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Aliases for NMNAT3 Gene

Aliases for NMNAT3 Gene

  • Nicotinamide Nucleotide Adenylyltransferase 3 2 3 5
  • Nicotinate-Nucleotide Adenylyltransferase 3 3 4
  • Pyridine Nucleotide Adenylyltransferase 3 3 4
  • NMN/NaMN Adenylyltransferase 3 3 4
  • NaMN Adenylyltransferase 3 3 4
  • NMN Adenylyltransferase 3 3 4
  • PNAT-3 3 4
  • Nicotinamide/Nicotinic Acid Mononucleotide Adenylyltransferase 3 3
  • Nicotinamide Mononucleotide Adenylyltransferase 3 3
  • Nicotinamide-Nucleotide Adenylyltransferase 3 4
  • EC 2.7.7.18 4
  • EC 2.7.7.1 4
  • FKSG76 3
  • PNAT3 3

External Ids for NMNAT3 Gene

Previous GeneCards Identifiers for NMNAT3 Gene

  • GC03U900263
  • GC03M140599
  • GC03M140761
  • GC03M139279
  • GC03M136654

Summaries for NMNAT3 Gene

Entrez Gene Summary for NMNAT3 Gene

  • This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

GeneCards Summary for NMNAT3 Gene

NMNAT3 (Nicotinamide Nucleotide Adenylyltransferase 3) is a Protein Coding gene. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include nucleotidyltransferase activity and nicotinamide-nucleotide adenylyltransferase activity. An important paralog of this gene is NMNAT1.

UniProtKB/Swiss-Prot for NMNAT3 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NMNAT3 Gene

Genomics for NMNAT3 Gene

Regulatory Elements for NMNAT3 Gene

Enhancers for NMNAT3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F139677 0.9 ENCODE 28.2 +0.2 195 1.4 ATF1 CREB3L1 ARID4B DMAP1 ZNF48 GTF3C2 GLIS2 SP3 SP5 MXD4 NMNAT3 COPB2 ACTG1P1 RN7SL724P
GH03F139653 1 Ensembl ENCODE 11.1 +23.6 23565 2.3 SOX13 TBP SAP130 TEAD4 DMAP1 ZNF644 TEAD3 POLR2A SCRT2 TCF7L2 NMNAT3 RN7SL724P
GH03F139600 0.6 ENCODE 10.3 +76.3 76288 1.9 SMARCE1 HDAC1 CTCF PKNOX1 ARNT HCFC1 CEBPB ZEB2 DPF2 REST NMNAT3 GC03P139607 GC03M139585 RN7SKP124
GH03F139763 0.2 ENCODE 5.9 -86.8 -86808 1.9 NMNAT3 CLSTN2 ENSG00000251471 GC03P139691 PIR55855
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NMNAT3 on UCSC Golden Path with GeneCards custom track

Promoters for NMNAT3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001375149 143 1400 ATF1 CREB3L1 ARID4B DMAP1 ZNF48 GTF3C2 GLIS2 SP3 SP5 MXD4

Genomic Location for NMNAT3 Gene

Chromosome:
3
Start:
139,560,180 bp from pter
End:
139,678,043 bp from pter
Size:
117,864 bases
Orientation:
Minus strand

Genomic View for NMNAT3 Gene

Genes around NMNAT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NMNAT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NMNAT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NMNAT3 Gene

Proteins for NMNAT3 Gene

  • Protein details for NMNAT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96T66-NMNA3_HUMAN
    Recommended name:
    Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3
    Protein Accession:
    Q96T66
    Secondary Accessions:
    • B3KVR6
    • D3DNF2
    • D3DNF3
    • Q8N4G1

    Protein attributes for NMNAT3 Gene

    Size:
    252 amino acids
    Molecular mass:
    28322 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for NMNAT3 Gene

    Alternative splice isoforms for NMNAT3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NMNAT3 Gene

Post-translational modifications for NMNAT3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NMNAT3 Gene

Domains & Families for NMNAT3 Gene

Protein Domains for NMNAT3 Gene

Graphical View of Domain Structure for InterPro Entry

Q96T66

UniProtKB/Swiss-Prot:

