Description: Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. RefSeq Summary (NM_001200047): This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. Transcript (Including UTRs) Position: hg19 chr3:139,279,023-139,396,885 Size: 117,863 Total Exon Count: 4 Strand: - Coding Region Position: hg19 chr3:139,279,852-139,346,566 Size: 66,715 Coding Exon Count: 2
To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): NMNAT3 CDC HuGE Published Literature: NMNAT3 Positive Disease Associations: Brain
, Electrocardiography Related Studies:
Brain Sudha Seshadri et al. BMC medical genetics 2007, Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study., BMC medical genetics.
[PubMed 17903297]
Our results suggest that genes associated with clinical neurological disease also have detectable effects on subclinical phenotypes. These hypothesis generating data illustrate the use of an unbiased approach to discover novel pathways that may be involved in brain aging, and could be used to replicate observations made in other studies.
Electrocardiography Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics.
[PubMed 17903302]
These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96T66-3
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC036218 - Homo sapiens nicotinamide nucleotide adenylyltransferase 3, mRNA (cDNA clone MGC:39688 IMAGE:5270916), complete cds. BC034374 - Homo sapiens nicotinamide nucleotide adenylyltransferase 3, mRNA (cDNA clone MGC:35390 IMAGE:5185621), complete cds. AK123208 - Homo sapiens cDNA FLJ41214 fis, clone BRALZ2016498, highly similar to Nicotinamide mononucleotide adenylyltransferase 3 (EC 2.7.7.1). AF345564 - Homo sapiens FKSG76 (FKSG76) mRNA, complete cds. BX649063 - Homo sapiens mRNA; cDNA DKFZp779J1439 (from clone DKFZp779J1439). AK127477 - Homo sapiens cDNA FLJ45569 fis, clone BRTHA3010469, highly similar to Nicotinamide mononucleotide adenylyltransferase 3 (EC 2.7.7.1). JD245537 - Sequence 226561 from Patent EP1572962. JD131304 - Sequence 112328 from Patent EP1572962. JD261058 - Sequence 242082 from Patent EP1572962. JD092437 - Sequence 73461 from Patent EP1572962. JD299235 - Sequence 280259 from Patent EP1572962. JD148701 - Sequence 129725 from Patent EP1572962. DQ890804 - Synthetic construct clone IMAGE:100003434; FLH166068.01X; RZPDo839C0686D nicotinamide nucleotide adenylyltransferase 3 (NMNAT3) gene, encodes complete protein. CU689864 - Synthetic construct Homo sapiens gateway clone IMAGE:100016787 5' read NMNAT3 mRNA. KJ896125 - Synthetic construct Homo sapiens clone ccsbBroadEn_05519 NMNAT3 gene, encodes complete protein. DQ893959 - Synthetic construct Homo sapiens clone IMAGE:100008419; FLH166064.01L; RZPDo839C0685D nicotinamide nucleotide adenylyltransferase 3 (NMNAT3) gene, encodes complete protein. JD526436 - Sequence 507460 from Patent EP1572962. JD515484 - Sequence 496508 from Patent EP1572962. JD362834 - Sequence 343858 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00760 - Nicotinate and nicotinamide metabolism hsa01100 - Metabolic pathways
Reactome (by CSHL, EBI, and GO)
Protein Q96T66 (Reactome details) participates in the following event(s):
R-HSA-200474 NMNAT3 transfers an adenylyl group from ATP to NAMN to yield NAAD R-HSA-196807 Nicotinate metabolism R-HSA-196849 Metabolism of water-soluble vitamins and cofactors R-HSA-196854 Metabolism of vitamins and cofactors R-HSA-1430728 Metabolism