Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nat2provided by MGI
Official Full Name: N-acetyltransferase 2 (arylamine N-acetyltransferase)provided by MGI
Primary source: MGI:MGI:109201
See related: Ensembl:ENSMUSG00000051147 AllianceGenome:MGI:109201
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
Summary: Enables arylamine N-acetyltransferase activity. Predicted to be located in cytosol. Is expressed in several structures, including adrenal gland; female reproductive system; respiratory system; spleen; and sympathetic ganglion. Human ortholog(s) of this gene implicated in several diseases, including autoimmune disease (multiple); carcinoma (multiple); contact dermatitis (multiple); leukemia (multiple); and lung disease (multiple). Orthologous to several human genes including NAT1 (N-acetyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]
Annotation information: Note: Loci in other organisms that are functionally homologous to this one are validly referred to as both NAT1 and NAT2; i.e., the functional homologs of NAT1 include mouse and rat Nat2, while the functional homologs of human NAT2 include mouse and rat Nat1. Name:sequence associations are consistent with current use in the field. [13 Feb 2013]
Expression: Broad expression in liver E14 (RPKM 1.2), liver E14.5 (RPKM 0.9) and 24 other tissues See more
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Genomic context

Location:: 8 B3.2; 8 33.38 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (67947527..67955296)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (67494875..67502644)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

metabolic efficiency in arylamine N-acetyltransferase-deficient mice
Title: A readout of metabolic efficiency in arylamine N-acetyltransferase-deficient mice reveals minor energy metabolism changes.
miR-217 inhibits proliferation adn promotes apoptosis and autophagy in hepatocytes in CCL4-induced liver injury through targeting NAT2 expression.
Title: Effects of microRNA-217 on proliferation, apoptosis, and autophagy of hepatocytes in rat models of CCL4-induced liver injury by targeting NAT2.
This study illustrated that deficiency of NAT1/2 decreases isoniazid (INH) acetylation, but increases the interactions of INH with endobiotics in the liver.
Title: Deficiency of N-acetyltransferase increases the interactions of isoniazid with endobiotics in mouse liver.
It was concluded that an acute colonic inflammation impairs the expression and function of NAT2 enzyme, thereby diminishing the capacity for 5-aminosalisylic acid metabolism by colonic mucosa.
Title: Acute murine colitis reduces colonic 5-aminosalicylic acid metabolism by regulation of N-acetyltransferase-2.
Hyperhomocysteinemia-induced decrease of peroxynitrite level is associated with an increase of hepatic Nat2 isoform activity with a reversal effect of wine polyphenol extract supplementation.
Title: Effect of red wine polyphenol dietary supplementation on two phase II enzymes in liver of hyperhomocysteinemic mice.
Mouse NAT2 is likely to influence epigenetic gene control, particularly of its own locus, and this is consistent with recent evidence associating aberrant mouse Nat2/human NAT1 gene expression with certain developmental malformations and cancers.
Title: Characterisation of CpG methylation in the upstream control region of mouse Nat2: evidence for a gene-environment interaction in a polymorphic gene implicated in folate metabolism.
study reports the detailed expression of the Nat2 gene and encoded protein in mouse embryos
Title: Mouse arylamine N-acetyltransferase 2 (Nat2) expression during embryogenesis: a potential marker for the developing neuroendocrine system.
Mouse N-acetyltransferase-2 was produced as a recombinant protein and found to have a substrate specificity profile similar to human N-acetyltransferase type 1.
Title: Mouse N-acetyltransferase type 2, the homologue of human N-acetyltransferase type 1.
These ocular phenotypes and their association with Nat2 genotype indicate that the Nat2 locus may be responsible for the previously described microphthalmic Cat4 phenotype.
Title: Ocular defects associated with a null mutation in the mouse arylamine N-acetyltransferase 2 gene.
expression and down-regulation of this enzyme complex plays an important role in the generation and differentiation of neurons
Title: An evolutionarily conserved N-terminal acetyltransferase complex associated with neuronal development.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1) 1 citation

General gene information

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Markers

U35886 (e-PCR)
- UniSTS:159767

D8Mit71 (e-PCR), detects polymorphism
- UniSTS:131617

Nat2 (e-PCR), detects polymorphism
- UniSTS:256627

NoName (e-PCR)
- UniSTS:224642

AV377607 (e-PCR)
- UniSTS:185757

D8Srb1 (e-PCR), detects polymorphism
- UniSTS:239023

D8Srb2 (e-PCR), detects polymorphism
- UniSTS:239024

D8Srb3 (e-PCR), detects polymorphism
- UniSTS:239025

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N-acetyltransferase activity	ISO Inferred from Sequence Orthology more info
enables acetyltransferase activity	IEA Inferred from Electronic Annotation more info
enables acyltransferase activity	IEA Inferred from Electronic Annotation more info
enables arylamine N-acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables arylamine N-acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables arylamine N-acetyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables arylamine N-acetyltransferase activity	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: arylamine N-acetyltransferase 2

Names: N-acetyl transferase 2; N-acetyltransferase type 2; NAT-2; arylamide acetylase 2

NP_001162049.1

EC 2.3.1.5

NP_035004.1

EC 2.3.1.5

XP_006509655.1

EC 2.3.1.5

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_001168577.1 → NP_001162049.1 arylamine N-acetyltransferase 2

See identical proteins and their annotated locations for NP_001162049.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AC122867, AK007583

Consensus CDS

CCDS22338.1

UniProtKB/Swiss-Prot

P50295

UniProtKB/TrEMBL

Q711M4, Q78ZC4, Q921E5

Related

ENSMUSP00000091181.6, ENSMUST00000093470.7

Conserved Domains (1) summary

pfam00797
Location:20 → 280

Acetyltransf_2; N-acetyltransferase
NM_010874.3 → NP_035004.1 arylamine N-acetyltransferase 2

See identical proteins and their annotated locations for NP_035004.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AC122867, AK007583

Consensus CDS

CCDS22338.1

UniProtKB/Swiss-Prot

P50295

UniProtKB/TrEMBL

Q711M4, Q78ZC4, Q921E5

Related

ENSMUSP00000130065.2, ENSMUST00000163856.3

Conserved Domains (1) summary

pfam00797
Location:20 → 280

Acetyltransf_2; N-acetyltransferase