NMNA3_HUMAN :
  • Belongs to the eukaryotic NMN adenylyltransferase family.
Family:
  • Belongs to the eukaryotic NMN adenylyltransferase family.
genes like me logo Genes that share domains with NMNAT3: view

No data available for Gene Families for NMNAT3 Gene

Function for NMNAT3 Gene

Molecular function for NMNAT3 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=209 uM for NMN {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=130 uM for NAD(+) {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=29 uM for ATP {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=390 uM for PPi {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=276 uM for GTP {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=350 uM for ITP {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=111 uM for NaMN {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=130 uM for NMNH {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=2.01 uM for triazofurin monophosphate {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; Vmax=3.6 umol/min/mg enzyme for NAD synthesis {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; Vmax=12.8 umol/min/mg enzyme for pyrophosphorolytic NAD(+) cleavage {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; Vmax=2.9 umol/min/mg enzyme for pyrophosphorolytic NADH cleavage {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + nicotinamide ribonucleotide = diphosphate + NAD(+).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + beta-nicotinate-D-ribonucleotide = diphosphate + deamido-NAD(+).
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity is strongly inhibited by galotannin. Inhibited by P1-(adenosine-5)-P4-(nicotinic-acid-riboside-5)-tetraphosphate (Nap4AD).
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for NMNAT3 Gene

Gene Ontology (GO) - Molecular Function for NMNAT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000309 nicotinamide-nucleotide adenylyltransferase activity TAS --
GO:0003824 catalytic activity IEA --
GO:0004515 nicotinate-nucleotide adenylyltransferase activity IEA,IDA 16118205
GO:0005524 ATP binding IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with NMNAT3: view
genes like me logo Genes that share phenotypes with NMNAT3: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NMNAT3 Gene

Localization for NMNAT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NMNAT3 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NMNAT3 Gene COMPARTMENTS Subcellular localization image for NMNAT3 gene
Compartment Confidence
cytosol 5
mitochondrion 5
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for NMNAT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 16118205
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NMNAT3: view

Pathways & Interactions for NMNAT3 Gene

genes like me logo Genes that share pathways with NMNAT3: view

UniProtKB/Swiss-Prot Q96T66-NMNA3_HUMAN

  • Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; deamido-NAD(+) from nicotinate D-ribonucleotide: step 1/1.
  • Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from nicotinamide D-ribonucleotide: step 1/1.

Interacting Proteins for NMNAT3 Gene

Gene Ontology (GO) - Biological Process for NMNAT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009058 biosynthetic process IEA --
GO:0009435 NAD biosynthetic process IEA,IC 16118205
GO:0009611 response to wounding IEA --
GO:0019363 pyridine nucleotide biosynthetic process IEA --
GO:0019674 NAD metabolic process TAS --
genes like me logo Genes that share ontologies with NMNAT3: view

No data available for SIGNOR curated interactions for NMNAT3 Gene

Drugs & Compounds for NMNAT3 Gene

(7) Drugs for NMNAT3 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Alpha,Beta-Methyleneadenosine-5'-Triphosphate Experimental Pharma Target 0
Deamido-Nad+ Experimental Pharma Target 0
nicotinamide mononucleotide Experimental Pharma Target 0

(7) Additional Compounds for NMNAT3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
beta-nicotinamide D-ribonucleotide
Delphinidin 3-rhamnoside 5-glucoside
  • Delphinidin 5-glucoside 3-rhamnoside
53925-31-8
Nicotinamide ribotide
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-b-D-ribofuranosyl)-Pyridinium hydroxide inner salt
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-b-D-ribofuranosyl)-Pyridinium inner salt
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-delta-ribofuranosyl)-Pyridinium hydroxide inner salt
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-delta-ribofuranosyl)-Pyridinium inner salt
  • 3-Carbamoyl-1-b-D-ribofuranosylpyridinium hydroxide 5'-phosphate inner salt
1094-61-7
nicotinate beta-D-ribonucleotide
Nicotinic acid adenine dinucleotide
  • Deamido-NAD+
  • Deamidonicotinamide adenine dinucleoetide
  • Deamino-nad+
  • NAAD
  • NaADN
6450-77-7
genes like me logo Genes that share compounds with NMNAT3: view

