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

Gene ID: 66454, updated on 12-May-2024

Summary

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
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Genomic context

See Nmnat1 in Genome Data Viewer
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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

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

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)

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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_001356357.1NP_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:9255
    NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
  2. NM_133435.2NP_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:9255
    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)