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

NMNAT1 Gene

protein-coding   GIFtS: 68
GCID: GC01P010003

Nicotinamide Nucleotide Adenylyltransferase 1

(Previous name: nicotinamide nucleotide adenylyltransferase)
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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 11 2     LCA92
Nicotinate-Nucleotide Adenylyltransferase 12 3     PNAT12
NMNAT2 3     Nicotinamide Mononucleotide Adenylyltransferase 12
NaMN Adenylyltransferase 12 3     Pyridine Nucleotide Adenylyltransferase 12
NMN Adenylyltransferase 12 3     EC 2.7.7.13
Nicotinamide Nucleotide Adenylyltransferase1     EC 2.7.7.183

External Ids:    HGNC: 178771   Entrez Gene: 648022   Ensembl: ENSG000001736147   OMIM: 6087005   UniProtKB: Q9HAN93   

Export aliases for NMNAT1 gene to outside databases

Previous GC identifers: GC01P009612 GC01P009713 GC01P009938 GC01P009158


(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 NMNAT1 Gene:
This gene encodes an enzyme which catalyzes a key step in the biosynthesis of the coenzyme NAD. The encoded
protein is one of several nicotinamide nucleotide adenylyltransferases. Studies in Drosophila and mammalian
neurons have shown the encoded protein can confer protection to damaged neurons. This protection requires
enzymatic activity which increases NAD levels and activates a nuclear deacetylase which is the protective
molecule. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14 and 15. (provided by RefSeq, Dec 2011)

GeneCards Summary for NMNAT1 Gene: 
NMNAT1 (nicotinamide nucleotide adenylyltransferase 1) is a protein-coding gene. Diseases associated with NMNAT1 include wallerian degeneration, and nmnat1-related leber congenital amaurosis, and 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 NMNAT3.

UniProtKB/Swiss-Prot: NMNA1_HUMAN, Q9HAN9
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. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of
NAD(+). For the pyrophosphorolytic activity, prefers NAD(+) and NAAD as substrates and degrades NADH, nicotinic
acid adenine dinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less effectively. Fails to
cleave phosphorylated dinucleotides NADP(+), NADPH and NAADP(+). Protects against axonal degeneration following
mechanical or toxic insults

Gene Wiki entry for NMNAT1 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_000001.10  NT_021937.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NMNAT1 gene promoter:
         HOXA9B   HOXA9   GR   Sox5   ISGF-3   POU6F1 (c2)   CREB   GR-alpha   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNMNAT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NMNAT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NMNAT1


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

Entrez Gene cytogenetic band: 1p36.22   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36.22

NMNAT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NMNAT1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P010003:  view genomic region     (about GC identifiers)

Start:
10,003,486 bp from pter      End:
10,045,559 bp from pter
Size:
42,074 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: NMNA1_HUMAN, Q9HAN9 (See protein sequence)
Recommended Name: Nicotinamide mononucleotide adenylyltransferase 1  
Size: 279 amino acids; 31932 Da
Cofactor: Divalent metal cations. Zinc confers higher activity as compared to magnesium
Subunit: Homohexamer. Interacts with ADPRT/PARP1
Subcellular location: Nucleus
5 PDB 3D structures from and Proteopedia for NMNAT1:
1GZU (3D)        1KKU (3D)        1KQN (3D)        1KQO (3D)        1KR2 (3D)    
Secondary accessions: B1AN63 Q8TAE9 Q9H247 Q9H6B6

Explore the universe of human proteins at neXtProt for NMNAT1: NX_Q9HAN9

Explore proteomics data for NMNAT1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HAN9

