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NMNAT3 Gene

protein-coding   GIFtS: 49

GC03M136654
nicotinamide nucleotide adenylyltransferase 3
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

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

Aliases & Descriptions
nicotinamide nucleotide adenylyltransferase 31 2     NMN adenylyltransferase 32 3
PNAT31 2 5     nicotinamide mononucleotide adenylyltransferase 32
Pyridine nucleotide adenylyltransferase 32 3     PNAT-33
Nicotinate-nucleotide adenylyltransferase 32 3     EC 2.7.7.183
NaMN adenylyltransferase 32 3     EC 2.7.7.13

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

Export aliases for NMNAT3 gene to outside databases

Previous GC identifers: GC03U900263 GC03M140599 GC03M140761 GC03M139279


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NMNAT3:
The coenzyme NAD and its derivatives are involved in hundreds of metabolic redox reactions and are utilized in protein
ADP-ribosylation, histone deacetylation, and in some Ca(2+) signaling pathways. NMNAT (EC 2.7.7.1) is a central enzyme
in NAD biosynthesis, catalyzing the condensation of nicotinamide mononucleotide (NMN) or nicotinic acid mononucleotide
(NaMN) with the AMP moiety of ATP to form NAD or NaAD (Zhang et al., 2003 (PubMed 12574164)).(supplied by OMIM)

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NMNAT3 gene promoter:
         GCNF-2   GCNF-1   HNF-1A   Cdc5   FAC1   GATA-1   Chx10   Meis-1   HOXA9B   SRF   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for NMNAT3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M136654:  view genomic region     (about GC identifiers)

Start:
136,654,478 bp from pter
End:
136,772,283 bp from pter
Size:
117,806 bases
Orientation:
minus strand

1 alternative location:
Chr3- 139,279,022-139,396,859     
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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
PDB structures from and Proteopedia :
1NUP (3D)    1NUQ (3D)    1NUR (3D)    1NUS (3D)    1NUT (3D)    1NUU (3D)    
Secondary accessions: Q8N4G1
Alternative splicing: 2 isoforms:  Q96T66-1   Q96T66-2   

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

REFSEQ proteins: NP_835471.1  

ENSEMBL proteins: 
ENSP00000384319 ENSP00000426357 ENSP00000427634 ENSP00000340523 ENSP00000384684 ENSP00000426375 
ENSP00000425041 ENSP00000296202 ENSP00000423335 ENSP00000412953 


Human Recombinant Proteins 
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich
Browse R&D Systems for human recombinant proteins
Enzo Life Sciences proteins for NMNAT3
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
Browse OriGene Protein Over-expression Lysates
GenScript Custom Purified and Recombinant Proteins Services for NMNAT3 
Novus Biologicals Proteins for NMNAT3
Novus Biologicals Lysate for NMNAT3
Browse Sino Biological Recombinant Proteins
Browse ProSpec Recombinant Proteins

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

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

NMNAT3 for ontologies           About GeneDecksing



Antibodies for NMNAT3: 
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
GenScript Custom Superior Antibodies Services for NMNAT3 
Novus Biologicals Antibodies for NMNAT3
Browse antibodies at Epitomics

Assays for NMNAT3: 
Browse Kits and Assays available from Millipore
Browse ELISAs at Sigma-Aldrich
OriGene Custom Immunoassay Development 
Browse OriGene Fluorogenic Cell Assay Kits 
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for NMNAT3 
Browse Enzo Life Sciences for kits & assays
Uscn ELISAs and CLIAs for NMNAT3 


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

NMNAT3 for domains           About GeneDecksing

3 InterPro domains/families:
 IPR005248 NAMN_adtrnsfrase
 IPR014729 Rossmann-like_a/b/a_fold
 IPR004820 Cytidylyltransf

Graphical View of Domain Structure for InterPro Entry Q96T66

ProtoNet protein and cluster: Q96T66

1 Blocks protein family: IPB004820 Cytidylyltransferase

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


(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

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
Catalytic activity: ATP + nicotinamide ribonucleotide = diphosphate + NAD(+)
Catalytic activity: ATP + nicotinate 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 2.7.7.18  EC 2.7.7.1 

Inhib.
RNA:
    
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich esiRNA and siRNA for NMNAT3
Sigma-Aldrich shRNA for NMNAT3
OriGene 29mer shRNA kits in GFP-retroviral vector: NMNAT3
OriGene shRNA RFP: NMNAT3
OriGene basic RS shRNA: NMNAT3
OriGene siRNA: NMNAT3
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of NMNAT3 
miRNA:Sigma-Aldrich microRNA Mimics for NMNAT3
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of NMNAT3 
2 SABiosciences Assays for microRNAs that regulate NMNAT3:
hsa-miR-188-5p hsa-miR-1236

