Nags N-acetylglutamate synthase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nagsprovided by MGI
Official Full Name: N-acetylglutamate synthaseprovided by MGI
Primary source: MGI:MGI:2387600
See related: Ensembl:ENSMUSG00000048217 AllianceGenome:MGI:2387600
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: argA; 1700120E20Rik
Summary: Enables L-glutamate N-acetyltransferase activity. Acts upstream of or within glutamate metabolic process. Located in mitochondrion. Human ortholog(s) of this gene implicated in N-acetylglutamate synthase deficiency and amino acid metabolic disorder. Orthologous to human NAGS (N-acetylglutamate synthase). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in liver adult (RPKM 57.5), duodenum adult (RPKM 38.0) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 65.48 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (102036339..102040354)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (102145513..102149528)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase.
Title: Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase.
The specificity of the assay was validated by demonstrating a complete deficiency of NAGS in liver homogenates from Nags -/- mice. CONCLUSION: The novel NAGS enzyme assay reported herein can be used for the diagnosis of inherited NAGS deficiency and may also be of value in the study of secondary hyperammonemia present in various inborn errors of metabolism as well as drug treatment.
Title: A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue.
Sp1, CREB, HNF-1, and NF-Y, known to be responsive to hormones and diet, regulate NAGS transcription
Title: Transcriptional regulation of N-acetylglutamate synthase.
The biochemical properties of purified recombinant human and mouse NAGS-M and NAGS-C were determined in this study with the goal of better understanding the role of the variable domain in NAGS function.
Title: Biochemical properties of recombinant human and mouse N-acetylglutamate synthase.
Is a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG)
Title: Mammalian N-acetylglutamate synthase.
identification, cloning and expression
Title: Identification, cloning and expression of the mouse N-acetylglutamate synthase gene.

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Variation

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Alleles

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

Endonuclease-mediated (3)
Targeted (1)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables L-glutamate N-acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-glutamate N-acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables L-glutamate N-acetyltransferase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in L-arginine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-arginine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in glutamate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within glutamate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in urea cycle	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: N-acetylglutamate synthase, mitochondrial

Names: amino-acid N-acetyltransferase; amino-acid acetyltransferase

NP_665828.1

EC 2.3.1.1

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)

NM_145829.2 → NP_665828.1 N-acetylglutamate synthase, mitochondrial precursor

See identical proteins and their annotated locations for NP_665828.1

Status: VALIDATED

Source sequence(s)

AI415708, AK075765, AL591145

Consensus CDS

CCDS25488.1

UniProtKB/Swiss-Prot

B1AQG2, Q8C6G6, Q8CI77, Q8K1R8, Q8R4H7

Related

ENSMUSP00000050258.6, ENSMUST00000055409.6

Conserved Domains (3) summary

PRK04531
Location:108 → 518

PRK04531; acetylglutamate kinase; Provisional

pfam04768
Location:350 → 513

NAT; NAT, N-acetyltransferase, of N-acetylglutamate synthase

cl00452
Location:95 → 364

AAK; Amino Acid Kinases (AAK) superfamily, catalytic domain; present in such enzymes like N-acetylglutamate kinase (NAGK), carbamate kinase (CK), aspartokinase (AK), glutamate-5-kinase (G5K) and UMP kinase (UMPK). The AAK superfamily includes kinases that ...

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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

102036339..102040354

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_178053.4: Suppressed sequence

Description

NM_178053.4: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.