  • NMNAT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NMNAT1 Protein Expression
    REFSEQ proteins: NP_073624.2  
    ENSEMBL proteins: 
     ENSP00000385131   ENSP00000366410   ENSP00000435134   ENSP00000467340  
    Reactome Protein details: Q9HAN9
    Human Recombinant Protein Products for NMNAT1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for NMNAT1 (NMNAT-1)
    Enzo Life Sciences proteins for NMNAT1
    OriGene Purified Protein for NMNAT1
    OriGene Protein Over-expression Lysate for NMNAT1
    OriGene MassSpec for NMNAT1 
    OriGene Custom Protein Services for NMNAT1
    GenScript Custom Purified and Recombinant Proteins Services for NMNAT1
    Novus Biologicals NMNAT1 Proteins
    Novus Biologicals NMNAT1 Lysates
    Sino Biological Recombinant Protein for NMNAT1
    Sino Biological Cell Lysate for NMNAT1 
    ProSpec Recombinant Protein for NMNAT1
    Cloud-Clone Corp. Proteins for NMNAT1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11248244
    GO:0005654nucleoplasm TAS--

    NMNAT1 for ontologies           About GeneDecksing



    NMNAT1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals NMNAT1 Antibodies
    Abcam antibodies for NMNAT1
    Cloud-Clone Corp. Antibodies for NMNAT1 
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    LSBio Antibodies in human, mouse, rat for NMNAT1 

    Assay Products for NMNAT1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for NMNAT1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NMNAT1 
    Cloud-Clone Corp. CLIAs for NMNAT1


    (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 Q9HAN9

    ProtoNet protein and cluster: Q9HAN9

    1 Blocks protein domain: IPB004820 Cytidylyltransferase

    UniProtKB/Swiss-Prot: NMNA1_HUMAN, Q9HAN9
    Similarity: Belongs to the eukaryotic NMN adenylyltransferase family


    NMNAT1 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: NMNA1_HUMAN, Q9HAN9
    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. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of
    NAD(+). For the pyrophosphorolytic activity, prefers NAD(+) and NAAD as substrates and degrades NADH, nicotinic
    acid adenine dinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less effectively. Fails to
    cleave phosphorylated dinucleotides NADP(+), NADPH and NAADP(+). Protects against axonal degeneration following
    mechanical or toxic insults
    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=34 uM for NMN; KM=40 uM for ATP; KM=937 uM for PPi; KM=59 uM
    for NAD(+); Vmax=25 umol/min/mg enzyme for NAD synthesis; Vmax=60.5 umol/min/ug enzyme for NAD(+) cleavage;
    Vmax=8.5 umol/min/ug enzyme for NADH cleavage;

         Enzyme Numbers (IUBMB): EC 2.7.7.181 EC 2.7.7.11

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000309nicotinamide-nucleotide adenylyltransferase activity TAS--
    GO:0003824catalytic activity ----
    GO:0004515nicotinate-nucleotide adenylyltransferase activity IDA16118205
    GO:0005515protein binding IPI11248244
    GO:0005524ATP binding IEA--
         
    NMNAT1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NMNAT1:
     Increased circadian rhythm amp  Synthetic lethal with Ras 

         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Nmnat1):
     behavior/neurological  homeostasis/metabolism  mortality/aging  nervous system  no phenotypic analysis 
     vision/eye 

    NMNAT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nmnat1tm1.2Lcon for NMNAT1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NMNAT1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NMNAT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NMNAT1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NMNAT1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NMNAT1
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate NMNAT1:
    hsa-miR-544b hsa-miR-544 hsa-miR-885-5p hsa-miR-628-5p
    SwitchGear 3'UTR luciferase reporter plasmidNMNAT1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of NMNAT1

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene ORF clones in mouse, rat for NMNAT1
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    GenScript: all cDNA clones in your preferred vector: NMNAT1 (NM_022787)
    Sino Biological Human cDNA Clone for NMNAT1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NMNAT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NMNAT1
    Sirion Biotech Customized lentivirus for stable overexpression of NMNAT1 
                         Customized lentivirus expression plasmids for stable overexpression of NMNAT1 

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    Search LifeMap BioReagents cell lines for NMNAT1
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NMNAT1


