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

NMNAT3 Gene

protein-coding   GIFtS: 52
GCID: GC03M139279

nicotinamide nucleotide adenylyltransferase 3

 Explore 1 disease affiliated with
NMNAT3 via our new
 Human Malady Compendium 
Biological research products
for NMNAT3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Nicotinamide Nucleotide Adenylyltransferase 31 2     NaMN Adenylyltransferase 32 3
PNAT31 2 5     NMN Adenylyltransferase 32 3
Nicotinate-Nucleotide Adenylyltransferase 32 3     Nicotinamide Mononucleotide Adenylyltransferase 32
Pyridine Nucleotide Adenylyltransferase 32 3     EC 2.7.7.13
PNAT-32 3     EC 2.7.7.183

External Ids:    HGNC: 209891   Entrez Gene: 3495652   Ensembl: ENSG000001638647   OMIM: 6087025   UniProtKB: Q96T663   

Export aliases for NMNAT3 gene to outside databases

Previous GC identifers: GC03U900263 GC03M140599 GC03M140761 GC03M136654


(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 NMNAT3:
This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes
use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from
nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to
mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript
variants encoding multiple isoforms have been observed for this gene. (provided by RefSeq, Jan 2011)

UniProtKB/Swiss-Prot: NMNA3_HUMAN, Q96T66
Function: Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated
form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate
(TrMP) as substrate. Can also use GTP and ITP as nucleotide donors. Also catalyzes the reverse reaction, i.e. the
pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, can use NAD (+), NADH, NAAD, nicotinic
acid adenine dinucleotide phosphate (NHD), nicotinamide guanine dinucleotide (NGD) as substrates. Fails to cleave
phosphorylated dinucleotides NADP(+), NADPH and NAADP(+). Protects against axonal degeneration following injury




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NMNAT3 gene promoter:
         E2F-4   E2F-3a   E2F-5   NCX/Ncx   E2F-2   NF-kappaB   PPAR-alpha   E2F   E2F-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNMNAT3 promoter sequence
   Search SABiosciences Chromatin IP Primers for NMNAT3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NMNAT3


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

Entrez Gene cytogenetic band: 3q23   Ensembl cytogenetic band:  3q23   HGNC cytogenetic band: 3q23

NMNAT3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NMNAT3 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M139279:  view genomic region     (about GC identifiers)

Start:
139,279,022 bp from pter      End:
139,396,859 bp from pter
Size:
117,838 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NMNA3_HUMAN, Q96T66 (See protein sequence)
Recommended Name: Nicotinamide mononucleotide adenylyltransferase 3  
Size: 252 amino acids; 28322 Da
Cofactor: Divalent metal cations. Magnesium confers the highest activity
Subunit: Homotetramer
Subcellular location: Mitochondrion
6 PDB 3D structures from and Proteopedia for NMNAT3:
1NUP (3D)        1NUQ (3D)        1NUR (3D)        1NUS (3D)        1NUT (3D)        1NUU (3D)    
Secondary accessions: B3KVR6 D3DNF2 D3DNF3 Q8N4G1
Alternative splicing: 3 isoforms:  Q96T66-1   Q96T66-2   Q96T66-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NMNAT3: NX_Q96T66

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96T66

  • NMNAT3 Protein expression data from MOPED and PaxDb:    About this image 
    NMNAT3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001186976.1  NP_835471.1  

    ENSEMBL proteins: 
     ENSP00000423335   ENSP00000340523   ENSP00000412953   ENSP00000296202   ENSP00000425041  
     ENSP00000426357   ENSP00000427634   ENSP00000426375   ENSP00000384319   ENSP00000384684  
    Reactome Protein details: Q96T66
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    Uscn Proteins for NMNAT3

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA16118205
    GO:0005829cytosol TAS--

    NMNAT3 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NMNAT3 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR014729 Rossmann-like_a/b/a_fold
     IPR004821 Cyt_trans-like
     IPR005248 NAMN_adtrnsfrase

    Graphical View of Domain Structure for InterPro Entry Q96T66

    ProtoNet protein and cluster: Q96T66

    1 Blocks protein family: IPB004820 Cytidylyltransferase

    UniProtKB/Swiss-Prot: NMNA3_HUMAN, Q96T66
    Similarity: Belongs to the eukaryotic NMN adenylyltransferase family


