LOCUS       NM_153006               2114 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens N-acetylglutamate synthase (NAGS), mRNA; nuclear gene
            for mitochondrial product.
ACCESSION   NM_153006
VERSION     NM_153006.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2114)
  AUTHORS   Owusu-Ansah,M., Guptan,N., Alindogan,D., Morizono,M. and
            Caldovic,L.
  TITLE     NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and
            Pyrimidines Metabolism in Tumor Cells
  JOURNAL   Int J Mol Sci 24 (7), 6754 (2023)
   PUBMED   37047726
  REMARK    GeneRIF: NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of
            Arginine and Pyrimidines Metabolism in Tumor Cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2114)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   3  (bases 1 to 2114)
  AUTHORS   Haberle,J., Moore,M.B., Haskins,N., Rufenacht,V., Rokicki,D.,
            Rubio-Gozalbo,E., Tuchman,M., Longo,N., Yandell,M., Andrews,A.,
            AhMew,N. and Caldovic,L.
  TITLE     Noncoding sequence variants define a novel regulatory element in
            the first intron of the N-acetylglutamate synthase gene
  JOURNAL   Hum Mutat 42 (12), 1624-1636 (2021)
   PUBMED   34510628
  REMARK    GeneRIF: Noncoding sequence variants define a novel regulatory
            element in the first intron of the N-acetylglutamate synthase gene.
REFERENCE   4  (bases 1 to 2114)
  AUTHORS   Williams,M., Burlina,A., Rubert,L., Polo,G., Ruijter,G.J.G., van
            den Born,M., Rufenacht,V., Haskins,N., van Zutven,L.J.C.M.,
            Tuchman,M., Saris,J.J., Haberle,J. and Caldovic,L.
  TITLE     N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence
            Variant in the N-acetylglutamate Synthase Enhancer Region
  JOURNAL   Sci Rep 8 (1), 15436 (2018)
   PUBMED   30337552
  REMARK    GeneRIF: Variation in the N-acetylglutamate Synthase Enhancer
            Region is associated with N-Acetylglutamate Synthase Deficiency.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2114)
  AUTHORS   Dercksen,M., Duran,M., IJlst,L., Kulik,W., Ruiter,J.P., van
            Cruchten,A., Tuchman,M. and Wanders,R.J.
  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   6  (bases 1 to 2114)
  AUTHORS   Caldovic,L., Morizono,H., Gracia Panglao,M., Gallegos,R., Yu,X.,
            Shi,D., Malamy,M.H., Allewell,N.M. and Tuchman,M.
  TITLE     Cloning and expression of the human N-acetylglutamate synthase gene
  JOURNAL   Biochem Biophys Res Commun 299 (4), 581-586 (2002)
   PUBMED   12459178
  REMARK    GeneRIF: identification and cloning of the human NAGS gene,
            determination of its genomic structure, verification of the
            catalytic activity of the purified recombinant enzyme, and the
            distribution of NAGS mRNA in human tissues
            GeneRIF: Gene product expressed in E. coli shown to have NAGS
            enzyme activity.  Gene name provisionally was assigned as NAT7.
REFERENCE   7  (bases 1 to 2114)
  AUTHORS   Elpeleg,O., Shaag,A., Ben-Shalom,E., Schmid,T. and Bachmann,C.
  TITLE     N-acetylglutamate synthase deficiency and the treatment of
            hyperammonemic encephalopathy
  JOURNAL   Ann Neurol 52 (6), 845-849 (2002)
   PUBMED   12447942
  REMARK    GeneRIF: The first mutation in NAGS has been reported in a family
            with carbamylglutamate responsive hyperammonemia and normal
            activity of the urea cycle enzymes.
REFERENCE   8  (bases 1 to 2114)
  AUTHORS   Caldovic,L., Morizono,H., Yu,X., Thompson,M., Shi,D., Gallegos,R.,
            Allewell,N.M., Malamy,M.H. 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
REFERENCE   9  (bases 1 to 2114)
  AUTHORS   Ah Mew,N., Simpson,K.L., Gropman,A.L., Lanpher,B.C., Chapman,K.A.
            and Summar,M.L.
  TITLE     Urea Cycle Disorders Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301396
REFERENCE   10 (bases 1 to 2114)
  AUTHORS   Bachmann,C., Krahenbuhl,S. and Colombo,J.P.
