LOCUS       NM_134148               3966 bp    mRNA    linear   ROD 14-OCT-2024
DEFINITION  Mus musculus carnosine synthase 1 (Carns1), transcript variant 1,
            mRNA.
ACCESSION   NM_134148 XM_902445 XM_919865
VERSION     NM_134148.3
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 3966)
  AUTHORS   Sakano,T., Egusa,A.S., Kawauchi,Y., Wu,J., Nishimura,T., Nakao,N.,
            Kuramoto,A., Kawashima,T., Shiotani,S., Okada,Y., Sato,K. and
            Yanai,N.
  TITLE     Pharmacokinetics and tissue distribution of orally administrated
            imidazole dipeptides in carnosine synthase gene knockout mice
  JOURNAL   Biosci Biotechnol Biochem 86 (9), 1276-1285 (2022)
   PUBMED   35641020
REFERENCE   2  (bases 1 to 3966)
  AUTHORS   Wu,J., Egusa,A. and Nishimura,T.
  TITLE     Carnosine synthase deficiency in mice affects protein metabolism in
            skeletal muscle
  JOURNAL   Biochem Biophys Res Commun 612, 22-29 (2022)
   PUBMED   35500438
REFERENCE   3  (bases 1 to 3966)
  AUTHORS   Wang-Eckhardt,L., Bastian,A., Bruegmann,T., Sasse,P. and
            Eckhardt,M.
  TITLE     Carnosine synthase deficiency is compatible with normal skeletal
            muscle and olfactory function but causes reduced olfactory
            sensitivity in aging mice
  JOURNAL   J Biol Chem 295 (50), 17100-17113 (2020)
   PUBMED   33040025
  REMARK    GeneRIF: Carnosine synthase deficiency is compatible with normal
            skeletal muscle and olfactory function but causes reduced olfactory
            sensitivity in aging mice.
REFERENCE   4  (bases 1 to 3966)
  AUTHORS   Veiga-da-Cunha,M., Chevalier,N., Stroobant,V., Vertommen,D. and Van
            Schaftingen,E.
  TITLE     Metabolite proofreading in carnosine and homocarnosine synthesis:
            molecular identification of PM20D2 as beta-alanyl-lysine
            dipeptidase
  JOURNAL   J Biol Chem 289 (28), 19726-19736 (2014)
   PUBMED   24891507
REFERENCE   5  (bases 1 to 3966)
  AUTHORS   Drozak,J., Veiga-da-Cunha,M., Vertommen,D., Stroobant,V. and Van
            Schaftingen,E.
  TITLE     Molecular identification of carnosine synthase as ATP-grasp
            domain-containing protein 1 (ATPGD1)
  JOURNAL   J Biol Chem 285 (13), 9346-9356 (2010)
   PUBMED   20097752
  REMARK    GeneRIF: carnosine synthase is identified as ATP-grasp
            domain-containing protein 1
REFERENCE   6  (bases 1 to 3966)
  AUTHORS   Okazaki,N., Kikuno,R., Ohara,R., Inamoto,S., Koseki,H., Hiraoka,S.,
            Saga,Y., Nagase,T., Ohara,O. and Koga,H.
  TITLE     Prediction of the coding sequences of mouse homologues of KIAA
            gene: III. the complete nucleotide sequences of 500 mouse
            KIAA-homologous cDNAs identified by screening of terminal sequences
            of cDNA clones randomly sampled from size-fractionated libraries
  JOURNAL   DNA Res 10 (4), 167-180 (2003)
   PUBMED   14621295
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC109138.10.