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NMNA3_HUMAN, Q96T66
    Function: Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated
    form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate
    (TrMP) as substrate. Can also use GTP and ITP as nucleotide donors. Also catalyzes the reverse reaction, i.e. the
    pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, can use NAD (+), NADH, NAAD, nicotinic
    acid adenine dinucleotide phosphate (NHD), nicotinamide guanine dinucleotide (NGD) as substrates. Fails to cleave
    phosphorylated dinucleotides NADP(+), NADPH and NAADP(+). Protects against axonal degeneration following injury
    Catalytic activity: ATP + nicotinamide ribonucleotide = diphosphate + NAD(+)
    Catalytic activity: ATP + beta-nicotinate-D-ribonucleotide = diphosphate + deamido-NAD(+)
    Enzyme regulation: Activity is strongly inhibited by galotannin. Inhibited by
    P1-(adenosine-5')-P4-(nicotinic-acid-riboside-5')-tetraphosphate (Nap4AD)
    Biophysicochemical properties: Kinetic parameters: KM=209 uM for NMN; KM=130 uM for NAD(+); KM=29 uM for ATP; KM=390 uM
    for PPi; KM=276 uM for GTP; KM=350 uM for ITP; KM=111 uM for NaMN; KM=130 uM for NMNH; KM=2.01 uM for triazofurin
    monophosphate; Vmax=3.6 umol/min/mg enzyme for NAD synthesis; Vmax=12.8 umol/min/mg enzyme for pyrophosphorolytic
    NAD(+) cleavage; Vmax=2.9 umol/min/mg enzyme for pyrophosphorolytic NADH cleavage;

         Enzyme Numbers (IUBMB): EC 2.7.7.181 EC 2.7.7.11

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000309nicotinamide-nucleotide adenylyltransferase activity TAS--
    GO:0004515nicotinate-nucleotide adenylyltransferase activity IDA16118205
    GO:0005524ATP binding IEA--
    GO:0016779nucleotidyltransferase activity ----
         
    NMNAT3 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Nicotinate metabolism
    Nicotinate metabolism1.00
    NAD salvage pathway III0.30
    NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde0.62
    NAD salvage pathway II0.18
    NAD biosynthesis III0.50
    2NAD metabolism
    NAD metabolism1.00
    Nicotinate and nicotinamide metabolism0.43
    NAD metabolism1.00
    3Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    4Vitamin B5 (pantothenate) metabolism
    Metabolism of vitamins and cofactors0.21
    Metabolism of water-soluble vitamins and cofactors0.21
    5tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde
    NAD biosynthesis II (from tryptophan)0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for NMNAT3
        NAD metabolism


    1 GeneGo (Thomson Reuters) Pathway for NMNAT3
        NAD metabolism

    5 BioSystems Pathways for NMNAT3 
        NAD salvage pathway III
    NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde
    NAD salvage pathway II
    NAD biosynthesis II (from tryptophan)
    NAD biosynthesis III

    4        Reactome Pathways for NMNAT3
        Nicotinate metabolism
    Metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors


    2         Kegg Pathways  (Kegg details for NMNAT3):
        Nicotinate and nicotinamide metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: NMNA3_HUMAN, Q96T66
    Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from nicotinamide D-ribonucleotide: step 1/1


    NMNAT3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NMNAT3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/20 Interacting proteins for NMNAT3 (ENSP000003405234) via UniProtKB, MINT, STRING, and/or I2D (see all 20)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CD38ENSP000002262794STRING: ENSP00000226279
    ENPP1ENSP000003542384STRING: ENSP00000354238
    ENPP3ENSP000003502654STRING: ENSP00000350265
    NADKENSP000003416794STRING: ENSP00000341679
    NADSYN1ENSP000003264244STRING: ENSP00000326424
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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:0009611response to wounding IEA--
    GO:0019674NAD metabolic process TAS--

    NMNAT3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Browse Tocris compounds for NMNAT3

