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

NMNAT3 Gene

protein-coding   GIFtS: 54
GCID: GC03M139279

Nicotinamide Nucleotide Adenylyltransferase 3

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(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
Nicotinamide Nucleotide Adenylyltransferase 31 2     NMN Adenylyltransferase 32 3
Nicotinate-Nucleotide Adenylyltransferase 32 3     PNAT32 5
Pyridine Nucleotide Adenylyltransferase 32 3     Nicotinamide Mononucleotide Adenylyltransferase 32
PNAT-32 3     EC 2.7.7.13
NaMN Adenylyltransferase 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 Gene:
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)

GeneCards Summary for NMNAT3 Gene: 
NMNAT3 (nicotinamide nucleotide adenylyltransferase 3) is a protein-coding gene. Among its related super-pathways are NAD salvage pathway III and NAD metabolism. GO annotations related to this gene include nicotinamide-nucleotide adenylyltransferase activity and nicotinate-nucleotide adenylyltransferase activity. An important paralog of this gene is NMNAT1.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
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:
139,396,885 bp from pter
Size:
117,864 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: 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

Explore proteomics data for NMNAT3 at MOPED 

Post-translational modifications:

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

  • NMNAT3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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
    Human Recombinant Protein Products for NMNAT3: 
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    Novus Biologicals NMNAT3 Proteins
    Novus Biologicals NMNAT3 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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



    NMNAT3 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
    3 InterPro protein domains:
     IPR004821 Cyt_trans-like
     IPR005248 NAMN_adtrnsfrase
     IPR014729 Rossmann-like_a/b/a_fold

    Graphical View of Domain Structure for InterPro Entry Q96T66

    ProtoNet protein and cluster: Q96T66

    1 Blocks protein domain: IPB004820 Cytidylyltransferase

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


    NMNAT3 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: 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): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000309nicotinamide-nucleotide adenylyltransferase activity TAS--
    GO:0003824catalytic activity ----
    GO:0004515nicotinate-nucleotide adenylyltransferase activity IDA16118205
    GO:0005524ATP binding IEA--
    GO:0016779nucleotidyltransferase activity ----
         
    NMNAT3 for ontologies           About GeneDecksing


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    SwitchGear 3'UTR luciferase reporter plasmidNMNAT3 3' UTR sequence
    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 NMNAT3 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Nicotinate metabolism
    Nicotinate metabolism0.62
    NAD biosynthesis III0.50
    NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde0.62
    NAD salvage pathway II0.42
    NAD salvage pathway III0.50
    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 NMNAT3
        NAD metabolism


    1 GeneGo (Thomson Reuters) Pathway for NMNAT3
        NAD metabolism

    5/7 BioSystems Pathways for NMNAT3 (see all 7)
        NAD salvage pathway III
    NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde
    NAD biosynthesis II (from tryptophan)
    NAD biosynthesis III
    NAD salvage pathway II

    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:0009058biosynthetic process ----
    GO:0009435NAD biosynthetic process IEA--
    GO:0009611response to wounding IEA--

    NMNAT3 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 NMNAT3 (NMNA3)

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

    Unigene Clusters for NMNAT3:

    Nicotinamide nucleotide adenylyltransferase 3
    Hs.208673  [show with all ESTs], Hs.745268  [show with all ESTs]
    Unigene Representative Sequences: NM_178177, 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 mRNA sequence: 

    AK123208.1 AK127477.1 BC036218.1 BX649063.1 

    8 DOTS entries:

    DT.101983519  DT.213011  DT.75176519  DT.75199714  DT.92416392  DT.97854978  DT.40126591  DT.40298207 

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

    AI142380 AF345564 BX088743 BU192858 BC036218 BV201932 BF197923 AA662455 
    NM_178177 T79582 AW249913 BI758722 T79660 AA809713 CB069824 CA774604 
    BM931466 AI913815 AI766230 BX091544 BI908510 AA917773 AW000784 BM019115 

    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)      NMNAT3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NMNAT3 Expression
    About this image


    NMNAT3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Proerythroblasts Hematopoietic Bone Marrow
             Bone Marrow CD105+ Cells   
     
     Testis (Reproductive System)
             sperm   
     
     Breast (Uncategorized)
             breast ductal cells   

    See NMNAT3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NMNAT3

    SOURCE GeneReport for Unigene clusters: Hs.208673 Hs.745268

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

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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 and fungi.

    Orthologs for NMNAT3 gene from 6/14 species (see all 14)    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 
    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 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NMA16
    NMA26
    Nicotinic acid mononucleotide adenylyltransferase,...
    Nicotinic acid mononucleotide adenylyltransferase,...
    18(a)
    17(a)
    many ↔ many
    many ↔ many
    XII(784913-786118)
    VII(511545-512732)


    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, 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

    10/2002 SNPs in NMNAT3 are shown (see all 2002)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs45649211,2
    C,F,A,H--136654003(+) TGCGGA/C/GGGGGG 2 -- ds50018NS NA WA CSA EA 485
    rs762985191,2
    C--136654029(+) CCTAAC/GGGGCC 2 -- ds50013Minor allele frequency- G:0.16CSA WA EA 239
    rs1835770981,2
    --136654077(+) GAACCA/GGAGTA 2 -- ds50010--------
    rs1141732251,2
    C,F--136654134(+) CAAGTA/TTAATG 2 -- ds50010--------
    rs1913641501,2
    --136654186(+) AATTTC/GGTAAC 2 -- ds50010--------
    rs1386855431,2
    --136654263(+) GCTATC/TGGCCC 2 -- ds50010--------
    rs98201441,2
    C,F--136654296(+) TTTGTG/ATGGCA 2 -- ds50014Minor allele frequency- A:0.08NA 126
    rs1493459791,2
    --136654336(+) CTACCC/TGGAAA 2 -- ds50010--------
    rs1847417351,2
    --136654342(+) GGAAAC/TACAAA 2 -- ds50010--------
    rs1462810151,2
    --136654364(+) ATGCCA/CGTTCA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for NMNAT3 (139279022 - 139396885 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NMNAT3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv877543CNV 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

    NMNAT3 for disorders           About MalaCards
    OMIM gene information: 608702    OMIM disorders: --


    NMNAT3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): NMNAT3

    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 20):
    (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
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    (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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