            
            On Apr 7, 2022 this sequence version replaced NM_134148.2.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMN00849374
                              [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-84                AC109138.10        183812-183895       c
            85-111              AC109138.10        183423-183449       c
            112-373             AC109138.10        181377-181638       c
            374-463             AC109138.10        180564-180653       c
            464-951             AC109138.10        179830-180317       c
            952-1126            AC109138.10        179414-179588       c
            1127-1212           AC109138.10        179244-179329       c
            1213-1444           AC109138.10        178317-178548       c
            1445-1725           AC109138.10        177946-178226       c
            1726-3966           AC109138.10        172742-174982       c
FEATURES             Location/Qualifiers
     source          1..3966
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 3.86 cM"
     gene            1..3966
                     /gene="Carns1"
                     /gene_synonym="Atpgd1; mKIAA1394"
                     /note="carnosine synthase 1"
                     /db_xref="GeneID:107239"
                     /db_xref="MGI:MGI:2147595"
     exon            1..84
                     /gene="Carns1"
                     /gene_synonym="Atpgd1; mKIAA1394"
                     /inference="alignment:Splign:2.1.0"
     exon            85..111
                     /gene="Carns1"
                     /gene_synonym="Atpgd1; mKIAA1394"
                     /inference="alignment:Splign:2.1.0"
     CDS             109..2952
                     /gene="Carns1"
                     /gene_synonym="Atpgd1; mKIAA1394"
                     /EC_number="6.3.2.11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ATP-grasp domain-containing protein 1; ATP-grasp domain
                     containing 1"
                     /codon_start=1
                     /product="carnosine synthase 1 isoform 1"
                     /protein_id="NP_598909.2"
                     /db_xref="CCDS:CCDS50350.1"
                     /db_xref="GeneID:107239"
                     /db_xref="MGI:MGI:2147595"
                     /translation="MLCLDPLGTEWDSKDLDGKEEPWKSGAGLPPTGCFPGPWRQDIS
                     LDCKGSPEETEARAWTVYYYGLLQSCLQQAGLPETQDRSQAPRTGCPGAEVTLCILGS
                     PSTFLSLLLEGGVQSPGNMLLCLSPAWLMKVATPGQEGEAVLLVSKAVSFYPGGLTFL
                     DDFVPPRHATYFLAGLGPESGRGKEAAELARNLTCPTGTSSELSQLLENRLLMRWLLS
                     QQSGVAVPATLAFTYRPPGLLRGGDASPGLRLVELSGKEGQETLVKEEVEAFVHSEAL
                     GDASQVAVRLSGCRWRGQQALPLHLRVEPSTVVNTVLGLLEKLEEEESVLVEAMCPPV
                     RLPLPGGPAPGPELAVRICAVVCRIQGDRPLLSKVVCGVGRGDRPVRHHYTLPRTLRV
                     ALAQCGLEEEAQVALLEQGIKEAAEGALAAVLALEAGLSVEQRGGRQVHTDFLGVDLV
                     LTVIGRTLTPVVLKLNSGLCLEACGALEGLWAVPRLRRSAEEAAAAPLVETMLRRSGR
                     HLMDGKQLLVIGAGGVSKKFVWEAARDYGLTLHLVESDPNHFASQLVQTFIHFDVTEH
                     RRDEENALLLAELVRARNLKLDGCFSFWDDCLVLTALLCRELGLPCSPPAAMCLAKQK
                     SRTQLHLLRCQGPPWPSTSLHAVACCPLENEADVERAIYQVPLPGVMKLEFGSGAVGV
                     QLVKDGPQCREHFSRILHDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVVFGGR
                     LLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQVVQAAFRCCLGCGLLDGVFNVEL