    (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 NMNAT1 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 NMNAT1
        NAD metabolism


    1 GeneGo (Thomson Reuters) Pathway for NMNAT1
        NAD metabolism

    5/7 BioSystems Pathways for NMNAT1 (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 NMNAT1
        Nicotinate metabolism
    Metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors


    2         Kegg Pathways  (Kegg details for NMNAT1):
        Nicotinate and nicotinamide metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: NMNA1_HUMAN, Q9HAN9
    Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from nicotinamide D-ribonucleotide: step 1/1


    NMNAT1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NMNAT1

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

    5/47 Interacting proteins for NMNAT1 (Q9HAN91, 3 ENSP000003664104) via UniProtKB, MINT, STRING, and/or I2D (see all 47)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    OATP041813, ENSP000003578384I2D: score=6 STRING: ENSP00000357838
    WRNIP1Q96S553, ENSP000003701504I2D: score=5 STRING: ENSP00000370150
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    SIRT1Q96EB61, ENSP000002120154EBI-3917542,EBI-1802965 STRING: ENSP00000212015
    KPNA6O606843I2D: score=6 
    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 ----

    NMNAT1 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

    NMNAT1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NMNAT1 (NMNA1)

    9 HMDB Compounds for NMNAT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    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--

    3 DrugBank Compounds for NMNAT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Deamido-Nad+-- --target--17139284 17016423
    Nicotinamide Mononucleotide-- --target--17139284 17016423
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423

    10 Novoseek inferred chemical compound relationships for NMNAT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nicotinamide mononucleotide 96.1 24 7872964 (2), 11959140 (2), 8470897 (2), 11751893 (1) (see all 16)
    namn 95.2 10 11788603 (2), 19448972 (1), 11796112 (1), 16247974 (1) (see all 7)
    benzamide riboside 90 7 11966438 (3)
    naad 89.3 3 12117413 (1), 11788603 (1), 11796112 (1)
    tiazofurin 84 7 11788603 (2), 11966438 (2), 10390601 (1)
    nad+ 78.1 31 8572289 (2), 19478080 (2), 17402747 (1), 20457531 (1) (see all 9)
    nicotinamide 69.9 6 19448972 (1), 11788603 (1), 19478080 (1), 16914673 (1) (see all 5)
    niacin 48.7 3 8470897 (1), 16914673 (1)
    nadp+ 45 1 11788603 (1)
    atp 43.3 7 14516279 (1), 7872964 (1), 11248244 (1), 8572289 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about NMNAT1 / NMNA1

    (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 NMNAT1 gene: 
    NM_022787.3  

    Unigene Cluster for NMNAT1:

    Nicotinamide nucleotide adenylyltransferase 1
    Hs.633762  [show with all ESTs]
    Unigene Representative Sequence: NM_022787
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000403197 ENST00000377205(uc001aqp.3) ENST00000462686 ENST00000492735
    ENST00000496751

    miRNA
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    GenScript: all cDNA clones in your preferred vector: NMNAT1 (NM_022787)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NMNAT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NMNAT1
    Sirion Biotech Customized lentivirus for stable overexpression of NMNAT1 
                         Customized lentivirus expression plasmids for stable overexpression of NMNAT1 
    Primer
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    OriGene qPCR primer pairs and template standards for NMNAT1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NMNAT1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NMNAT1

    Additional mRNA sequence: 

    AF088049.1 AF312734.1 AF314163.1 AF459819.1 AK026065.1 AK222920.1 AK315640.1 BC032483.1 

    8 DOTS entries:

    DT.100811834  DT.445517  DT.70104559  DT.206714  DT.95161661  DT.65286775  DT.100726688  DT.428038 

    24/60 AceView cDNA sequences (see all 60):

    BI758308 BM693812 AA372222 AW004846 BU173830 AI244413 AA307717 AF314163 
    AA705016 BF059685 BP339298 W72875 AI338620 AK026065 NM_022787 AF459819 
    AF088049 BF672353 BG751629 BP372963 BI003866 BX118239 AI392757 W74399 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NMNAT1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b
    SP1:                                      -               
    SP2:                                                      
    SP3:                                -     -               


    ECgene alternative splicing isoforms for NMNAT1

    (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

    NMNAT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGGTGGTG
    NMNAT1 Expression
    About this image


    See NMNAT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NMNAT1

    SOURCE GeneReport for Unigene cluster: Hs.633762

    UniProtKB/Swiss-Prot: NMNA1_HUMAN, Q9HAN9
    Tissue specificity: Widely expressed with highest levels in skeletal muscle, heart and kidney. Also expressed in
    the liver pancreas and placenta. Widely expressed throughout the brain

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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 NMNAT1 gene from 8/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nmnat11 , 5 nicotinamide nucleotide adenylyltransferase 11, 5 81.89(n)1
    82.37(a)1
      4 (79.47 cM)5
    664541  NM_133435.11  NP_597679.11 
     1494675725 
    chicken
    (Gallus gallus)
    Aves RBP71 retinol binding protein 7, cellular 69.35(n)
    71.79(a)
      419447  XM_417606.3  XP_417606.3 
    lizard
    (Anolis carolinensis)
    Reptilia NMNAT16
    nicotinamide nucleotide adenylyltransferase 1
    32(a)
    1 ↔ 1
    3(27291628-27394841)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.157222 Xenopus laevis transcribed sequence with weak similarity more 75.52(n)    BX844470.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nmnat16
    nicotinamide nucleotide adenylyltransferase 1
    37(a)
    1 ↔ 1
    23(29797483-29812723)
    fruit fly
    (Drosophila melanogaster)
    Insecta Nmnat6
    Nicotinamide mononucleotide adenylyltransferase
    29(a)
    1 → many
    3R(20770959-20773122)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NMA2(YGR010W)4
    NMA21
    Nicotinic acid mononucleotide adenylyltransferase, more4
    Nma2p1
    51.93(n)1
    46.35(a)1
      7(511545-512732)4
    8528931, 4  NP_011524.11, 4 
    rice
    (Oryza sativa)
    Liliopsida Os02g08149001 hypothetical protein 50(n)
    46.36(a)
      4331124  NM_001055032.1  NP_001048497.1 


    ENSEMBL Gene Tree for NMNAT1 (if available)
    TreeFam Gene Tree for NMNAT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NMNAT1 gene
    NMNAT32  NMNAT22  
    2 SIMAP similar genes for NMNAT1 using alignment to 3 protein entries:     NMNA1_HUMAN (see all proteins):
    NMNAT3    NMNAT2

    NMNAT1 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for NMNAT1
    PGOHUM00000248242 PGOHUM00000247137 PGOHUM00000245053 PGOHUM00000238298 PGOHUM00000246097


    (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

    10/886 SNPs in NMNAT1 are shown (see all 886)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0688834
    Leber congenital amaurosis 9 (LCA9)4--see VAR_0688832 N D mis40--------
    VAR_0688604
    Leber congenital amaurosis 9 (LCA9)4--see VAR_0688602 M T mis40--------
    VAR_0688584
    Leber congenital amaurosis 9 (LCA9)4--see VAR_0688582 I N mis40--------
    VAR_0688774
    Leber congenital amaurosis 9 (LCA9)4--see VAR_0688772 I N mis40--------
    VAR_0688654
    Leber congenital amaurosis 9 (LCA9)4--see VAR_0688652 L H mis40--------
    VAR_0688784
    Leber congenital amaurosis 9 (LCA9)4--see VAR_0688782 R C mis40--------
    VAR_0688664
    Leber congenital amaurosis 9 (LCA9)4--see VAR_0688662 V G mis40--------
    VAR_0688754
    Leber congenital amaurosis 9 (LCA9)4--see VAR_0688752 I M mis40--------
    VAR_0688644
    Leber congenital amaurosis 9 (LCA9)4--see VAR_0688642 M V mis40--------
    VAR_0688564
    Leber congenital amaurosis 9 (LCA9)4--see VAR_0688562 V M mis40--------

