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Aliases for NMNAT1 Gene

Aliases for NMNAT1 Gene

  • Nicotinamide Nucleotide Adenylyltransferase 1 2 3
  • NMNAT 3 4 6
  • Nicotinamide-Nucleotide Adenylyltransferase 1 3 4
  • Nicotinate-Nucleotide Adenylyltransferase 1 3 4
  • NMN/NaMN Adenylyltransferase 1 3 4
  • NaMN Adenylyltransferase 1 3 4
  • NMN Adenylyltransferase 1 3 4
  • PNAT1 3 6
  • LCA9 3 6
  • Nicotinamide/Nicotinic Acid Mononucleotide Adenylyltransferase 1 3
  • Nicotinamide Mononucleotide Adenylyltransferase 1 3
  • Nicotinamide Nucleotide Adenylyltransferase 2
  • Pyridine Nucleotide Adenylyltransferase 1 3
  • Lebers Congenital Amaurosis 9 2
  • Leber Congenital Amaurosis 9 2
  • EC 2.7.7.18 4
  • EC 2.7.7.1 4

External Ids for NMNAT1 Gene

Previous Symbols for NMNAT1 Gene

  • LCA9

Summaries for NMNAT1 Gene

Entrez Gene Summary for NMNAT1 Gene

  • This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]

GeneCards Summary for NMNAT1 Gene

NMNAT1 (Nicotinamide Nucleotide Adenylyltransferase 1) is a Protein Coding gene. Diseases associated with NMNAT1 include leber congenital amaurosis 9 and wallerian degeneration. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include nicotinate-nucleotide adenylyltransferase activity and nicotinamide-nucleotide adenylyltransferase activity. An important paralog of this gene is NMNAT2.

UniProtKB/Swiss-Prot for NMNAT1 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. 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NMNAT1 Gene

Genomics for NMNAT1 Gene

Genomic Location for NMNAT1 Gene

Start:
9,943,428 bp from pter
End:
9,985,501 bp from pter
Size:
42,074 bases
Orientation:
Plus strand

Genomic View for NMNAT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NMNAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NMNAT1 Gene

Regulatory Elements for NMNAT1 Gene

Proteins for NMNAT1 Gene

  • Protein details for NMNAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAN9-NMNA1_HUMAN
    Recommended name:
    Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1
    Protein Accession:
    Q9HAN9
    Secondary Accessions:
    • B1AN63
    • Q8TAE9
    • Q9H247
    • Q9H6B6

    Protein attributes for NMNAT1 Gene

    Size:
    279 amino acids
    Molecular mass:
    31932 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Divalent metal cations. Zn(2+) confers higher activity as compared to Mg(2+).;
    Quaternary structure:
    • Homohexamer. Interacts with ADPRT/PARP1.

    Three dimensional structures from OCA and Proteopedia for NMNAT1 Gene

neXtProt entry for NMNAT1 Gene

Proteomics data for NMNAT1 Gene at MOPED

Post-translational modifications for NMNAT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NMNAT1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NMNAT1 Gene

Domains for NMNAT1 Gene

Protein Domains for NMNAT1 Gene

UniProtKB/Swiss-Prot:

NMNA1_HUMAN
Family:
  • Belongs to the eukaryotic NMN adenylyltransferase family.:
    • Q9HAN9
genes like me logo Genes that share domains with NMNAT1: view

No data available for Gene Families for NMNAT1 Gene

Function for NMNAT1 Gene

Molecular function for NMNAT1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=34 uM for NMN {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=40 uM for ATP {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=937 uM for PPi {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=59 uM for NAD(+) {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; Vmax=25 umol/min/mg enzyme for NAD synthesis {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; Vmax=60.5 umol/min/ug enzyme for NAD(+) cleavage {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; Vmax=8.5 umol/min/ug enzyme for 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. 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.

