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

NADSYN1 Gene

protein-coding   GIFtS: 61
GCID: GC11P071164

NAD Synthetase 1

  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
NAD Synthetase 11 2     NAD(+) Synthase2
NAD(+) Synthetase2 3     EC 6.3.5.13
Glutamine-Dependent NAD Synthetase2     NAD(+) Synthase [Glutamine-Hydrolyzing]3
Glutamine-Dependent NAD(+) Synthetase2     

External Ids:    HGNC: 298321   Entrez Gene: 551912   Ensembl: ENSG000001728907   OMIM: 6082855   UniProtKB: Q6IA693   

Export aliases for NADSYN1 gene to outside databases

Previous GC identifers: GC11P071386 GC11P070890 GC11P070841 GC11P067459


(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 NADSYN1 Gene:
Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell
signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1)
catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).(supplied by
OMIM, Apr 2004)

GeneCards Summary for NADSYN1 Gene: 
NADSYN1 (NAD synthetase 1) is a protein-coding gene. Diseases associated with NADSYN1 include rickets, and intrahepatic cholangiocarcinoma, and among its related super-pathways are Nicotinate metabolism and NAD metabolism. GO annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds and NAD+ synthase (glutamine-hydrolyzing) activity.

Gene Wiki entry for NADSYN1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NADSYN1 gene promoter:
         NF-YA   C/EBPalpha   HEN1   CBF-A   CBF-B   HOXA5   CP1A   Pax-4a   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNADSYN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NADSYN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NADSYN1


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

Entrez Gene cytogenetic band: 11q13.4   Ensembl cytogenetic band:  11q13.4   HGNC cytogenetic band: 11q13.4

NADSYN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NADSYN1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P071164:  view genomic region     (about GC identifiers)

Start:
71,164,155 bp from pter      End:
71,235,153 bp from pter
Size:
70,999 bases      Orientation:
plus 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: NADE_HUMAN, Q6IA69 (See protein sequence)
Recommended Name: Glutamine-dependent NAD(+) synthetase  
Size: 706 amino acids; 79285 Da
Subunit: Homohexamer
Secondary accessions: Q86SN2 Q9HA25 Q9NVM8

Explore the universe of human proteins at neXtProt for NADSYN1: NX_Q6IA69

Explore proteomics data for NADSYN1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6IA69

  • NADSYN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NADSYN1 Protein Expression
    REFSEQ proteins: NP_060631.2  
    ENSEMBL proteins: 
     ENSP00000326424   ENSP00000437220   ENSP00000433472   ENSP00000432129   ENSP00000431515  
     ENSP00000437172   ENSP00000431820   ENSP00000433612   ENSP00000435570   ENSP00000443718  
    Reactome Protein details: Q6IA69
    Human Recombinant Protein Products for NADSYN1: 
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    Novus Biologicals NADSYN1 Proteins
    Novus Biologicals NADSYN1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NADSYN1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    NADSYN1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for NADSYN1 
    Cloud-Clone Corp. CLIAs for NADSYN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR003010 C-N_Hydrolase
     IPR022310 NAD/GMP_synthase
     IPR014729 Rossmann-like_a/b/a_fold
     IPR003694 NAD_synthase
     IPR014445 Gln-dep_NAD_synthase

    Graphical View of Domain Structure for InterPro Entry Q6IA69

    ProtoNet protein and cluster: Q6IA69

    2 Blocks protein domains:
    IPB003010 Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase
    IPB003694 NAD+ synthase


    UniProtKB/Swiss-Prot: NADE_HUMAN, Q6IA69
    Similarity: In the C-terminal section; belongs to the NAD synthetase family
    Similarity: Contains 1 CN hydrolase domain


    NADSYN1 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: NADE_HUMAN, Q6IA69
    Catalytic activity: ATP + deamido-NAD(+) + L-glutamine + H(2)O = AMP + diphosphate + NAD(+) + L-glutamate
    Biophysicochemical properties: Kinetic parameters: KM=0.49 mM for deamido-NAD(+); KM=0.089 mM for ATP; KM=1.44 mM
    for glutamine; KM=13.1 mM for ammonium; Vmax=0.99 nmol/min/ug enzyme deamido-NAD(+); Vmax=0.61 nmol/min/ug enzyme
    ATP; Vmax=0.70 nmol/min/ug enzyme glutamine; Vmax=1.04 nmol/min/ug enzyme ammonium;

         Enzyme Number (IUBMB): EC 6.3.5.11

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003952NAD+ synthase (glutamine-hydrolyzing) activity TAS--
    GO:0005524ATP binding IEA--
    GO:0016810hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds IEA--
         