  TITLE     Purification and properties of acetyl-CoA:L-glutamate
            N-acetyltransferase from human liver
  JOURNAL   Biochem J 205 (1), 123-127 (1982)
   PUBMED   7126172
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC023855.15, AY116538.1,
            BF589712.1 and AI241153.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_153006.2.
            
            Summary: The N-acetylglutamate synthase gene encodes a
            mitochondrial enzyme that catalyzes the formation of
            N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG
            is a cofactor of carbamyl phosphate synthetase I (CPSI), the first
            enzyme of the urea cycle in mammals. This gene may regulate
            ureagenesis by altering NAG availability and, thereby, CPSI
            activity. Deficiencies in N-acetylglutamate synthase have been
            associated with hyperammonemia. [provided by RefSeq, Jul 2008].
            
            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 :: SRR6380199.94103.17, AK314432.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000293404.8/
                                                  ENSP00000293404.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-42                AC023855.15        130843-130884       c
            43-1647             AY116538.1         1-1605
            1648-2109           BF589712.1         5-466               c
            2110-2114           AI241153.1         15-19               c
FEATURES             Location/Qualifiers
     source          1..2114
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..2114
                     /gene="NAGS"
                     /gene_synonym="AGAS; ARGA"
                     /note="N-acetylglutamate synthase"
                     /db_xref="GeneID:162417"
                     /db_xref="HGNC:HGNC:17996"
                     /db_xref="MIM:608300"
     exon            1..468
                     /gene="NAGS"
                     /gene_synonym="AGAS; ARGA"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..1647
                     /gene="NAGS"
                     /gene_synonym="AGAS; ARGA"
                     /EC_number="2.3.1.1"
                     /note="amino-acid acetyltransferase"
                     /codon_start=1
                     /product="N-acetylglutamate synthase, mitochondrial"
                     /protein_id="NP_694551.1"
                     /db_xref="CCDS:CCDS11473.1"
                     /db_xref="GeneID:162417"
                     /db_xref="HGNC:HGNC:17996"
                     /db_xref="MIM:608300"
                     /translation="MATALMAVVLRAAAVAPRLRGRGGTGGARRLSCGARRRAARGTS
                     PGRRLSTAWSQPQPPPEEYAGADDVSQSPVAEEPSWVPSPRPPVPHESPEPPSGRSLV
                     QRDIQAFLNQCGASPGEARHWLTQFQTCHHSADKPFAVIEVDEEVLKCQQGVSSLAFA
                     LAFLQRMDMKPLVVLGLPAPTAPSGCLSFWEAKAQLAKSCKVLVDALRHNAAAAVPFF
                     GGGSVLRAAEPAPHASYGGIVSVETDLLQWCLESGSIPILCPIGETAARRSVLLDSLE
                     VTASLAKALRPTKIIFLNNTGGLRDSSHKVLSNVNLPADLDLVCNAEWVSTKERQQMR
                     LIVDVLSRLPHHSSAVITAASTLLTELFSNKGSGTLFKNAERMLRVRSLDKLDQGRLV
                     DLVNASFGKKLRDDYLASLRPRLHSIYVSEGYNAAAILTMEPVLGGTPYLDKFVVSSS
                     RQGQGSGQMLWECLRRDLQTLFWRSRVTNPINPWYFKHSDGSFSNKQWIFFWFGLADI
                     RDSYELVNHAKGLPDSFHKPASDPGS"
     exon            469..743
                     /gene="NAGS"
                     /gene_synonym="AGAS; ARGA"
                     /inference="alignment:Splign:2.1.0"
     exon            744..957
                     /gene="NAGS"
                     /gene_synonym="AGAS; ARGA"
                     /inference="alignment:Splign:2.1.0"
     exon            958..1138
                     /gene="NAGS"
                     /gene_synonym="AGAS; ARGA"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..1310
