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

NAPRT1 Gene

protein-coding   GIFtS: 59
GCID: GC08M144656

Nicotinate Phosphoribosyltransferase Domain Containing 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Nicotinate Phosphoribosyltransferase Domain Containing 11 2     Nicotinate Phosphoribosyltransferase2
Nicotinate Phosphoribosyltransferase Domain-Containing Protein 12 3     Nicotinic Acid Phosphoribosyltransferase2
NAPRTase2 3     EC 6.3.4.213
FHA-HIT-Interacting Protein2 3     FHIP3
PP38562     EC 2.4.2.118

External Ids:    HGNC: 304501   Entrez Gene: 931002   Ensembl: ENSG000001478137   OMIM: 6115525   UniProtKB: Q6XQN63   

Export aliases for NAPRT1 gene to outside databases

Previous GC identifers: GC08M144730 GC08M139908


(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 NAPRT1 Gene:
Nicotinic acid (NA; niacin) is converted by nicotinic acid phosphoribosyltransferase (NAPRT; EC 2.4.2.11) to NA
mononucleotide (NaMN), which is then converted to NA adenine dinucleotide (NaAD), and finally to nicotinamide
adenine dinucleotide (NAD), which serves as a coenzyme in cellular redox reactions and is an essential component
of a variety of processes in cellular metabolism including response to stress (Hara et al., 2007).(supplied by
OMIM, Mar 2008)

GeneCards Summary for NAPRT1 Gene: 
NAPRT1 (nicotinate phosphoribosyltransferase domain containing 1) is a protein-coding gene. Diseases associated with NAPRT1 include pellagra, and attention deficit hyperactivity disorder, and among its related super-pathways are Metabolic pathways and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include nicotinate phosphoribosyltransferase activity and nicotinate-nucleotide diphosphorylase (carboxylating) activity.

UniProtKB/Swiss-Prot: PNCB_HUMAN, Q6XQN6
Function: Catalyzes the conversion of nicotinic acid (NA) to NA mononucleotide (NaMN). Essential for NA to
increase cellular NAD levels and prevent oxidative stress of the cells
Function: Catalyzes the synthesis of beta-nicotinate D-ribonucleotide from nicotinate and 5-phospho-D-ribose
1-phosphate at the expense of ATP (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008046.16  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NAPRT1 gene promoter:
         NF-1/L   NF-1   Elk-1   GCNF   AP-4   HNF-4alpha1   YY1   CP2   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNAPRT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NAPRT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NAPRT1


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

NAPRT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NAPRT1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M144656:  view genomic region     (about GC identifiers)

Start:
144,656,955 bp from pter      End:
144,660,819 bp from pter
Size:
3,865 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PNCB_HUMAN, Q6XQN6 (See protein sequence)
Recommended Name: Nicotinate phosphoribosyltransferase  
Size: 538 amino acids; 57578 Da
Subcellular location: Cytoplasm, cytosol
Sequence caution: Sequence=AAH06284.2; Type=Erroneous initiation; Sequence=AAH32466.1; Type=Erroneous initiation;
Secondary accessions: A7BFI3 Q6PJL1 Q6XQN4 Q6XQN5 Q8N5E8 Q9BRG0
Alternative splicing: 3 isoforms:  Q6XQN6-1   Q6XQN6-2   Q6XQN6-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NAPRT1: NX_Q6XQN6

Explore proteomics data for NAPRT1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6XQN6

  • 3 DME Specific Peptides for NAPRT1 (Q6XQN6)
     LQLAEEP  GLRRAQGP  AVGVRLDSGDLLQQA 

    NAPRT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NAPRT1 Protein Expression
    REFSEQ proteins: NP_660202.3  
    ENSEMBL proteins: 
     ENSP00000405670   ENSP00000401508   ENSP00000341136   ENSP00000390949   ENSP00000437102  
     ENSP00000433245   ENSP00000276844  
    Reactome Protein details: Q6XQN6
    Human Recombinant Protein Products for NAPRT1: 
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    Novus Biologicals NAPRT1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NAPRT1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0005829cytosol TAS--

    NAPRT1 for ontologies           About GeneDecksing



    NAPRT1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR002638 Quinolinate_PRibosylTrfase_C
     IPR006405 Nic_PRibTrfase_put
     IPR007229 Nic_PRibTrfase-rel
     IPR015977 Nic_PRibTrfase-like

    Graphical View of Domain Structure for InterPro Entry Q6XQN6

    ProtoNet protein and cluster: Q6XQN6

    1 Blocks protein domain: IPB007229 Nicotinate phosphoribosyltransferase and related

    UniProtKB/Swiss-Prot: PNCB_HUMAN, Q6XQN6
    Similarity: Belongs to the NAPRTase family


    NAPRT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PNCB_HUMAN, Q6XQN6
    Function: Catalyzes the conversion of nicotinic acid (NA) to NA mononucleotide (NaMN). Essential for NA to
    increase cellular NAD levels and prevent oxidative stress of the cells
    Function: Catalyzes the synthesis of beta-nicotinate D-ribonucleotide from nicotinate and 5-phospho-D-ribose
    1-phosphate at the expense of ATP (By similarity)
    Catalytic activity: Nicotinate + 5-phospho-alpha-D-ribose 1-diphosphate + ATP + H(2)O = beta-nicotinate
    D-ribonucleotide + diphosphate + ADP + phosphate

         Enzyme Numbers (IUBMB): EC 6.3.4.211 EC 2.4.2.112

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004514nicotinate-nucleotide diphosphorylase (carboxylating) activity IEA--
    GO:0004516nicotinate phosphoribosyltransferase activity TAS--
    GO:0016874ligase activity IEA--
         
    NAPRT1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NAPRT1:
     Increased HPV18 LCR reporter a 

    Animal Models:
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NAPRT1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    3Nicotinate metabolism
    Nicotinate metabolism0.62
    4NAD metabolism
    Nicotinate and nicotinamide metabolism0.43
    5Nicotinamide salvaging
    Nicotinamide salvaging

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5        Reactome Pathways for NAPRT1
        Nicotinamide salvaging
    Nicotinate metabolism
    Metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors


    2         Kegg Pathways  (Kegg details for NAPRT1):
        Nicotinate and nicotinamide metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PNCB_HUMAN, Q6XQN6
    Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; nicotinate D-ribonucleotide from nicotinate: step 1/1


    NAPRT1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NAPRT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/19 Interacting proteins for NAPRT1 (Q6XQN63 ENSP000004015084) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBL1P287493I2D: score=1 
    NMNAT1ENSP000003664104STRING: ENSP00000366410
    NMNAT2ENSP000002877134STRING: ENSP00000287713
    NMNAT3ENSP000003405234STRING: ENSP00000340523
    NUDT12ENSP000002307924STRING: ENSP00000230792
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006769nicotinamide metabolic process TAS--
    GO:0006979response to oxidative stress IMP17604275
    GO:0009435NAD biosynthetic process IEA--

    NAPRT1 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for NAPRT1 (PNCB)

    2 HMDB Compounds for NAPRT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    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--

    Search CenterWatch for drugs/clinical trials and news about NAPRT1 / PNCB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NAPRT1 gene: 
    NM_145201.4  

    Unigene Cluster for NAPRT1:

    Nicotinate phosphoribosyltransferase domain containing 1
    Hs.493164  [show with all ESTs]
    Unigene Representative Sequence: AY214325
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000529179 ENST00000460623 ENST00000435154(uc003yyn.4 uc011lkh.2 uc003yyo.4)
    ENST00000449291(uc003yym.4) ENST00000498076 ENST00000464332 ENST00000340490
    ENST00000426292 ENST00000525583 ENST00000488096 ENST00000532645 ENST00000480946
    ENST00000491904 ENST00000462059 ENST00000276844
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: NAPRT1 (NM_145201)
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    Additional mRNA sequence: 

    AB242230.1 AF258565.1 AK097002.1 AY214325.1 AY214326.1 AY214327.1 BC006284.2 BC032466.1 

    14 DOTS entries:

    DT.95293101  DT.97813675  DT.75101665  DT.100751570  DT.100682281  DT.75101664  DT.120634731  DT.412214 
    DT.95120888  DT.100751572  DT.120634822  DT.92058858  DT.95213902  DT.97813644 

    22 AceView cDNA sequences:

    CR592925 BG824256 BM768570 AI476528 BG746868 BM818957 AW806801 AI458775 
    AW806800 CD671444 BG746945 BM818808 AW751138 AW516824 AI871064 AW806799 
    CA407797 AW806779 CR591708 BC006284 BM826760 NM_145201 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for NAPRT1 (see all 10)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b
    SP1:                    -                                         -                                                     -                     
    SP2:                    -                                         -                                                                           
    SP3:                    -                                         -                                                                           
    SP4:                    -                                         -                                                                           
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for NAPRT1

    (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

    NAPRT1 expression in normal human tissues (normalized intensities)      NAPRT1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCAGTTAG
    NAPRT1 Expression
    About this image


    NAPRT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   
     
     Stomach (Gastrointestinal Tract)    fully expand to see all 2 entries
             stomach, upper ; glandular cells   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Kidney (Urinary System)
             kidney ; cells in tubules   