Gene
Editing:
Browse CompoZr Knockout ZFN at Sigma-Aldrich 

Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
Browse iPSC Reprogramming Factors at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector: NMNAT3
OriGene Myc/DDK tagged cDNA clones in CMV expression vector: NMNAT3
OriGene untagged cDNA clones in CMV expression vector: NMNAT3
OriGene 3'-UTR clone: NMNAT3 
Browse MicroRNA Expression Plasmids 
GenScript cDNA clone with any tag delivered in your preferred vector: NMNAT3 
Browse Sino Biological Human cDNA Clones

Cell
Lines:
  
GenScript Custom overexpressing Cell Line Services for NMNAT3 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0000166 nucleotide binding IEA--
GO:0000309 nicotinamide-nucleotide adenylyltransferase activity TAS--
GO:0004515 nicotinate-nucleotide adenylyltransferase activity IDA16118205
GO:0005524 ATP binding IEA--
GO:0016740 transferase activity IEA--
About this table

NMNAT3 for ontologies           About GeneDecksing


(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section


NMNAT3 for pathways           About GeneDecksing

1 Millipore Pathway for NMNAT3
    NAD metabolism

1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  NMNAT3
    Nicotinate and Nicotinamide Metabolism

2 Kegg Pathways  (Kegg details for NMNAT3):
    hsa00760 Nicotinate and nicotinamide metabolism
hsa01100 Metabolic pathways

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

    SABiosciences Custom Pathway-Focused PCR Arrays for NMNAT3 

    Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for NMNAT3
    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NMNAT3

5/20 Interacting proteins for NMNAT3 (ENSP000002962023) via UniProtKB, MINT, and/or STRING (see all 20)

InteractantInteraction Details
GeneCardExternal ID(s)
NADKENSP000003678903STRING: ENSP00000367890
QPRTENSP000002197713STRING: ENSP00000219771
BST1ENSP000003717833STRING: ENSP00000371783
C9orf95ENSP000003660073STRING: ENSP00000366007
CD38ENSP000002262793STRING: ENSP00000226279
About this table

5/7 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 7):

GO IDQualified GO termEvidencePubMed IDs
GO:0006766 vitamin metabolic process TAS--
GO:0006767 water-soluble vitamin metabolic process TAS--
GO:0009058 biosynthetic process IEA--
GO:0009435 NAD biosynthetic process IC16118205
GO:0019363 pyridine nucleotide biosynthetic process IEA--
About this table

NMNAT3 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section
Browse Small Molecules at Sigma-Aldrich
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NMNAT3


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib.
RNA:
     
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich esiRNA and siRNA for NMNAT3
Sigma-Aldrich shRNA for NMNAT3
OriGene 29mer shRNA kits in GFP-retroviral vector: NMNAT3
OriGene shRNA RFP: NMNAT3
OriGene basic RS shRNA: NMNAT3
OriGene siRNA: NMNAT3
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of NMNAT3 
miRNA: Sigma-Aldrich microRNA Mimics for NMNAT3
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of NMNAT3 
2 SABiosciences Assays for microRNAs that regulate NMNAT3:
hsa-miR-188-5p hsa-miR-1236
Clones: Browse FLAG tag genes at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector: NMNAT3
OriGene Myc/DDK tagged cDNA clones in CMV expression vector: NMNAT3
OriGene untagged cDNA clones in CMV expression vector: NMNAT3
OriGene 3'-UTR Clone: NMNAT3 
Browse OriGene MicroRNA Expression Plasmids 
GenScript cDNA clone with any tag delivered in your preferred vector: NMNAT3 
Primers: OriGene genome-wide validated SYBR primer pairs: NMNAT3
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for NMNAT3: PPH07995A

REFSEQ mRNAs for NMNAT3 gene: 

NM_178177.2  

Additional cDNA sequence: 

AF345564.1 AK123208.1 AK127477.1 BC034374.1 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):

AF345564 AI142380 BU192858 BC036218 BX088743 T79582 BM931466 AA809713 
BF507839 BX649063 AA917773 BM980641 BF197923 BI964038 AA514053 AA676739 
CB069824 BI908510 AK127477 BI758722 T79660 BM019115 AW249913 AI913815 

highest scoring ESTs for NMNAT3:

AA243119 AA833694 AW009234 CK903720 AA232215 AA514053 AA662455 AA676739 AA703131 AA703143 

Unigene Cluster for NMNAT3:

Nicotinamide nucleotide adenylyltransferase 3
Hs.208673  [show with all ESTs]
Unigene Representative Sequence: AK127477


GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for NMNAT3
16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000406164 ENST00000512391 ENST00000505779 ENST00000511003 ENST00000509291
ENST00000339837 ENST00000406824 ENST00000509447 ENST00000509737 ENST00000514703
ENST00000509034 ENST00000511444 ENST00000507242 ENST00000296202 ENST00000506254(uc003etj.2 uc003etk.2 uc003etl.2 uc010hul.2)
ENST00000413939