    8 HMDB Compounds for NMNAT3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    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--
    Nicotinamide ribotide3-(aminocarbonyl)-1-(5-O-phosphono-b-D-ribofuranosyl)-Pyridinium hydroxide inner salt (see all 15)1094-61-7--
    Nicotinic acid adenine dinucleotideNAAD (see all 9)6450-77-7--
    Nicotinic acid mononucleotide3-Carboxy-1-beta-D-ribofuranosylpyridinium hydroxide 5'-phosphate inner salt (see all 23)321-02-8--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    4 DrugBank Compounds for NMNAT3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha,Beta-Methyleneadenosine-5'-Triphosphate-- --target--17139284 17016423
    Deamido-Nad+-- --target--17139284 17016423
    Nicotinamide Mononucleotide-- --target--17139284 17016423
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about NMNAT3 / NMNA3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NMNAT3 gene (2 alternative transcripts): 
    NM_001200047.1  NM_178177.3  

    Unigene Cluster for NMNAT3:

    Nicotinamide nucleotide adenylyltransferase 3
    Hs.208673  [show with all ESTs]
    Unigene Representative Sequence: AK127477
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000506254(uc003etj.3 uc010hul.3 uc003etk.3 uc003etl.3)
    ENST00000339837 ENST00000413939 ENST00000296202 ENST00000511444 ENST00000507242
    ENST00000509447 ENST00000512391 ENST00000509291 ENST00000514703 ENST00000505779
    ENST00000509737 ENST00000509034 ENST00000511003 ENST00000406164 ENST00000406824


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    Additional cDNA sequence: 

    AF345564.1 AK123208.1 AK127477.1 BC034374.1 BC036218.1 BX649063.1 

    3 DOTS entries:

    DT.101983519  DT.213011  DT.75176519 

    24/63 AceView cDNA sequences (see all 63):

    BC036218 BU192858 BX088743 AF345564 AI142380 AA662455 AA232215 AI002138 
    AA676739 AK123208 BQ189491 CB068547 BF509120 AW009234 BX649063 BM906198 
    BI760361 BV201932 AA917773 BF507839 BI964038 BM544763 AW172570 AK127477 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for NMNAT3 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d
    SP1:                                      -                                       
    SP2:                          -           -     -                                 
    SP3:                                -     -     -     -                           
    SP4:                    -     -           -     -                                 
    SP5:                                      -     -     -                           


    ECgene alternative splicing isoforms for NMNAT3

    (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

    NMNAT3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    NMNAT3 Expression
    About this image
    See NMNAT3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NMNAT3

    SOURCE GeneReport for Unigene cluster: Hs.208673

    UniProtKB/Swiss-Prot: NMNA3_HUMAN, Q96T66
    Tissue specificity: Expressed in lung and spleen with lower levels in placenta and kidney

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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 eukaryotes.

    Orthologs for NMNAT3 gene from 8/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nmnat31 , 5 nicotinamide nucleotide adenylyltransferase 31, 5 83.74(n)1
    81.28(a)1
      9 (51.35 cM)5
    740801  NM_144533.21  NP_653116.11 
     982874355 
    chicken
    (Gallus gallus)
    Aves NMNAT31 nicotinamide nucleotide adenylyltransferase 3 61.11(n)
    60.78(a)
      424820  XM_422634.3  XP_422634.3 
    lizard
    (Anolis carolinensis)
    Reptilia NMNAT36
    --
    44(a)
    1 ↔ 1
    3(27310823-27340417)
    zebrafish
    (Danio rerio)
    Actinopterygii nmnat31 novel protein similar to vertebrate nicotinamide nucleotide more 59.2(n)
    54.23(a)
      572070  XM_695734.3  XP_700826.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nmnat1 Nicotinamide mononucleotide adenylyltransferase 53.68(n)
    46.67(a)
      42987  NM_170185.1  NP_733064.2 
    worm
    (Caenorhabditis elegans)
    Secernentea W06B3.11 Protein W06B3.1 48.47(n)
    41.38(a)
      189236  NM_077609.2  NP_510010.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NMNAT6
    nicotinamide mononucleotide adenylyltransferase
    21(a)
    1 → many
    5(22583985-22586347)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    cytidylyltransferase domain containing protein, ex...
    cytidylyltransferase domain containing protein, ex...
    21(a)
    16(a)
    many ↔ many
    many ↔ many
    9(10927395-10929717)
    2(34909922-34912117)


