patents involving QPRT

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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