U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Nmnat1 nicotinamide nucleotide adenylyltransferase 1 [ Mus musculus (house mouse) ]

Gene ID: 66454, updated on 21-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
Nmnat1provided by MGI
Official Full Name
nicotinamide nucleotide adenylyltransferase 1provided by MGI
Primary source
MGI:MGI:1913704
See related
Ensembl:ENSMUSG00000028992 AllianceGenome:MGI:1913704
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
nmnat; D4Cole1e; 2610529L11Rik; 5730441G13Rik
Summary
Enables nicotinamide-nucleotide adenylyltransferase activity and nicotinate-nucleotide adenylyltransferase activity. Involved in negative regulation of neuron death. Acts upstream of or within NAD biosynthetic process and response to wounding. Located in nucleus. Used to study Leber congenital amaurosis 9 and retinal degeneration. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 9 and spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis. Orthologous to human NMNAT1 (nicotinamide nucleotide adenylyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 10.9), thymus adult (RPKM 6.7) and 28 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
4 E2; 4 79.47 cM
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (149552026..149569667, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (149467569..149485210, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene ubiquitination factor E4B, opposite strand 3 Neighboring gene ubiquitination factor E4B Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:148775428-148775611 Neighboring gene STARR-positive B cell enhancer ABC_E8033 Neighboring gene STARR-seq mESC enhancer starr_12112 Neighboring gene STARR-seq mESC enhancer starr_12113 Neighboring gene STARR-seq mESC enhancer starr_12114 Neighboring gene tRNA methyltransferase 11-2, pseudogene 2 Neighboring gene retinol binding protein 7, cellular Neighboring gene STARR-seq mESC enhancer starr_12115 Neighboring gene transmembrame protein 274 Neighboring gene STARR-seq mESC enhancer starr_12116 Neighboring gene leucine zipper and CTNNBIP1 domain containing Neighboring gene STARR-positive B cell enhancer mm9_chr4:148891953-148892254 Neighboring gene catenin beta interacting protein 1 Neighboring gene predicted gene, 24381 Neighboring gene microRNA 5616

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Deletion of Nmnat1 in Skeletal Muscle Leads to the Reduction of NAD(+) Levels but Has No Impact on Skeletal Muscle Morphology and Fiber Types. Karim M, et al. J Nutr Sci Vitaminol (Tokyo), 2023. PMID 37394423
  2. Loss of hepatic Nmnat1 has no impact on diet-induced fatty liver disease. Iqbal T, et al. Biochem Biophys Res Commun, 2022 Dec 25. PMID 36332487
  3. The mouse nicotinamide mononucleotide adenylyltransferase chaperones diverse pathological amyloid client proteins. Huang C, et al. J Biol Chem, 2022 May. PMID 35398355, Free PMC Article
  4. Nuclear NAD(+)-biosynthetic enzyme NMNAT1 facilitates development and early survival of retinal neurons. Sokolov D, et al. Elife, 2021 Dec 8. PMID 34878972, Free PMC Article
  5. Mutant Nmnat1 leads to a retina-specific decrease of NAD+ accompanied by increased poly(ADP-ribose) in a mouse model of NMNAT1-associated retinal degeneration. Greenwald SH, et al. Hum Mol Genet, 2021 May 17. PMID 33709122, Free PMC Article