    See NAPRT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NAPRT1

    SOURCE GeneReport for Unigene cluster: Hs.493164
        SABiosciences Custom PCR Arrays for NAPRT1
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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NAPRT1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Naprt11 , 5 nicotinate phosphoribosyltransferase domain containing more1, 5 81.96(n)1
    84.46(a)1
      15 (35.05 cM)5
    2236461  NM_172607.31  NP_766195.21 
     758909645 
    chicken
    (Gallus gallus)
    Aves NAPRT16
    nicotinate phosphoribosyltransferase domain contai...
    58(a)
    1 ↔ 1
    2(148445138-148451031)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    58(a)
    55(a)
    many → 1
    many → 1
    GL343511.1(23715-60261)
    GL345033.1(1-11972)
    zebrafish
    (Danio rerio)
    Actinopterygii naprt11 nicotinate phosphoribosyltransferase domain containing more 58.33(n)
    56.05(a)
      393864  NM_200890.1  NP_957184.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37146
    --
    36(a)
    1 ↔ 1
    2L(4189497-4198058)
    worm
    (Caenorhabditis elegans)
    Secernentea Y54G2A.176
    Nicotinate phosphoribosyltransferase
    40(a)
    1 ↔ 1
    IV(2872219-2890449)


    ENSEMBL Gene Tree for NAPRT1 (if available)
    TreeFam Gene Tree for NAPRT1 (if available)

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/229 SNPs in NAPRT1 are shown (see all 229)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs784526151,2
    C,F--144656977(+) GATTCG/CTGTTG 1 -- ut313Minor allele frequency- C:0.04WA NA EU 814
    rs1845086421,2
    C--144656998(+) GCCCCA/GCTCCG 1 -- ut310--------
    rs1903457671,2
    --144657002(+) CGCTCC/TGAGTC 1 -- ut310--------
    rs1155903411,2
    F--144657123(+) CGCACA/GGGGCA 1 -- int11Minor allele frequency- G:0.03WA 118
    rs779518141,2
    C--144657152(+) CCCCCC/GAACCT 1 -- int13Minor allele frequency- G:0.11NA EA 242
    rs1421725991,2
    C--144657252(+) GGGAGC/TGGCTC 2 P syn10--------
    rs22904171,2
    C,F,H--144657269(-) CCTCCG/CTGCAG 1 -- int1 ese3 trp317Minor allele frequency- C:0.30EA NS NA WA CSA 2273
    rs1512074871,2
    --144657270(+) TGCAGC/GGAGGA 1 -- int10--------
    rs3728971011,2
    C--144657299(+) TGGGGC/TTAGCT 1 -- int10--------
    rs3741693481,2
    C--144657309(+) TCCCAA/C/GTCAGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for NAPRT1 (144656955 - 144660819 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/24 variations for NAPRT1 (see all 24):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2738022CNV Deletion23290073
    esv2738021CNV Deletion23290073
    esv2738020CNV Deletion23290073
    dgv7932n71CNV Loss21882294
    nsv466000CNV Loss19166990
    dgv7924n71CNV Loss21882294
    nsv516210CNV Loss19592680
    dgv7936n71CNV Loss21882294
    nsv891734CNV Loss21882294
    nsv891722CNV Loss21882294


    Human Gene Mutation Database (HGMD): NAPRT1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NAPRT1
    DNA2.0 Custom Variant and Variant Library Synthesis for NAPRT1

    (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.)
    About This Section
    OMIM gene information: 611552    OMIM disorders: --

    4 diseases for NAPRT1:    About MalaCards
    pellagra    attention deficit hyperactivity disorder    pneumonia    tuberculosis

    1 disease from the University of Copenhagen DISEASES database for NAPRT1:
    Pellagra

    NAPRT1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NAPRT1

    Export disorders for NAPRT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NAPRT1 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with NAPRT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. (PubMed id 18821565)1, 4 Lasky-Su J....Faraone S.V. (2008)
    2. Elevation of Cellular NAD Levels by Nicotinic Acid and Involvement of Nicotinic Acid Phosphoribosyltransferase in Human Cells. (PubMed id 17604275)1, 2 Hara N.... Tsuchiya M. (2007)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    4. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    5. Inhibition of nicotinamide phosphoribosyltransferase ( NAMPT) activity by small molecule GMX1778 regulates reactive oxygen species (ROS )-mediated cytotoxicity in a p53- and nicotinic acid phosphoribosyltransferase1 (NAPRT1)-dependent manner. (PubMed id 22570471)1 Cerna D....Yoo S.S. (2012)
    6. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Expression patterns of nicotinamide phosphoribosyltra nsferase and nicotinic acid phosphoribosyltransferase in human malignant lympho mas. (PubMed id 21492230)1 Olesen U.H....Sehested M. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 93100 HGNC: 30450 AceView: PP3856 Ensembl:ENSG00000147813 euGenes: HUgn93100
    ECgene: NAPRT1 Kegg: 93100 H-InvDB: NAPRT1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NAPRT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NAPRT1 gene:
    Search GeneIP for patents involving NAPRT1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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