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

NMNAT3 expression in normal and diseased human tissues

1  / 2  / 3

6 probe-sets matching NMNAT3 gene

Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
58237_at2, 3 U95-B 1 0.88 1.00 0.97 0.83 AW009234 0.80 1.00 0.91 1
77748_at2, 3 U95-D 1 0.44 1.00 0.86 1.17 AA833694 0.80 1.00 0.91 1
228090_at2, 3 U133-B 1 0.91 1.00 -- -- AW249913 0.60 1.00 0.82 1
243738_at2, 3 U133-B 1 0.55 1.00 -- -- AW172570 0.60 1.00 0.82 1
228090_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
243738_at2 U133Plus2 1 0.55 1.00 -- -- -- -- -- -- --
About this table

NMNAT3 for expression           About GeneDecksing

Data from Genenote  (Publications) and GNF BioGPS
    About these images
NMNAT3 gene expression
NMNAT3 gene electronic northern expression
NMNAT3 gene sage expression
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.208673

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

Primers: OriGene genome-wide validated SYBR primer pairs: NMNAT3
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for NMNAT3: PPH07995A
    SABiosciences Custom PCR Arrays for NMNAT3 


(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for NMNAT3 gene from 5/11 species (see all 11)
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
NMNAT31   -- nicotinamide nucleotide adenylyltransferase 3 83.72(n)
76.74(a)
477091  XM_534286.2  XP_534286.2 
chimpanzee
(Pan troglodytes)
NMNAT31   -- nicotinamide nucleotide adenylyltransferase 3 98.91(n)
99.07(a)
460735  XM_001158899.1  XP_001158899.1 
cow
(Bos taurus)
NMNAT31   -- nicotinamide nucleotide adenylyltransferase 3 82.5(n)
76.5(a)
518138  XM_596322.3  XP_596322.3 
mouse
(Mus musculus)
Nmnat31 , 5 9 (51.35 cM)5
nicotinamide nucleotide adenylyltransferase 31, 5 83.74(n)1
81.28(a)1
740801  NM_144533.21  NP_653116.11 
 AK0167445  AK0407835  (see all 10)
chicken
(Gallus gallus)
NMNAT31   -- nicotinamide nucleotide adenylyltransferase 3 61.11(n)
60.78(a)
424820  XM_422634.2  XP_422634.2 
About this table        Species with no ortholog for NMNAT3

ENSEMBL Gene Tree for NMNAT3 (if available)

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
Paralogs for NMNAT3 gene
NMNAT22  NMNAT12  

NMNAT3 for paralogs           About GeneDecksing



(SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

10/974 NCBI SNPs in NMNAT3 are shown (see all 974)
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidChr 3 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
----------
rs83091,2
F139279149(+) AGTTCC/ATTTTT 1 -- ut311Minor allele frequency- A:0.01MN 184
rs474421,2
C,F,A,H,139307160(-) GTGCTC/TGTCGT 1 -- int120Minor allele frequency- T:0.29NS EA NA WA 1418
rs1671891,2
C,F,A,139295138(+) ATGCAA/GTTGGT 1 -- int120Minor allele frequency- G:0.26NS EA NA WA 1196
rs1698251,2
C,F,A,139280685(+) TAGGAA/GCTAGT 1 -- int115Minor allele frequency- G:0.27NS EA NA WA 1056
rs1698261,2
C,F,H,139282808(+) ATAAAG/ACTGAA 1 -- int117Minor allele frequency- A:0.17NS EA NA WA 982
rs1769911,2
--139285731(+) ttccaA/Gttctg 1 -- int10--------
rs1884171,2
C,F,139308878(+) tgacaG/Atatag 1 -- int111Minor allele frequency- A:0.03NS EA NA 918
rs1884181,2
--139310708(+) gatggA/Ggaaaa 1 -- int1 trp30--------
rs1884231,2
C,F,A,139290469(+) GGTAGC/TCCCTA 1 -- int19Minor allele frequency- T:0.31NS EA NA 584
rs1926891,2
C,F,139290811(+) ATGCTA/GTCTCC 1 -- int19Minor allele frequency- G:0.30NS EA NA 584
About this table

HapMap Linkage Disequilibrium images for NMNAT3 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for NMNAT3: --

QIAGEN SeqTarget long-range PCR primers for resequencing NMNAT3 

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NMNAT3 for disorders           About GeneDecksing

OMIM: 608702


Export disorders and mutations for NMNAT3 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section
  --

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
About This Section

10 PubMed articles for NMNAT3 gene integrated from 7 sources:
(articles sorted by number of sources associating them with NMNAT3)
  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. Unique expression pattern of human nicotinamide monon ucleotide adenylyltransferase isozymes in red blood cells. (PubMed id 20457531)1 Di Stefano M....Magni G. (2010)
  6. Isoform-specific targeting and interaction domains in human nicotinamide mononucleotide adenylyltransferases. (PubMed id 20388704)1 Lau C....Ziegler M. (2010)
  7. Enzymology of NAD+ homeostasis in man. (PubMed id 14704851)1 Magni G....Ruggieri S. (2004)
  8. 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 Zhou T.... Zhang H. (2002)
  9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
  10. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 349565 HGNC: 20989 AceView: NMNAT3 Ensembl:ENSG00000163864 euGenes: HUgn349565
ECgene: NMNAT3 Kegg: 349565 H-InvDB: NMNAT3

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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