Transcripts for NMNAT3 Gene

Unigene Clusters for NMNAT3 Gene

Nicotinamide nucleotide adenylyltransferase 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NMNAT3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d
SP1: -
SP2: - - -
SP3: - - - -
SP4: - - - -
SP5: - - -
SP6:

Relevant External Links for NMNAT3 Gene

GeneLoc Exon Structure for
NMNAT3
ECgene alternative splicing isoforms for
NMNAT3

Expression for NMNAT3 Gene

mRNA expression in normal human tissues for NMNAT3 Gene

Protein differential expression in normal tissues from HIPED for NMNAT3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (28.4), Salivary gland (8.5), and Heart (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NMNAT3 Gene



NURSA nuclear receptor signaling pathways regulating expression of NMNAT3 Gene:

NMNAT3

SOURCE GeneReport for Unigene cluster for NMNAT3 Gene:

Hs.208673

mRNA Expression by UniProt/SwissProt for NMNAT3 Gene:

Q96T66-NMNA3_HUMAN
Tissue specificity: Expressed in lung and spleen with lower levels in placenta and kidney.
genes like me logo Genes that share expression patterns with NMNAT3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for NMNAT3 Gene

Orthologs for NMNAT3 Gene

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

Orthologs for NMNAT3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NMNAT3 34 35
  • 98.91 (n)
dog
(Canis familiaris)
Mammalia NMNAT3 35
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nmnat3 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NMNAT3 35
  • 53 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NMNAT3 35
  • 52 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NMNAT3 35
  • 48 (a)
OneToOne
DTWD1 34
chicken
(Gallus gallus)
Aves NMNAT3 35
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NMNAT3 35
  • 27 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii NMNAT3 35
  • 39 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nmnat 35
  • 23 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NMA1 35
  • 18 (a)
ManyToMany
NMA2 35
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
ManyToMany
Species where no ortholog for NMNAT3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NMNAT3 Gene

ENSEMBL:
Gene Tree for NMNAT3 (if available)
TreeFam:
Gene Tree for NMNAT3 (if available)

Paralogs for NMNAT3 Gene

Paralogs for NMNAT3 Gene

(2) SIMAP similar genes for NMNAT3 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with NMNAT3: view

Variants for NMNAT3 Gene

Sequence variations from dbSNP and Humsavar for NMNAT3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1021600 -- 139,607,215(+) ctctg(C/T)actta intron-variant
rs1044903 -- 139,560,308(-) TAAAA(A/T)GGAAC intron-variant, utr-variant-3-prime
rs10513083 -- 139,578,813(+) CTGTA(A/G)GCTCT intron-variant
rs10547665 -- 139,665,727(+) AGAGA(-/AG)GAGAG intron-variant
rs10562785 -- 139,665,726(+) AACAG(-/GA)GAGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NMNAT3 Gene

Variant ID Type Subtype PubMed ID
esv3569023 CNV loss 25503493
nsv1118705 CNV duplication 24896259
nsv1141443 CNV duplication 24896259

Variation tolerance for NMNAT3 Gene

Residual Variation Intolerance Score: 30.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.61; 30.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NMNAT3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NMNAT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NMNAT3 Gene

Disorders for NMNAT3 Gene

Relevant External Links for NMNAT3

Genetic Association Database (GAD)
NMNAT3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NMNAT3

No disorders were found for NMNAT3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NMNAT3 Gene

Publications for NMNAT3 Gene

  1. Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis. (PMID: 12574164) Zhang X. … Zhang H. (J. Biol. Chem. 2003) 2 3 4 64
  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. (PMID: 17402747) Sorci L. … Magni G. (Biochemistry 2007) 3 4 64
  3. Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms. (PMID: 16118205) Berger F. … Ziegler M. (J. Biol. Chem. 2005) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for NMNAT3 Gene

Sources for NMNAT3 Gene

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