                     /gene="NAGS"
                     /gene_synonym="AGAS; ARGA"
                     /inference="alignment:Splign:2.1.0"
     exon            1311..1493
                     /gene="NAGS"
                     /gene_synonym="AGAS; ARGA"
                     /inference="alignment:Splign:2.1.0"
     exon            1494..2114
                     /gene="NAGS"
                     /gene_synonym="AGAS; ARGA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2012..2017
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAGS"
                     /gene_synonym="AGAS; ARGA"
                     /note="hexamer: AATAAT"
     polyA_site      2040
                     /gene="NAGS"
                     /gene_synonym="AGAS; ARGA"
     regulatory      2089..2094
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAGS"
                     /gene_synonym="AGAS; ARGA"
                     /note="hexamer: ATTAAA"
     polyA_site      2114
                     /gene="NAGS"
                     /gene_synonym="AGAS; ARGA"
                     /note="major polyA site"
ORIGIN      
        1 agacagactg ccactcttgg ggggcaagag ttggttgtcg tcatggcgac ggcgctgatg
       61 gctgtggttc tgcgggcagc tgctgtagcc ccgaggctga gaggccgggg aggcactggg
      121 ggcgcccgaa ggctgagctg tggcgcgcgg cggcgggcgg cgaggggcac cagcccgggg
      181 cgccggctca gcaccgcctg gtcgcagccc cagcccccgc ccgaggagta cgcgggcgcg
      241 gacgacgtct cccagtcgcc cgtcgccgag gagccgtcgt gggtgccgag tcccaggccc
      301 ccggtgcccc acgagtcccc agagcctcct tcgggccgct cgctggtgca gcgggacatc
      361 caggccttcc tgaaccagtg cggggccagc cctggggagg cgcgccactg gctcacgcag
      421 ttccagacct gccatcactc cgcggacaag cccttcgccg tcatcgaggt ggacgaggag
      481 gtgctcaagt gccagcaggg cgtatccagt ctggcctttg ccctggcctt cttgcagcgc
      541 atggacatga agccgctggt ggtcctgggg ctgccggccc ctacggctcc ctcgggctgt
      601 ctttccttct gggaggccaa ggcgcagctg gccaagagct gcaaggtgct ggtagacgcg
      661 cttcgacaca acgccgccgc tgctgtgcca ttttttggcg gcgggtctgt gctacgcgct
      721 gccgagccgg ctccccatgc cagctacggc ggcatcgtct cggtggagac agacctgctg
      781 cagtggtgcc tggagtcggg cagcatcccc atcctgtgcc ccatcgggga gacggccgcg
      841 cgccgctccg tgcttctcga ctccctggag gtgaccgcgt cgctggccaa ggcgctgcgg
      901 cccaccaaaa tcatcttcct caataacaca ggcggcctgc gcgacagcag tcataaggtc
      961 ctgagtaacg tgaacctgcc cgccgacctg gacctggtgt gcaacgccga gtgggtgagc
     1021 acaaaagaac ggcagcagat gcggctcatc gtggacgtgc tcagccgcct gccccaccac
     1081 tcctcggccg tcatcaccgc cgctagcacg ctgctcactg agctctttag caacaagggg
     1141 tccgggaccc tgttcaagaa cgccgagcga atgctacggg tgcgcagcct ggacaagctg
     1201 gaccagggcc gtctagtgga cctggtcaac gccagcttcg gcaagaagct cagggacgac
     1261 tacctggcct cgctgcgccc gcggctgcac tccatctacg tctccgaggg gtacaacgcc
     1321 gccgccattc tgaccatgga gcccgtcctg gggggcaccc cgtacctgga caaatttgtg
     1381 gtgagctcca gccgccaggg ccaaggctcc ggccagatgc tgtgggagtg cctgcggcgg
     1441 gaccttcaga cacttttctg gcgctcccgg gtcaccaacc ccatcaatcc ctggtacttc
     1501 aaacacagtg atggcagctt ctccaacaag cagtggatct tcttctggtt tggcctggct
     1561 gatatccggg actcctatga gttggtcaac cacgccaagg gactgccaga ctcctttcac
     1621 aagccagctt ctgacccagg cagctgaccc tcaccatgga cactacaggc cctggaatgg
     1681 ccagggtgga ccaaaagcca tgccagctgg gcatgacccc aggcagccag ccacaggctg
     1741 aagggggctt gttggctgag tgatctgcag aggagaaagc agccccagct ctgcccagag
     1801 gaggcgctga agtgggacaa gcacaggaaa gaaggggacc agtctaggac cccaactcga
     1861 ctcactctaa agctacaacc aaatggcctt cgattttcaa cctggggatt aggggagggg
     1921 agggtgcctt ccagggctct actcaggact aaccctaagg gtgagctagt ttctgtgcct
     1981 ctgtgctatg ttttgaggct cccttaccca aaataatacc cctgcctgcg tgatattcta
     2041 ccattcattt taattccttt gggtcttgca gtttttcagg aggccttgat taaaatgcaa
     2101 atacttgtct gaga
//