See all (59) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Nuclear Nicotinamide Adenine Dinucleotide Deficiency by Nmnat1 Deletion Impaired Hepatic Insulin Signaling, Mitochondrial Function, and Hepatokine Expression in Mice Fed a High-Fat Diet.
    Title: Nuclear Nicotinamide Adenine Dinucleotide Deficiency by Nmnat1 Deletion Impaired Hepatic Insulin Signaling, Mitochondrial Function, and Hepatokine Expression in Mice Fed a High-Fat Diet.
  2. Adipocyte NMNAT1 expression is essential for nuclear NAD[+] biosynthesis but dispensable for regulating thermogenesis and whole-body energy metabolism.
    Title: Adipocyte NMNAT1 expression is essential for nuclear NAD(+) biosynthesis but dispensable for regulating thermogenesis and whole-body energy metabolism.
  3. Deletion of Nmnat1 in Skeletal Muscle Leads to the Reduction of NAD[+] Levels but Has No Impact on Skeletal Muscle Morphology and Fiber Types.
    Title: Deletion of Nmnat1 in Skeletal Muscle Leads to the Reduction of NAD(+) Levels but Has No Impact on Skeletal Muscle Morphology and Fiber Types.
  4. Loss of hepatic Nmnat1 has no impact on diet-induced fatty liver disease.
    Title: Loss of hepatic Nmnat1 has no impact on diet-induced fatty liver disease.
  5. The mouse nicotinamide mononucleotide adenylyltransferase chaperones diverse pathological amyloid client proteins.
    Title: The mouse nicotinamide mononucleotide adenylyltransferase chaperones diverse pathological amyloid client proteins.
  6. Mutant Nmnat1 leads to a retina-specific decrease of NAD+ accompanied by increased poly(ADP-ribose) in a mouse model of NMNAT1-associated retinal degeneration.
    Title: Mutant Nmnat1 leads to a retina-specific decrease of NAD+ accompanied by increased poly(ADP-ribose) in a mouse model of NMNAT1-associated retinal degeneration.
  7. Nuclear NAD(+)-biosynthetic enzyme NMNAT1 facilitates development and early survival of retinal neurons.
    Title: Nuclear NAD(+)-biosynthetic enzyme NMNAT1 facilitates development and early survival of retinal neurons.
  8. An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
    Title: An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
  9. SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration.
    Title: SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration.
  10. The present study found that Nmnat1 is essential for the early development of the retina, particularly for the survival of retinal progenitor cells that are fated to retinal subtypes in the inner nuclear layer.
    Title: Roles of Nmnat1 in the survival of retinal progenitors through the regulation of pro-apoptotic gene expression via histone acetylation.
Submit: New GeneRIF Correction See all GeneRIFs (27)

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (7)  1 citation
  • Chemically induced (ENU) (2)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables nicotinamide-nucleotide adenylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nicotinamide-nucleotide adenylyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables nicotinamide-nucleotide adenylyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables nicotinate-nucleotide adenylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nicotinate-nucleotide adenylyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables nicotinate-nucleotide adenylyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables protein ADP-ribosyltransferase-substrate adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in ATP generation from poly-ADP-D-ribose ISO
Inferred from Sequence Orthology
more info
  
involved_in NAD biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within NAD biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in NAD biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of apoptotic DNA fragmentation ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of neuron apoptotic process ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of MAPK cascade ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within response to wounding IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear body ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

Go to the top of the page Help
Preferred Names
nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1
Names
NMN adenylyltransferase 1
NMN/NaMN adenylyltransferase 1
naMN adenylyltransferase 1
nicotinamide mononucleotide adenylyl transferase
nicotinamide mononucleotide adenylyltransferase 1
nicotinamide/nicotinate mononucleotide adenylyltransferase 1
nicotinate-nucleotide adenylyltransferase 1
NP_001343286.1
NP_597679.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001356357.1 → NP_001343286.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AK012194, AL606973, BY250040, BY516711
    Consensus CDS
    CCDS18960.1
    UniProtKB/Swiss-Prot
    Q6B504, Q9EPA7
    UniProtKB/TrEMBL
    Q3V449, Q3V455
    Related
    ENSMUSP00000101318.2, ENSMUST00000105693.2
    Conserved Domains (1) summary
    cd09286
    Location:9 → 255
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic

  2. NM_133435.2 → NP_597679.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1

    See identical proteins and their annotated locations for NP_597679.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcripts. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK011137, AK012194, AK152407, AL606973, BY516711
    Consensus CDS
    CCDS18960.1
    UniProtKB/Swiss-Prot
    Q6B504, Q9EPA7
    UniProtKB/TrEMBL
    Q3V449, Q3V455
    Related
    ENSMUSP00000030845.7, ENSMUST00000030845.13
    Conserved Domains (1) summary
    cd09286
    Location:9 → 255
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    149552026..149569667 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9EPA7.2 GenPept UniProtKB/Swiss-Prot:Q9EPA7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous