LOCUS       NM_145829               2122 bp    mRNA    linear   ROD 06-AUG-2023
DEFINITION  Mus musculus N-acetylglutamate synthase (Nags), mRNA; nuclear gene
            for mitochondrial product.
ACCESSION   NM_145829
VERSION     NM_145829.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2122)
  AUTHORS   Sonaimuthu P, Senkevitch E, Haskins N, Uapinyoying P, McNutt M,
            Morizono H, Tuchman M and Caldovic L.
  TITLE     Gene delivery corrects N-acetylglutamate synthase deficiency and
            enables insights in the physiological impact of L-arginine
            activation of N-acetylglutamate synthase
  JOURNAL   Sci Rep 11 (1), 3580 (2021)
   PUBMED   33574402
  REMARK    GeneRIF: Gene delivery corrects N-acetylglutamate synthase
            deficiency and enables insights in the physiological impact of
            L-arginine activation of N-acetylglutamate synthase.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2122)
  AUTHORS   Dercksen M, Duran M, IJlst L, Kulik W, Ruiter JP, van Cruchten A,
            Tuchman M and Wanders RJ.
  TITLE     A novel UPLC-MS/MS based method to determine the activity of
            N-acetylglutamate synthase in liver tissue
  JOURNAL   Mol Genet Metab 119 (4), 307-310 (2016)
   PUBMED   27771289
  REMARK    GeneRIF: 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.
REFERENCE   3  (bases 1 to 2122)
  AUTHORS   Senkevitch E, Cabrera-Luque J, Morizono H, Caldovic L and Tuchman
            M.
  TITLE     A novel biochemically salvageable animal model of hyperammonemia
            devoid of N-acetylglutamate synthase
  JOURNAL   Mol Genet Metab 106 (2), 160-168 (2012)
   PUBMED   22503289
REFERENCE   4  (bases 1 to 2122)
  AUTHORS   Heibel SK, Lopez GY, Panglao M, Sodha S, Marino-Ramirez L, Tuchman
            M and Caldovic L.
  TITLE     Transcriptional regulation of N-acetylglutamate synthase
  JOURNAL   PLoS One 7 (2), e29527 (2012)
   PUBMED   22383952
  REMARK    GeneRIF: Sp1, CREB, HNF-1, and NF-Y, known to be responsive to
            hormones and diet, regulate NAGS transcription
REFERENCE   5  (bases 1 to 2122)
  AUTHORS   Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M and Tuchman M.
  TITLE     N-acetylglutamate synthase: structure, function and defects
  JOURNAL   Mol Genet Metab 100 Suppl 1 (Suppl 1), S13-S19 (2010)
   PUBMED   20303810
  REMARK    Review article
REFERENCE   6  (bases 1 to 2122)
  AUTHORS   Morizono H, Caldovic L, Shi D and Tuchman M.
  TITLE     Mammalian N-acetylglutamate synthase
  JOURNAL   Mol Genet Metab 81 Suppl 1 (Suppl 1), S4-S11 (2004)
   PUBMED   15050968
  REMARK    GeneRIF: Is a mitochondrial enzyme that catalyzes the formation of
            N-acetylglutamate (NAG)
            Review article
REFERENCE   7  (bases 1 to 2122)
  AUTHORS   Caldovic L, Morizono H, Yu X, Thompson M, Shi D, Gallegos R,
            Allewell NM, Malamy MH and Tuchman M.
  TITLE     Identification, cloning and expression of the mouse
            N-acetylglutamate synthase gene
  JOURNAL   Biochem J 364 (Pt 3), 825-831 (2002)
   PUBMED   12049647
  REMARK    GeneRIF: identification, cloning and expression
REFERENCE   8  (bases 1 to 2122)
  AUTHORS   Kawamoto,S. and Tatibana,M.
  TITLE     Arginine activation of N-acetylglutamate synthetase in mouse liver.
            Enhancement of the sensitivity in vivo by parenteral treatment with
            inhibitors of nucleic acid and protein synthesis
  JOURNAL   FEBS Lett 151 (1), 117-121 (1983)
   PUBMED   6825836
REFERENCE   9  (bases 1 to 2122)
  AUTHORS   Kawamoto,S., Ishida,H., Mori,M. and Tatibana,M.