Enzyme Numbers (IUBMB) for NMNAT1 Gene

Gene Ontology (GO) - Molecular Function for NMNAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000309 nicotinamide-nucleotide adenylyltransferase activity TAS --
GO:0003824 catalytic activity --
GO:0004515 nicotinate-nucleotide adenylyltransferase activity IDA 16118205
GO:0005515 protein binding IPI 11248244
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with NMNAT1: view
genes like me logo Genes that share phenotypes with NMNAT1: view

Animal Models for NMNAT1 Gene

MGI Knock Outs for NMNAT1:

miRNA for NMNAT1 Gene

miRTarBase miRNAs that target NMNAT1

No data available for Transcription Factor Targeting and HOMER Transcription for NMNAT1 Gene

Localization for NMNAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NMNAT1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NMNAT1 Gene COMPARTMENTS Subcellular localization image for NMNAT1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
golgi apparatus 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NMNAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11248244
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with NMNAT1: view

Pathways for NMNAT1 Gene

SuperPathways for NMNAT1 Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Nicotinate and nicotinamide metabolism
3 tryptophan utilization II
4 Metabolism
5 Disease
genes like me logo Genes that share pathways with NMNAT1: view

UniProtKB/Swiss-Prot Q9HAN9-NMNA1_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

Gene Ontology (GO) - Biological Process for NMNAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0009058 biosynthetic process --
GO:0009435 NAD biosynthetic process IEA --
GO:0019674 NAD metabolic process TAS --
genes like me logo Genes that share ontologies with NMNAT1: view

Compounds for NMNAT1 Gene

(9) HMDB Compounds for NMNAT1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Magnesium
  • Magnesium
7439-95-4
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
Nicotinamide ribotide
  • 3-(aminocarbonyl)-1-(5-O-phosphono-b-D-ribofuranosyl)-Pyridinium hydroxide inner salt
1094-61-7

(3) Drugbank Compounds for NMNAT1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Deamido-Nad+
target
Nicotinamide Mononucleotide
target
Nicotinamide-Adenine-Dinucleotide
53-84-9 target

(10) Novoseek inferred chemical compound relationships for NMNAT1 Gene

Compound -log(P) Hits PubMed IDs
nicotinamide mononucleotide 96.1 19
namn 95.2 8
benzamide riboside 90 3
naad 89.3 3
tiazofurin 84 5
genes like me logo Genes that share compounds with NMNAT1: view

Transcripts for NMNAT1 Gene

Unigene Clusters for NMNAT1 Gene

Nicotinamide nucleotide adenylyltransferase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NMNAT1 Gene

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

Relevant External Links for NMNAT1 Gene

GeneLoc Exon Structure for
NMNAT1
ECgene alternative splicing isoforms for
NMNAT1

Expression for NMNAT1 Gene

mRNA expression in normal human tissues for NMNAT1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NMNAT1 Gene

SOURCE GeneReport for Unigene cluster for NMNAT1 Gene Hs.633762

mRNA Expression by UniProt/SwissProt for NMNAT1 Gene

Q9HAN9-NMNA1_HUMAN
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.
genes like me logo Genes that share expressions with NMNAT1: view

Orthologs for NMNAT1 Gene

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

Orthologs for NMNAT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NMNAT1 36
  • 99.86 (n)
  • 99.59 (a)
NMNAT1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NMNAT1 36
  • 87.29 (n)
  • 88.13 (a)
NMNAT1 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NMNAT1 36
  • 86.33 (n)
  • 86.69 (a)
NMNAT1 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nmnat1 36
  • 81.89 (n)
  • 82.37 (a)
Nmnat1 16
Nmnat1 37
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NMNAT1 37
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NMNAT1 37
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nmnat1 36
  • 80.94 (n)
  • 83.09 (a)
chicken
(Gallus gallus)
Aves NMNAT1 36
  • 69.78 (n)
  • 71.22 (a)
NMNAT1 37
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15722 36
tropical clawed frog
(Silurana tropicalis)
Amphibia nmnat1 36
  • 62.38 (n)
  • 61.4 (a)
zebrafish
(Danio rerio)
Actinopterygii nmnat1 37
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nmnat 37
  • 29 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR022C 36
  • 50.64 (n)
  • 46.35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NMA1 37
  • 26 (a)
ManyToMany
NMA2 36
  • 51.93 (n)
  • 46.35 (a)
NMA2 37
  • 27 (a)
ManyToMany
NMA2 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18051g 36
  • 51 (n)
  • 45.3 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC806.06c 36
  • 49.33 (n)
  • 45.74 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 44 (a)
ManyToMany
Species with no ortholog for NMNAT1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NMNAT1 Gene

