Nags MGI Mouse Gene Detail - MGI:2387600 - N-acetylglutamate synthase

Symbol

Nags
Name

N-acetylglutamate synthase
Synonyms

1700120E20Rik

Feature Type

protein coding gene
IDs

MGI:2387600
NCBI Gene: 217214
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr11:102036339-102040303 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 65.48 cM
Mapping Data

3 experiments

SNPs within 2kb

166 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2387600	protein coding gene	Chr11:102036339-102040354 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019222	protein coding gene	Chr11:105096118-105100066 (+)
A/J	MGP_AJ_G0019190	protein coding gene	Chr11:100657832-100661800 (+)
AKR/J	MGP_AKRJ_G0019159	protein coding gene	Chr11:103776601-103780549 (+)
BALB/cJ	MGP_BALBcJ_G0019164	protein coding gene	Chr11:101143083-101147036 (+)
C3H/HeJ	MGP_C3HHeJ_G0018973	protein coding gene	Chr11:103979681-103983629 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019613	protein coding gene	Chr11:108368361-108372321 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017239	protein coding gene	Chr11:98082794-98086740 (+)
CAST/EiJ	MGP_CASTEiJ_G0018527	protein coding gene	Chr11:104950284-104954244 (+)
CBA/J	MGP_CBAJ_G0018942	protein coding gene	Chr11:112841043-112845050 (+)
DBA/2J	MGP_DBA2J_G0019054	protein coding gene	Chr11:100182612-100186560 (+)
FVB/NJ	MGP_FVBNJ_G0019044	protein coding gene	Chr11:99711690-99715654 (+)
LP/J	MGP_LPJ_G0019123	protein coding gene	Chr11:105615226-105620594 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019075	protein coding gene	Chr11:112365857-112369804 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019651	protein coding gene	Chr11:104137642-104141589 (+)
PWK/PhJ	MGP_PWKPhJ_G0018290	protein coding gene	Chr11:101242959-101246918 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018082	protein coding gene	Chr11:103891955-103898982 (+)
WSB/EiJ	MGP_WSBEiJ_G0018576	protein coding gene	Chr11:104129859-104133822 (+)

Human Ortholog

NAGS, N-acetylglutamate synthase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NAGS, N-acetylglutamate synthase
Synonyms

AGAS, ARGA
Links

HGNC:17996

NCBI Gene ID: 162417

neXtProt AC: NX_Q8N159

UniProt: Q8N159
Chr Location

17q21.31; chr17:44004622-44009068 (+) GRCh38

MGI Vertebrate Homology

Nags stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NAGS
Protein SuperFamily

NAGS_animal
Gene Tree

Nags

Diseases

2 with human NAGS associations

				Human Disease	Mouse Models
				amino acid metabolic disorder IDs amino acid metabolic disorder DOID:9252 ICD10CM:E72.9 ICD9CM:270 ICD9CM:270.9 MESH:D000592 NCI:C97090 UMLS_CUI:C0002514
				N-acetylglutamate synthase deficiency IDs N-acetylglutamate synthase deficiency DOID:0112258 OMIM:237310 ORDO:927

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

9 phenotypes from 1 allele in 2 genetic backgrounds
12 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

7
Endonuclease-mediated

3
Targeted

4
Genomic Mutations

1 involving Nags
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

27 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

In the absence of N-carbamyl-L-glutamate and L-citrulline supplementation homozygous null mice develop severe hyperammonemia and die.

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All GO Annotations

13
GO References

7

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

800
Tissues

94
cDNA Data

16
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase nags

ZFIN nags

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All Sequences

33
RefSeq

2
UniProt

1
CCDS

CCDS25488.1

Ensembl

ENSMUSG00000048217 (Evidence)
NCBI Gene

217214

			Length	Strain/Species	Flank
genomic	ENSMUSG00000048217	Ensembl Gene Model \| MGI Sequence Detail	3965	C57BL/6J	± kb
transcript	ENSMUST00000055409	Ensembl \| MGI Sequence Detail	2028	Not Applicable
polypeptide	ENSMUSP00000050258	Ensembl \| MGI Sequence Detail	527	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000010964 N-acetylglutamate synthase, mitochondrial

(term hierarchy)
EC

2.3.1.1
InterPro Domains

IPR036393 Acetylglutamate kinase-like superfamily

IPR016181 Acyl-CoA N-acyltransferase

IPR000182 GNAT domain

IPR011243 N-acetylglutamate synthase, animal

IPR006855 Vertebrate-like NAGS Gcn5-related N-acetyltransferase (GNAT) domain

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All nucleic 16

cDNA 16

Microarray probesets 2

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MGI:1920851, MGI:2144153

Summaries

All 43

Developmental Gene Expression 1

Gene Ontology 7

Phenotypes 12
Earliest

J:56548 Zheng B, et al., Engineering a mouse balancer chromosome. Nat Genet. 1999 Aug;22(4):375-8
Latest

J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Nags:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr105186	Chr11:102036293-102036296 (+)	-44 bp
Tssr105187	Chr11:102036299-102036327 (+)	-26 bp
Tssr105188	Chr11:102036356-102036367 (+)	23 bp
Tssr105189	Chr11:102037165-102037209 (+)	848 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24