    NADSYN1 for ontologies           About GeneDecksing


    Animal Models:
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NADSYN1


    (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 NADSYN1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Nicotinate metabolism
    Nicotinate metabolism0.62
    NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde0.62
    2NAD metabolism
    NAD metabolism0.43
    Nicotinate and nicotinamide metabolism0.43
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4tryptophan utilization II
    tryptophan utilization II0.70
    tryptophan utilization I0.70
    5Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for NADSYN1
        NAD metabolism


    1 GeneGo (Thomson Reuters) Pathway for NADSYN1
        NAD metabolism

    4 BioSystems Pathways for NADSYN1
        NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde
    NAD biosynthesis II (from tryptophan)
    tryptophan utilization II
    tryptophan utilization I

    4        Reactome Pathways for NADSYN1
        Nicotinate metabolism
    Metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors


    2         Kegg Pathways  (Kegg details for NADSYN1):
        Nicotinate and nicotinamide metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: NADE_HUMAN, Q6IA69
    Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from deamido-NAD(+) (L-Gln route): step 1/1


    NADSYN1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NADSYN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/26 Interacting proteins for NADSYN1 (Q6IA692, 3 ENSP000003264244) via UniProtKB, MINT, STRING, and/or I2D (see all 26)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYO15BQ96JP22, 3MINT-67535 I2D: score=1 
    CUTCQ9NTM92, 3, ENSP000003595074MINT-67318 I2D: score=4 STRING: ENSP00000359507
    NTMT1Q9BV863, ENSP000003615584I2D: score=2 STRING: ENSP00000361558
    UPF1Q929003, ENSP000002628034I2D: score=2 STRING: ENSP00000262803
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006807nitrogen compound metabolic process ----
    GO:0009435NAD biosynthetic process IEA--
    GO:0019674NAD metabolic process TAS--

    NADSYN1 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 NADSYN1 (NADE)

    10/11 HMDB Compounds for NADSYN1 (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    FamotidineAmfamox (see all 83)76824-35-6--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    L-Glutamine(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)56-85-9--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Nicotinic acid adenine dinucleotideNAAD (see all 9)6450-77-7--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    2 DrugBank Compounds for NADSYN1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--17139284 17016423
    L-Glutamine(S)-2,5-diamino-5-oxopentanoic acid (see all 4)56-85-9enzymesubstrate16954203

    Search CenterWatch for drugs/clinical trials and news about NADSYN1 / NADE

    (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 NADSYN1 gene: 
    NM_018161.4  

    Unigene Cluster for NADSYN1:

    NAD synthetase 1
    Hs.556986  [show with all ESTs]
    Unigene Representative Sequence: BC020977
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000534634 ENST00000319023(uc001oqn.3) ENST00000533612 ENST00000529120
    ENST00000528509(uc001oqm.3) ENST00000524949 ENST00000533769 ENST00000527538
    ENST00000525245 ENST00000525200(uc001oqo.3) ENST00000530534 ENST00000527852
    ENST00000529840 ENST00000530055(uc001oqp.3) ENST00000526039 ENST00000527227
    ENST00000531236 ENST00000524450
    miRNA
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    Additional mRNA sequence: 

    AB091316.1 AK001493.1 AK022436.1 AK055452.1 AK094022.1 AK097940.1 AK097946.1 AK225700.1 
    AL512694.1 BC003638.2 BC003666.2 BC020977.1 CR457286.1 

    21 DOTS entries:

    DT.413773  DT.100787908  DT.100036310  DT.95307509  DT.91741720  DT.95107745  DT.86844688  DT.100787916 
    DT.99930233  DT.120683340  DT.413775  DT.97802378  DT.99982468  DT.100787914  DT.120683339  DT.95107741 
    DT.97822559  DT.99964869  DT.87011015  DT.92012346  DT.97856969 

    24/263 AceView cDNA sequences (see all 263):

    BM728592 BQ008472 AI471222 BG272124 BM984883 AI744722 AI560989 BU689700 
    AJ628243 AI678027 CA444605 BX114068 NM_018161 BX283748 BG289242 CA487729 
    BI908307 BC015237 AI669045 AI927502 BU684632 AI658748 CD171950 AI344519 

    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™, 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

    NADSYN1 expression in normal human tissues (normalized intensities)      NADSYN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACAGACACA
    NADSYN1 Expression
    About this image


    NADSYN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             monocyte-derived macrophage   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Medulla Oblongata
             brain/hindbrain   
     
     Skeletal Muscle (Muscoskeletal System)
             tongue squamous cells   
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Oral Cavity (Muscoskeletal System)
             tongue squamous cells   

    See NADSYN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NADSYN1

    SOURCE GeneReport for Unigene cluster: Hs.556986
        SABiosciences Custom PCR Arrays for NADSYN1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NADSYN1

    (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 eukaryotes.

