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NAPRT1 Gene

protein-coding   GIFtS: 61
GCID: GC08M144656

Nicotinate Phosphoribosyltransferase Domain Containing 1

  See NAPRT1-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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 methylmalonic aciduria and homocystinuria type cble. GO annotations related to this gene include nicotinate phosphoribosyltransferase activity and ligase 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NC_018919.2  NT_008046.17  NT_187571.1  
Regulatory elements:
   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 Chromatin IP Primers for NAPRT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: PNCB_HUMAN, Q6XQN6 (See protein sequence)
Recommended Name: Nicotinate phosphoribosyltransferase  
Size: 538 amino acids; 57578 Da
Sequence caution: Sequence=AAH06284.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH32466.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
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: 

  • Ubiquitination2 at Lys396, Lys407, Lys421
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for NAPRT1 (Q6XQN6)
     LQLAEEP  GLRRAQGP  AVGVRLDSGDLLQQA 


    See NAPRT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001273758.1  NP_660202.3  

    ENSEMBL proteins: 
     ENSP00000405670   ENSP00000401508   ENSP00000341136   ENSP00000390949   ENSP00000437102  
     ENSP00000433245   ENSP00000276844  
    Reactome Protein details: Q6XQN6

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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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    3 InterPro protein domains:
     IPR002638 Quinolinate_PRibosylTrfase_C
     IPR006405 Nic_PRibTrfase_pncB
     IPR007229 Nic_PRibTrfase-Fam

    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


    Find genes that share domains with NAPRT1           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: 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
    Biophysicochemical properties: Kinetic parameters: KM=44.3 uM for nicotinic acid (in the presence of 3mM ATP);
    KM=22.1 uM for 5-phosphoribosyl-1-pyrophosphate (in the presence of 3mM ATP); KM=27.3 uM for nicotinic acid (in
    the presence of inorganic phosphate); KM=38.2 uM for 5-phosphoribosyl-1-pyrophosphate (in the presence of
    inorganic phosphate);

         Enzyme Numbers (IUBMB): EC 6.3.4.211 EC 2.4.2.112

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004514nicotinate-nucleotide diphosphorylase (carboxylating) activity IEA--
    GO:0004516nicotinate phosphoribosyltransferase activity TAS--
    GO:0016874ligase activity IEA--
         
    Find genes that share ontologies with NAPRT1           About GenesLikeMe


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

    Animal Models:
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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 UniProtKB/Swiss-Prot
    PNCB_HUMAN, Q6XQN6: Cytoplasm, cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    golgi apparatus4
    nucleus4
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005794Golgi apparatus ----
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with NAPRT1           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 NAPRT1 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Nicotinate and nicotinamide metabolism
    Nicotinate and nicotinamide metabolism0.43
    Nicotinate metabolism0.00
    Nicotinamide salvaging0.00
    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
    4Disease
    Disease


    Find genes that share SuperPaths with NAPRT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for NAPRT1
        Nicotinamide salvaging


    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NAPRT1
    Interactions:

        Search GeneGlobe Interaction Network for NAPRT1

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

    Selected Interacting proteins for NAPRT1 (Q6XQN63 ENSP000004015084) via UniProtKB, MINT, STRING, and/or I2D (see all 72)

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

    Gene Ontology (GO): Selected biological process terms (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--

    Find genes that share ontologies with NAPRT1           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 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--



    (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 NAPRT1 gene (2 alternative transcripts): 
    NM_001286829.1  NM_145201.5  

    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
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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:

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

    GeneLoc Exon Structure

    Selected 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™, 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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    NAPRT1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 3) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Stomach (Gastrointestinal Tract)
    NAPRT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NAPRT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.493164
        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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NAPRT1 gene from Selected species (see all 17)    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)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia naprt11 nicotinate phosphoribosyltransferase domain containing more 65.44(n)
    61.01(a)
      100127650  NM_001112995.1  NP_001106466.1 
    zebrafish
    (Danio rerio)
    Actinopterygii naprt11 nicotinate phosphoribosyltransferase domain containing more 58.62(n)
    56.7(a)
      393864  NM_200890.2  NP_957184.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37141 CG3714 53.45(n)
    47.13(a)
      33626  NM_001273086.1  NP_001260015.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y54G2A.171 Y54G2A.17 50.06(n)
    44.47(a)
      177070  NM_067864.4  NP_500265.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NAPRT11 NAPRT1 49.3(n)
    46.36(a)
      829848  NM_119858.6  NP_195412.3 
    rice
    (Oryza sativa)
    Liliopsida Os03g08373001 Os03g0837300 52.62(n)
    48.28(a)
      4334711  NM_001058366.1  NP_001051831.1 


    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

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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 NAPRT1 (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) Selected 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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611552    OMIM disorders: --

    12 diseases for NAPRT1:    
    About MalaCards
    pellagra    methylmalonic aciduria and homocystinuria type cble    methylmalonic aciduria and homocystinuria type cblg    methylmalonic aciduria and homocystinuria type cblc
    methylmalonic aciduria and homocystinuria type cbld    methylmalonic aciduria and homocystinuria type cblf    intrinsic factor deficiency    cblg
    cble    cbld    cblf    multiple carboxylase deficiency

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

    Find genes that share disorders with NAPRT1           About GenesLikeMe

    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)
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    PubMed articles for NAPRT1 gene, integrated from 10 sources (see all 25):
    (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. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 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. (J. Biol. Chem. 2007)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    4. 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)
    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. (J. Biol. Chem. 2012)
    6. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    7. Characterization of human nicotinate phosphoribosyltransferase: Kinetic studies, structure prediction and functional analysis by site- directed mutagenesis. (PubMed id 21742010)2 Galassi L.... Magni G. (Biochimie 2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. Expression patterns of nicotinamide phosphoribosyltransferase and nicotinic acid phosphoribosyltransferase in human malignant lymphomas. (PubMed id 21492230)1 Olesen U.H....Sehested M. (APMIS 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 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: 93100 HGNC: 30450 AceView: PP3856 Ensembl:ENSG00000147813 euGenes: HUgn93100
    ECgene: NAPRT1 Kegg: 93100 H-InvDB: NAPRT1

    (According to HUGE)
    About This Section

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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 NAPRT1 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 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



    (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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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