                     KMTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLASTMVACGLQPALPAHPRARGYL
                     VGIMCLVSQHLQLLSSPSSRETLQTLHDQGQLRLNLLEEALIPGQYEEPYCNVACAGP
                     SPAEACHRLLGICQGLGIDRPNYPVAHFLSHFK"
     exon            112..373
                     /gene="Carns1"
                     /gene_synonym="Atpgd1; mKIAA1394"
                     /inference="alignment:Splign:2.1.0"
     exon            374..463
                     /gene="Carns1"
                     /gene_synonym="Atpgd1; mKIAA1394"
                     /inference="alignment:Splign:2.1.0"
     exon            464..951
                     /gene="Carns1"
                     /gene_synonym="Atpgd1; mKIAA1394"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1126
                     /gene="Carns1"
                     /gene_synonym="Atpgd1; mKIAA1394"
                     /inference="alignment:Splign:2.1.0"
     exon            1127..1212
                     /gene="Carns1"
                     /gene_synonym="Atpgd1; mKIAA1394"
                     /inference="alignment:Splign:2.1.0"
     exon            1213..1444
                     /gene="Carns1"
                     /gene_synonym="Atpgd1; mKIAA1394"
                     /inference="alignment:Splign:2.1.0"
     exon            1445..1725
                     /gene="Carns1"
                     /gene_synonym="Atpgd1; mKIAA1394"
                     /inference="alignment:Splign:2.1.0"
     exon            1726..3966
                     /gene="Carns1"
                     /gene_synonym="Atpgd1; mKIAA1394"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3943..3948
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Carns1"
                     /gene_synonym="Atpgd1; mKIAA1394"
                     /note="hexamer: AATAAA"
     polyA_site      3966
                     /gene="Carns1"
                     /gene_synonym="Atpgd1; mKIAA1394"
                     /note="major polyA site"
ORIGIN      
        1 gttgtgcttc cttcagtgca gaactccctt gtttctgctc accagcctgc ctgcctagcc
       61 tggtccagtt gctgccaaca gcagtctctc tgcctctcta cctccaagat gctctgcctg
      121 gatccactgg gtacggagtg ggactccaag gacctggatg gaaaggaaga accatggaaa
      181 agcggtgctg gcctgccacc cacaggctgc ttccctgggc cctggcgcca ggatatcagc
      241 ctggattgca agggctcccc ggaagagact gaggctcggg cctggactgt gtactactac
      301 ggtctccttc agagttgtct gcagcaagct ggccttcctg agacccagga tcgcagccag
      361 gcacctcgta caggctgccc tggggcagag gtgaccttgt gcattctggg ttctcccagc
      421 accttcctat ctctgttgct ggagggtggg gtccagagcc ctggaaacat gctcctttgc
      481 ctgtcccctg cttggctgat gaaggtggca actccaggcc aagagggtga ggcagtcctg
      541 ctggtctcta aggctgtgag cttctatcca gggggcctga cattcctgga tgactttgtt
      601 ccccctcggc atgctactta cttcctggca ggcctggggc cagaatctgg ccgtggcaag
      661 gaggcagcag agctggctcg gaatctcact tgccccacag gaacctcatc ggagctgtcc
      721 cagctgctgg agaaccggct gctgatgagg tggttgctgt cccagcagag tggtgtggcc
      781 gtgccagcta ccctggcttt cacttatagg cctccggggc tgcttcgggg aggggatgcc
      841 agccctggac tccggctggt ggaactcagt gggaaggagg gccaggaaac actggtgaaa
      901 gaggaagtag aggcctttgt gcactccgag gccttgggtg atgcttcaca ggtggctgtg
      961 aggctcagtg gctgtcgctg gcgtggacag caggcattgc ctctgcacct gcgggtagag
     1021 ccatccacag tggtgaacac ggtgctggga ttgctggaga agctggagga ggaggagagt
     1081 gtccttgtgg aggccatgtg cccacctgtc cggctgccct taccaggcgg tcctgcacct
     1141 ggccctgagc tggctgtgcg tatctgtgca gtggtgtgtc ggattcaggg tgataggccc