    ENSEMBL Gene Tree for NMNAT3 (if available)
    TreeFam Gene Tree for NMNAT3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NMNAT3 gene
    NMNAT12  NMNAT22  
    2 SIMAP similar genes for NMNAT3 using alignment to 7 protein entries:     NMNA3_HUMAN (see all proteins):
    NMNAT1    NMNAT2

    NMNAT3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/26 NCBI SNPs in NMNAT3 are shown (see all 26    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs725848751,2
    C--139280328(+) CTTGGA/-ATGTA 2 -- int11Minor allele frequency- -:0.00CSA 2
    rs1471246881,2
    C--139283108(+) CATGG-/TTACCT 2 -- int10--------
    rs1476197761,2
    C--139300145(+) GATGA-/TATTATGT 2 -- int10--------
    rs40847951,2
    C,F,A,H--139315760(+) TGTGTG/ATATAT 1 -- int13Minor allele frequency- A:0.25NA 8
    rs677362241,2
    C--139315772(-) TAAAA-/ATATATAT
    ATATATATAT
    ATATA
    2 -- int11Minor allele frequency- ATATATATATATATATAT:0.00NA 2
    rs780403281,2
    C--139324757(+) TGTGA-/TTTTTTT 1 -- int10--------
    rs743732661,2
    C--139326505(+) TTTAGT/-TTTTC 2 -- int11Minor allele frequency- -:0.00CSA 2
    rs106058741,2
    C--139327175(+) TACCT-/AACA  
            
    AACAC
    1 -- int11Minor allele frequency- AACA:0.00NA 2
    rs681046251,2
    C--139327175(+) TACCT-/AACA  
            
    AACAC
    1 -- int11Minor allele frequency- AACA:0.00CSA 2
    rs1444906881,2
    C--139328424(+) GTGTT-/TTAA  
            
    TTTGT
    2 -- int10--------

    HapMap Linkage Disequilibrium report for NMNAT3 (139279022 - 139396859 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NMNAT3: --

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    (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.)
    About This Section

    NMNAT3 for disorders           About GeneDecksing

    OMIM gene information: 608702    OMIM disorders: --

    1 disease for NMNAT3:    About MalaCards
    neurodegeneration


    Export disorders for NMNAT3 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 NMNAT3 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with NMNAT3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis. (PubMed id 12574164)1, 2, 3 Zhang X....Zhang H. (2003)
    2. Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis. (PubMed id 17402747)1, 2 Sorci L.... Magni G. (2007)
    3. Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms. (PubMed id 16118205)1, 2 Berger F.... Ziegler M. (2005)
    4. 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)
    5. Axon degeneration: Mechanisms and implications of a d istinct program from cell death. (PubMed id 20117162)1 Yan T....Zhai Q. (2010)
    6. Homology modeling and deletion mutants of human nicot inamide mononucleotide adenylyltransferase isozyme 2: new insights on structure and function relationship. (PubMed id 20954240)1 Brunetti L....Magni G. (2010)
    7. Unique expression pattern of human nicotinamide monon ucleotide adenylyltransferase isozymes in red blood cells. (PubMed id 20457531)1 Di Stefano M....Magni G. (2010)
    8. Isoform-specific targeting and interaction domains in human nicotinamide mononucleotide adenylyltransferases. (PubMed id 20388704)1 Lau C....Ziegler M. (2010)
    9. Nicotinamide/nicotinic acid mononucleotide adenylyltr ansferase, new insights into an ancient enzyme. (PubMed id 19448972)1 Zhai R.G....Garavaglia S. (2009)
    10. NAD synthase NMNAT acts as a chaperone to protect against neurodegeneration. (PubMed id 18344983)1 Zhai R.G....Bellen H.J. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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      Query String
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    OMIM
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      (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: 349565 HGNC: 20989 AceView: NMNAT3 Ensembl:ENSG00000163864 euGenes: HUgn349565
    ECgene: NMNAT3 Kegg: 349565 H-InvDB: NMNAT3

    (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 NMNAT3 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 NMNAT3 gene:
    Search GeneIP for patents involving NMNAT3

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



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