    Orthologs for NADSYN1 gene from 10/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nadsyn11 , 5 NAD synthetase 11, 5 83.5(n)1
    86.02(a)1
      7 (88.32 cM)5
    789141  NM_030221.11  NP_084497.11 
     1437955845 
    chicken
    (Gallus gallus)
    Aves NADSYN11 NAD synthetase 1 71.92(n)
    77.94(a)
      422983  NM_001006465.1  NP_001006465.1 
    lizard
    (Anolis carolinensis)
    Reptilia NADSYN16
    Uncharacterized protein
    75(a)
    1 ↔ 1
    1(55991771-56017056)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.327942 Xenopus laevis transcribed sequence with moderate similarity more 78.98(n)    BJ642288.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nadsyn11 NAD synthetase 1 66.81(n)
    71.9(a)
      798974  NM_001099253.1  NP_001092723.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG99401 CG9940 59.47(n)
    60(a)
      32328  NM_132685.1  NP_572913.1 
    worm
    (Caenorhabditis elegans)
    Secernentea qns-16
    Protein QNS-1, isoform a
    46(a)
    1 ↔ 1
    IV(10214984-10219308)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes QNS1(YHR074W)4
    QNS11
    Glutamine-dependent NAD(+) synthetase, essential for more4
    Qns1p1
    55.75(n)1
    59.26(a)1
      8(246193-248337)4
    8564731, 4  NP_011941.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G550901 NAD synthetase 53(n)
    52.76(a)
      841952  NM_104383.4  NP_175906.1 
    rice
    (Oryza sativa)
    Liliopsida Os.273992 Oryza sativa (japonica cultivar-group) cDNA clone0 more 72.67(n)    NM_186473.1 


    ENSEMBL Gene Tree for NADSYN1 (if available)
    TreeFam Gene Tree for NADSYN1 (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

    10/1438 SNPs in NADSYN1 are shown (see all 1438)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1148754671,2
    F--71162267(+) ATAGAC/TAGGAA 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1394912171,2
    --71162340(+) CCCCCA/GTTGAC 1 -- us2k10--------
    rs760967101,2
    C,F--71162518(+) AGAACG/AGACTC 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1904838571,2
    --71162582(+) GGTAAA/GTCAGG 1 -- us2k10--------
    rs786921981,2
    F--71162761(+) CAAGAG/AACTGA 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1830906511,2
    --71162782(+) TTTCTC/GCTAAT 1 -- us2k10--------
    rs115465091,2
    C,F,A--71162785(+) ctcctA/G/Tataag 1 -- us2k110NA WA CSA EA 371
    rs754661191,2
    --71162789(+) TAATAA/GGAGAC 1 -- us2k10--------
    rs1877850951,2
    --71162829(+) GACCCA/GTTAAT 1 -- us2k10--------
    rs1926048591,2
    --71162856(+) CCTGCA/GTGCCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NADSYN1 (71164155 - 71235153 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NADSYN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv74n21CNV Loss19592680
    nsv897898CNV Loss21882294
    nsv897897CNV Loss21882294
    nsv897896CNV Gain21882294

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    (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: 608285    OMIM disorders: --

    5 diseases for NADSYN1:    About MalaCards
    rickets    intrahepatic cholangiocarcinoma    cholangiocarcinoma    kidney disease
    tuberculosis


    NADSYN1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NADSYN1
    Human Genome Epidemiology (HuGE) Navigator: NADSYN1 (7 documents)

    Export disorders for NADSYN1 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 NADSYN1 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with NADSYN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular identification of human glutamine- and ammonia-dependent NAD synthetases. Carbon-nitrogen hydrolase domain confers glutamine dependency. (PubMed id 12547821)1, 2, 3, 9 Hara N.... Tsuchiya M. (2003)
    2. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (2010)
    3. Common genetic determinants of vitamin D insufficienc y: a genome-wide association study. (PubMed id 20541252)1, 4 Wang T.J....Spector T.D. (2010)
    4. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)1, 4 Yoshida T....Yamada Y. (2009)
    7. 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. (2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Association of vitamin D-related gene polymorphisms wi th manifestation of vitamin D deficiency in children. (PubMed id 22785457)1 Kitanaka S....Igarashi T. (2012)
    10. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)

    (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: 55191 HGNC: 29832 AceView: NADSYN1 Ensembl:ENSG00000172890 euGenes: HUgn55191
    ECgene: NADSYN1 Kegg: 55191 H-InvDB: NADSYN1

    (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 NADSYN1 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 NADSYN1 gene:
    Search GeneIP for patents involving NADSYN1

    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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