     1201 ctactgagta aggtggtgtg tggcgtgggc cgtggggatc gacccgtgcg gcaccactat
     1261 accctgccaa ggacactgag ggtggcgctg gctcagtgtg gcctggaaga ggaggcgcag
     1321 gtggcgcttc tggagcaggg catcaaagaa gcagccgaag gcgcgttggc cgctgtgctg
     1381 gccctggagg ctggactgag tgtggagcag cgtggtggac gccaagtgca caccgacttc
     1441 ctcggcgtgg acttagttct cacggtgatc ggacgcacgc tgacgcccgt ggtccttaag
     1501 ctgaacagtg gcctgtgcct agaggcctgc ggcgcgctcg aggggctgtg ggccgtgcca
     1561 cgcctaagac gctcagctga ggaggcagcg gcagcgccgc tggtggagac tatgctgcgg
     1621 cgctcagggc gccacctcat ggacggcaag cagctgctgg tgatcggcgc cggcggcgtc
     1681 agcaagaagt tcgtgtggga ggcggcgcgg gactacggac tgacgctgca cctggtggaa
     1741 tcagacccca accactttgc atcccaactg gtacagacct ttatccactt tgatgtgact
     1801 gagcaccgga gggatgagga gaatgcgctg ctgctggctg agctggtacg ggcccggaac
     1861 ctgaagctag atggctgctt ctccttctgg gatgactgct tggtgcttac tgctctcctc
     1921 tgccgtgagc tgggtctgcc ctgcagcccc ccagctgcca tgtgcttggc aaagcagaag
     1981 agccgcacac agctacatct gttgcggtgc cagggcccac cctggccttc gacctctctc
     2041 catgctgtgg cctgttgccc attggagaat gaggctgatg tggagagagc catttaccag
     2101 gtacccctgc caggtgtgat gaaactggaa tttgggtcag gagcagtagg cgtgcagctg
     2161 gtgaaggatg ggccccagtg ccgtgagcac ttttcccgga tcctccatga cctgcagggt
     2221 gaggctgacc accctggcat cgggctgggc tggggcaatg ctatgctgct gatggagttt
     2281 gttgagggca cagagcatga cgtggacctg gtggtgttcg gtggacggtt gctggctgct
     2341 ttcgtctccg ataatggccc cacaaggctg cctggcttca cagagactgc agcctgcatg
     2401 cccactgggc tagcaccaga gcaggaggcc caggtggtgc aggcagcctt tcgctgctgc
     2461 ctgggctgtg ggctgctgga tggggttttc aatgtggagc tcaagatgac tggggctggg
     2521 ccaaggctca tcgagattaa ccctcgaatg ggaggcttct accttcgaga ctggatccta
     2581 gagctctatg gtgtggattt gcttctggct tctacaatgg tggcctgtgg cctgcagcct
     2641 gccttgcctg ctcaccctcg tgcccgtggc tacctagtgg gcatcatgtg cctggtgtcc
     2701 cagcacctac agctgctgag ttccccgagc agtagagaga ctctgcaaac cctccatgac
     2761 caggggcaat tacgactcaa cctgctggag gaggccctga tacctggcca gtatgaggag
     2821 ccctactgca atgtggcctg tgctgggccc agccctgctg aggcctgtca ccgcctgcta
     2881 ggcatctgtc agggcttggg cattgacagg cccaactacc ctgttgccca tttcctgtct
     2941 catttcaaat agcactgggg tcaaggagca gcagggatgc agtgccagga ggaggggccg
     3001 tggggctata tttccctgtc cctctctctg tcactttgcc ccaacccagg gtcagcatgc
     3061 taccacaact caggcctatt ccagaacagt agagccattg tgacaccaaa gtcttctgga
     3121 ttcaaggacc ataaaacaag tatctggaat ttgctgggtc ctcttgcctt ccagaaagcc
     3181 tccatctagc cccaggtacc cccaggactc cagcctttaa agaactaaca aatagcagct
     3241 tcttcactgg cacatcagtg cccagcccag atgggggtgg gtgaaaccca ggctcctcct
     3301 ctcttacccc tccaccgcct aggtccagct cttcctgtca cctacacaag gagagaacct
     3361 tcaccagccc ctagccttgg acaaaggcca tgaaatggga gattagcaca ctagccttta
     3421 tgcaaaaccc aggacagttg tagagcctgc tgaaaatgtc tggccgtgct tcactgtgtc
     3481 tgttggcctg agcagtagaa gcaaatgtct gtgctcagca ctaggagtaa acatttccct
     3541 tcatgctttc aggcagaccc tagtgcccct atgttacaga tgaggaagca ggctcagaga
     3601 gagaaaaaaa aaaaaagact gcctccaagt tcctattata gtggatgtag acagaatgcc
     3661 aaggccaacc ttctctgttt actgttttaa acgctcagtt agcctccagg tcctctctcc
     3721 tttctatctt catttatagg cagcactcag actcctaaac acctgcctcc catacaccac
     3781 acacgatctc taccagcttt gttgctttgg cctctggcat tcctagctag cttggccctg
     3841 ggacttctgt gtacaccttt cctcatttta gggagctagc tactctgaaa acacctgtct
     3901 ttgctcagga gccgaggaca gctcctgaaa cctgcctacc taaataaaga cttgttaact
     3961 agtgaa
//