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

Paralogs for NMNAT1 Gene

Paralogs for NMNAT1 Gene

Selected SIMAP similar genes for NMNAT1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with NMNAT1: view

Variants for NMNAT1 Gene

Sequence variations from dbSNP and Humsavar for NMNAT1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1129983 -- 9,985,126(+) TAATT(C/T)TTCTC utr-variant-3-prime
rs1129984 -- 9,985,160(+) CACCA(C/T)GGCAT utr-variant-3-prime
rs1129986 -- 9,985,171(+) CCACT(C/T)AGCTG utr-variant-3-prime
rs1129988 -- 9,985,186(+) GCTGC(A/G)TACAC utr-variant-3-prime
rs1129989 -- 9,985,219(+) ACTTC(A/G)TTTAC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for NMNAT1 Gene

Variant ID Type Subtype PubMed ID
nsv871610 CNV Gain 21882294

Relevant External Links for NMNAT1 Gene

HapMap Linkage Disequilibrium report
NMNAT1
Human Gene Mutation Database (HGMD)
NMNAT1

Disorders for NMNAT1 Gene

(1) OMIM Diseases for NMNAT1 Gene (608700)

UniProtKB/Swiss-Prot

NMNA1_HUMAN
  • 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. {ECO:0000269 PubMed:22842227, ECO:0000269 PubMed:22842229, ECO:0000269 PubMed:22842230, ECO:0000269 PubMed:22842231}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for NMNAT1 Gene

(2) Novoseek inferred disease relationships for NMNAT1 Gene

Disease -log(P) Hits PubMed IDs
wallerian degeneration 71 2
neurodegenerative diseases 36.5 2

Relevant External Links for NMNAT1

Genetic Association Database (GAD)
NMNAT1
Human Genome Epidemiology (HuGE) Navigator
NMNAT1
genes like me logo Genes that share disorders with NMNAT1: view

Publications for NMNAT1 Gene

  1. Molecular cloning, chromosomal localization, tissue mRNA levels, bacterial expression, and enzymatic properties of human NMN adenylyltransferase. (PMID: 11027696) Emanuelli M. … Magni G. (J. Biol. Chem. 2001) 2 3 4 23
  2. Characterization of recombinant human nicotinamide mononucleotide adenylyl transferase (NMNAT), a nuclear enzyme essential for NAD synthesis. (PMID: 11248244) Schweiger M. … Ziegler M. (FEBS Lett. 2001) 2 3 4 23
  3. Structure of human NMN adenylyltransferase. A key nuclear enzyme for NAD homeostasis. (PMID: 11751893) Garavaglia S. … Rizzi M. (J. Biol. Chem. 2002) 3 4 23
  4. Human homologue of a gene mutated in the slow Wallerian degeneration (C57BL/Wld(s)) mouse. (PMID: 11891043) Fernando F.S. … Coleman M.P. (Gene 2002) 3 4 23
  5. Crystal structure of human nicotinamide mononucleotide adenylyltransferase in complex with NMN. (PMID: 11959140) Werner E. … Heinemann U. (FEBS Lett. 2002) 3 4 23

Products for NMNAT1 Gene

Sources for NMNAT1 Gene

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