  TITLE     Regulation of N-acetylglutamate synthetase in mouse liver.
            Postprandial changes in sensitivity to activation by arginine
  JOURNAL   Eur J Biochem 123 (3), 637-641 (1982)
   PUBMED   7075606
REFERENCE   10 (bases 1 to 2122)
  AUTHORS   Tatibana,M., Kawamoto,S., Sonoda,T. and Mori,M.
  TITLE     Enzyme regulation of n-acetylglutamate synthesis in mouse and rat
            liver
  JOURNAL   Adv Exp Med Biol 153, 207-216 (1982)
   PUBMED   7164898
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL591145.25, AK075765.1 and AI415708.1.
            
            On Oct 6, 2012 this sequence version replaced NM_145829.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC057990.1, AF462069.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 15050968; reported by
                                                  MitoCarta
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-479               AL591145.25        192009-192487
            480-2061            AK075765.1         126-1707
            2062-2122           AI415708.1         1-61                c
FEATURES             Location/Qualifiers
     source          1..2122
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 65.48 cM"
     gene            1..2122
                     /gene="Nags"
                     /gene_synonym="1700120E20Rik; argA"
                     /note="N-acetylglutamate synthase"
                     /db_xref="GeneID:217214"
                     /db_xref="MGI:MGI:2387600"
     exon            1..479
                     /gene="Nags"
                     /gene_synonym="1700120E20Rik; argA"
                     /inference="alignment:Splign:2.1.0"
     CDS             75..1658
                     /gene="Nags"
                     /gene_synonym="1700120E20Rik; argA"
                     /EC_number="2.3.1.1"
                     /note="amino-acid N-acetyltransferase; N-acetylglutamate
                     synthase, mitochondrial; amino-acid acetyltransferase"
                     /codon_start=1
                     /product="N-acetylglutamate synthase, mitochondrial
                     precursor"
                     /protein_id="NP_665828.1"
                     /db_xref="CCDS:CCDS25488.1"
                     /db_xref="GeneID:217214"
                     /db_xref="MGI:MGI:2387600"
                     /translation="MATAWVATALRSAAAARRLRSPGGPGGSRRLSGSARRRGAKSAS
                     PGRRLSTARAHAEDAEGAKGRVQSPAVEEPSWTPLPTPLESPAPPAGRSLVQRDIQAF
                     LNQCGASPGEARHWLTQFQTCYHSVDKPFAVMEVDEEVIRCPQAVSRLAFALAFLQRM
                     DMKPLVVLGLPTPTAPSGCLSFWEAKAQLAQSCKVLVDELRHNAATAVPFFGGGSVLS
                     AAEPAPHASYGGIVAVETDLLQWCLESNSIPILCPIGETAARRSVLLDSLEVTASLAK
                     ALQPTKIIFLNNSGGLRNNSQKILSNVNLPADLDLVTNAEWLSIKERQQIRLIVDVLS
                     RLPHYSSAVITAASTLLTELFSNKGCGTLFKNAERMLRVRNLDSLDQGRLVNLVNASF
                     GKKLREDYLESLRPRLHSIYVSEGYNAAAILTVEPVLGGTPYLDKFVVSSSRQGQGSG
                     QMLWECLRRDLQTLFWRSRVTNPINPWYFKHSDGSFSNKQWIFFWFGLADIRDSYELV
                     NHAKGLPDSFCKPASDPGS"
     exon            480..754
                     /gene="Nags"
                     /gene_synonym="1700120E20Rik; argA"
                     /inference="alignment:Splign:2.1.0"
     exon            755..968
                     /gene="Nags"
                     /gene_synonym="1700120E20Rik; argA"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1149
