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

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: human all
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Genomic context

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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
The mouse nicotinamide mononucleotide adenylyltransferase chaperones diverse pathological amyloid client proteins.
Title: The mouse nicotinamide mononucleotide adenylyltransferase chaperones diverse pathological amyloid client proteins.
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.
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.
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.
SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration.
Title: SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration.
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

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

BB462734 (e-PCR)
- UniSTS:207725

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

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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

EC 2.7.7.1

EC 2.7.7.18

NP_597679.1

EC 2.7.7.1

EC 2.7.7.18

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)

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
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