    HapMap Linkage Disequilibrium report for NMNAT1 (10003486 - 10045559 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NMNAT1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv871610CNV Gain21882294


    Human Gene Mutation Database (HGMD): NMNAT1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608700    OMIM disorders: --

    UniProtKB/Swiss-Prot: NMNA1_HUMAN, Q9HAN9
  • Leber congenital amaurosis 9 (LCA9) [MIM:608553]: A severe dystrophy of the retina, typically becoming
    evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish
    or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 12 diseases for NMNAT1:    About MalaCards
    wallerian degeneration    nmnat1-related leber congenital amaurosis    leber congenital amaurosis 9    leber congenital amaurosis
    hyperopia    optic atrophy    keratoconus    retinal degeneration
    neuronitis    neuropathy    retinitis    leukemia

    1 disease from the University of Copenhagen DISEASES database for NMNAT1:
    Leber congenital amaurosis

    NMNAT1 for disorders           About GeneDecksing


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

    2 Novoseek inferred disease relationships for NMNAT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    wallerian degeneration 71 3 20126265 (1), 17113230 (1)
    neurodegenerative diseases 36.5 3 17113230 (1), 19355893 (1)

    Genetic Association Database (GAD): NMNAT1
    Human Genome Epidemiology (HuGE) Navigator: NMNAT1 (4 documents)

    Export disorders for NMNAT1 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 NMNAT1 gene, integrated from 9 sources (see all 77):
    (articles sorted by number of sources associating them with NMNAT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of recombinant human nicotinamide mononucleotide adenylyl transferase (NMNAT), a nuclear enzyme essential for NAD synthesis. (PubMed id 11248244)1, 2, 3, 9 Schweiger M.... Ziegler M. (2001)
    2. Molecular cloning, chromosomal localization, tissue mRNA levels, bacterial expression, and enzymatic properties of human NMN adenylyltransferase. (PubMed id 11027696)1, 2, 3, 9 Emanuelli M....Magni G. (2001)
    3. Structure of human nicotinamide/nicotinic acid mononucleotide adenylyltransferase. Basis for the dual substrate specificity and activation of the oncolytic agent tiazofurin. (PubMed id 11788603)1, 2, 9 Zhou T.... Zhang H. (2002)
    4. Crystal structure of human nicotinamide mononucleotide adenylyltransferase in complex with NMN. (PubMed id 11959140)1, 2, 9 Werner E.... Heinemann U. (2002)
    5. Structure of human NMN adenylyltransferase. A key nuclear enzyme for NAD homeostasis. (PubMed id 11751893)1, 2, 9 Garavaglia S.... Rizzi M. (2002)
    6. 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, 9 Sorci L.... Magni G. (2007)
    7. Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms. (PubMed id 16118205)1, 2, 9 Berger F.... Ziegler M. (2005)
    8. Human homologue of a gene mutated in the slow Wallerian degeneration (C57BL/Wld(s)) mouse. (PubMed id 11891043)1, 2, 9 Fernando F.S.... Coleman M.P. (2002)
    9. Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. (PubMed id 22842230)1, 2 Koenekoop R.K.... Chen R. (2012)
    10. Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. (PubMed id 22842229)1, 2 Perrault I.... Rozet J.M. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 64802 HGNC: 17877 AceView: NMNAT1 Ensembl:ENSG00000173614 euGenes: HUgn64802
    ECgene: NMNAT1 Kegg: 64802 H-InvDB: NMNAT1

    (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 NMNAT1 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 NMNAT1 gene:
    Search GeneIP for patents involving NMNAT1

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



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