                     /gene="Nags"
                     /gene_synonym="1700120E20Rik; argA"
                     /inference="alignment:Splign:2.1.0"
     exon            1150..1321
                     /gene="Nags"
                     /gene_synonym="1700120E20Rik; argA"
                     /inference="alignment:Splign:2.1.0"
     exon            1322..1504
                     /gene="Nags"
                     /gene_synonym="1700120E20Rik; argA"
                     /inference="alignment:Splign:2.1.0"
     exon            1505..2115
                     /gene="Nags"
                     /gene_synonym="1700120E20Rik; argA"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gaacccctag tgctgtgcgc tccagagcga ccgtcacctg tgggtggggg ggacgagtgg
       61 gtttggttgt cgtcatggcg acggcgtggg tggccacagc cctgcggtct gctgcagcgg
      121 ccagaaggtt gcgcagcccg ggaggtcctg ggggctcacg gagactgagt ggcagcgcgc
      181 ggcggcgcgg ggcaaagagc gccagcccgg gacgccggct cagcaccgcc agggctcacg
      241 cagaggacgc cgagggcgct aagggtcgtg tccagtctcc tgcggtcgag gagccgtcgt
      301 ggacaccgct tccaacgccc ctcgaatccc ctgcgcctcc cgccggcaga tcactggtgc
      361 agcgggacat ccaggccttc ctgaaccagt gtggtgccag cccgggggaa gcacgccact
      421 ggctcacgca attccagacc tgctaccatt cggtggacaa gcccttcgcc gtcatggagg
      481 tcgatgagga ggtgatccgg tgcccgcagg cggtatcccg cctggctttc gccctggcct
      541 tcttgcaacg catggacatg aagccactgg tggttctggg gctgcctacc cccacggcac
      601 cttctggctg tctttccttc tgggaagcta aggcgcagct tgctcagagc tgcaaggtgc
      661 tggtggatga actaaggcac aacgcggcta ctgctgtgcc cttttttggc ggcggatcag
      721 tactgagcgc tgcggagcca gctccccatg ccagctacgg tggcatcgtc gcggtggaga
      781 cagacctgtt gcagtggtgt ctggaatcca acagcatccc catcctgtgc cccattgggg
      841 aaacggctgc gcgccgttcc gtgctccttg actcgctgga ggtgactgca tctctagcca
      901 aggctttgca gcccaccaaa atcatcttcc tcaataattc aggcggcctg cggaataaca
      961 gtcagaagat cctgagcaac gtgaacctgc ccgctgacct tgaccttgtt accaacgctg
     1021 agtggctgag catcaaagag cggcagcaga ttcggctcat cgtggacgtg ctgagccgcc
     1081 tgccgcacta ctcctccgca gtcattacag ccgctagcac gctgctcacg gaactcttta
     1141 gtaacaaggg ctgtggcacc ctgtttaaaa atgctgagcg gatgctgcga gtgcgcaacc
     1201 tggacagcct ggaccagggc cgcctagtga acctagtcaa cgccagcttc ggcaagaagc
     1261 tccgagaaga ctatctggag tcactgcgcc ctcggttgca ctcgatctat gtctctgagg
     1321 ggtacaacgc ggcagccatt ctgacagtgg aacctgtact agggggcacc ccatatctgg
     1381 acaaatttgt ggtgagctcc agccgccagg gccaaggttc tggacagatg ctgtgggaat
     1441 gccttcggag agacctgcaa acgttgttct ggcgctcaag ggtcaccaat cccatcaatc
     1501 cctggtactt caagcacagt gacggtagct tctccaacaa gcagtggatc ttcttctggt
     1561 tcggcctggc cgacatccga gactcctacg aactagtcaa tcatgccaag gggctgccgg
     1621 actctttctg caaaccagct tctgacccag gcagctgacc caccatcgcg ggccctgtaa
     1681 accctgggac agccaggatg gaccaaaagc catgcctgct gggggtgacc ccaggcagct
     1741 gaggggaaga agctgcagca gcatagcagc atcgtctgct caggggcccc ggagcagaac
     1801 aaacacggaa gtgaagccag ctaaggactc ggctccaaag tcaaaccaga cggccttcaa
     1861 tgtccagcct gggaaacggg gctgggattg ccttcagagc tctacctaag gtaaccttaa
     1921 gggcaggcca gtttccatgg cctctgggct gtcttgaggc tccattgtct tacatagcat
     1981 ctaagcctgc ctggtctgcc actcatttgg gtctcaaaat tcttcaggag gccttgatta
     2041 aaccgcaaat gcttgtctga gtcacacttg tctcaaaaac catctaagaa aagtttaatt
     2101 acagcaagga cttcaaaaaa aa
//
