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NMNAT1 Gene

protein-coding   GIFtS: 67
GCID: GC01P010003

Nicotinamide Nucleotide Adenylyltransferase 1

(Previous names: nicotinamide nucleotide adenylyltransferase, Leber congenital...)
(Previous symbol: LCA9)
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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)
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Aliases
Nicotinamide Nucleotide Adenylyltransferase 11 2     PNAT12 5
LCA91 2 5     Leber Congenital Amaurosis 91
NMNAT2 3 5     Nicotinamide Nucleotide Adenylyltransferase1
Leber'S Congenital Amaurosis 91 2     Nicotinamide Mononucleotide Adenylyltransferase 12
Nicotinate-Nucleotide Adenylyltransferase 12 3     Pyridine Nucleotide Adenylyltransferase 12
NaMN Adenylyltransferase 12 3     EC 2.7.7.13
NMN Adenylyltransferase 12 3     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   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 Chromatin IP Primers for NMNAT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NMNAT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_073624.2  
    ENSEMBL proteins: 
     ENSP00000385131   ENSP00000366410   ENSP00000435134   ENSP00000467340  
    Reactome Protein details: Q9HAN9

    NMNAT1 Human Recombinant Protein Products:

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    ProSpec Recombinant Protein for NMNAT1
    Cloud-Clone Corp. Proteins for NMNAT1

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    LSBio Antibodies in human, mouse, rat for NMNAT1

    NMNAT1 Assay Products:

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    Cloud-Clone Corp. CLIAs for NMNAT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR014729 Rossmann-like_a/b/a_fold
     IPR004821 Cyt_trans-like
     IPR005248 NAMN_adtrnsfrase

    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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: Let us create your new Knockout/Knockin mouse model for NMNAT1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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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    miRTarBase miRNAs that target NMNAT1:
    hsa-mir-124-3p (MIRT022393)

    Block miRNA regulation of human, mouse, rat NMNAT1 using miScript Target Protectors
    4 qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat NMNAT1

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    Sino Biological Human cDNA Clone for NMNAT1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NMNAT1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NMNA1_HUMAN, Q9HAN9: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1
    golgi apparatus1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    NMNAT1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NMNAT1 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Nicotinate and nicotinamide metabolism
    Nicotinate and nicotinamide metabolism0.43
    NAD salvage0.00
    NAD metabolism0.43
    Nicotinate metabolism0.00
    NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Metabolism of vitamins and cofactors1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    4tryptophan utilization II
    tryptophan utilization II0.71
    NAD de novo biosynthesis0.00
    tryptophan utilization I0.71
    5Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for NMNAT1
        NAD metabolism

    5 BioSystems Pathways for NMNAT1
        NAD salvage
    NAD de novo biosynthesis
    NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde
    tryptophan utilization II
    tryptophan utilization I


    1 Reactome Pathway for NMNAT1
        Nicotinate metabolism


    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NMNAT1
    Interactions:

        GeneGlobe Interaction Network for NMNAT1

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

    Selected Interacting proteins for NMNAT1 (Q9HAN91, 3 ENSP000003664104) via UniProtKB, MINT, STRING, and/or I2D (see all 55)

    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): Selected biological process terms (see all 6):    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:0019674NAD metabolic process TAS--

    NMNAT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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)



    NMNAT1 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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

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    hsa-miR-544b hsa-miR-544 hsa-miR-885-5p hsa-miR-628-5p
    SwitchGear 3'UTR luciferase reporter plasmidNMNAT1 3' UTR sequence
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat NMNAT1
      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 

    Selected AceView cDNA sequences (see all 60):

    AA372222 BU173830 AF314163 BP339298 AI244413 AW004846 BM693812 AA307717 
    BI758308 BF059685 AA705016 NM_022787 BC014943 W72875 AI338620 BQ218886 
    AA716249 BF672353 BI003866 AI742166 BU738251 BX282101 BP379829 BC032483 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    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

    NMNAT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NMNAT1 Protein Expression

    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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for NMNAT1 gene from Selected species (see all 17)    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 NMNAT11 nicotinamide nucleotide adenylyltransferase 1 69.78(n)
    71.22(a)
      101748948  XM_004947451.1  XP_004947508.1 
    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
    61(a)
    1 ↔ 1
    23(29797483-29812723) ENSDARG00000055893
    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
    NMA21
    51.93(n)1
    46.35(a)1
      7(511545-512732)4
    8528931, 4  NP_011524.11, 4 


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NMNAT1 (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
    ----------
    rs1386134601,2,,4
    C,FLeber congenital amaurosis 9 (LCA9)4 --10050139(+) TCCTTG/ACTTGT 2 /T /A mis11Minor allele frequency- A:0.00NA 4552
    rs1507261751,2,,4
    C,FLeber congenital amaurosis 9 (LCA9)4 --10060660(+) GCTCTG/AAGAGT 2 /K /E mis12Minor allele frequency- A:0.00NA EU 5389
    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--------

    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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NMNAT1
    DNA2.0 Custom Variant and Variant Library Synthesis for NMNAT1

    (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.)
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    OMIM gene information: 608700   
    OMIM disorders: 608553  
    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

  • 18 diseases for NMNAT1:    
    About MalaCards
    wallerian degeneration    nmnat1-related leber congenital amaurosis    leber congenital amaurosis 9    leber congenital amaurosis 17
    hyperopia    optic atrophy    keratoconus    leber congenital amaurosis
    retinal degeneration    neuronitis    b-cell chronic lymphocytic leukemia    retinitis
    neuropathy    chronic lymphocytic leukemia    hiv-1    multiple myeloma
    myeloma    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)
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    PubMed articles for NMNAT1 gene, integrated from 10 sources (see all 79):
    (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. (FEBS Lett. 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. (J. Biol. Chem. 2001)
    3. NMNAT1 mutations cause Leber congenital amaurosis. (PubMed id 22842227)1, 2, 3 Falk M.J.... Pierce E.A. (Nat. Genet. 2012)
    4. 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. (J. Biol. Chem. 2002)
    5. Crystal structure of human nicotinamide mononucleotide adenylyltransferase in complex with NMN. (PubMed id 11959140)1, 2, 9 Werner E.... Heinemann U. (FEBS Lett. 2002)
    6. Structure of human NMN adenylyltransferase. A key nuclear enzyme for NAD homeostasis. (PubMed id 11751893)1, 2, 9 Garavaglia S.... Rizzi M. (J. Biol. Chem. 2002)
    7. 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. (Biochemistry 2007)
    8. Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms. (PubMed id 16118205)1, 2, 9 Berger F.... Ziegler M. (J. Biol. Chem. 2005)
    9. 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. (Gene 2002)
    10. 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. (Nat. Genet. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 64802 HGNC: 17877 AceView: NMNAT1 Ensembl:ENSG00000173614 euGenes: HUgn64802
    ECgene: NMNAT1 Kegg: 64802 H-InvDB: NMNAT1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NMNAT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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