LOCUS       NM_001166222            3966 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens carnosine synthase 1 (CARNS1), transcript variant 1,
            mRNA.
ACCESSION   NM_001166222
VERSION     NM_001166222.2
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 3966)
  AUTHORS   Zhang,L., Zhang,Y., Zhang,X., Li,X., He,M. and Qiao,S.
  TITLE     Combining bioinformatics analysis and experiments to explore CARNS1
            as a prognostic biomarker for breast cancer
  JOURNAL   Mol Genet Genomic Med 9 (2), e1586 (2021)
   PUBMED   33533160
  REMARK    GeneRIF: Combining bioinformatics analysis and experiments to
            explore CARNS1 as a prognostic biomarker for breast cancer.
REFERENCE   2  (bases 1 to 3966)
  AUTHORS   Peters,V., Klessens,C.Q., Baelde,H.J., Singler,B., Veraar,K.A.,
            Zutinic,A., Drozak,J., Zschocke,J., Schmitt,C.P. and de Heer,E.
  TITLE     Intrinsic carnosine metabolism in the human kidney
  JOURNAL   Amino Acids 47 (12), 2541-2550 (2015)
   PUBMED   26206726
  REMARK    GeneRIF: CNDP1 and CARNS are expressed in glomeruli and tubular
            cells; TauT is expressed in renal epithelial cells; CDNP1 may have
            a role in diabetic neuropathy
REFERENCE   3  (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   4  (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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK294035.1 and AB037815.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001166222.1.
            
            Summary: CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of
            ATPases, catalyzes the formation of carnosine
            (beta-alanyl-L-histidine) and homocarnosine
            (gamma-aminobutyryl-L-histidine), which are found mainly in
            skeletal muscle and the central nervous system, respectively
            (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr
            2010].
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2145743,
                              SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000687366.1/ ENSP00000510668.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-113               AK294035.1         1-113
            114-3966            AB037815.1         1212-5064
FEATURES             Location/Qualifiers
     source          1..3966
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..3966
                     /gene="CARNS1"
                     /gene_synonym="ATPGD1"
                     /note="carnosine synthase 1"
                     /db_xref="GeneID:57571"
                     /db_xref="HGNC:HGNC:29268"
                     /db_xref="MIM:613368"
     exon            1..86
                     /gene="CARNS1"
                     /gene_synonym="ATPGD1"
                     /inference="alignment:Splign:2.1.0"
     exon            87..113
                     /gene="CARNS1"
                     /gene_synonym="ATPGD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             111..2963
                     /gene="CARNS1"
                     /gene_synonym="ATPGD1"
                     /EC_number="6.3.2.11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ATP-grasp domain containing 1; ATP-grasp domain-containing
                     protein 1"
                     /codon_start=1
                     /product="carnosine synthase 1 isoform 1"
                     /protein_id="NP_001159694.1"
                     /db_xref="CCDS:CCDS53667.1"
                     /db_xref="GeneID:57571"
                     /db_xref="HGNC:HGNC:29268"
                     /db_xref="MIM:613368"
                     /translation="MLSLDPSGPEWDCPLGSKDLEEEGPWGGGSGLPPTGCFPGSWRQ
                     DVGLDCKGSPEGAEARAWTVYYYSLLQSCLQQAGLPETQDRGQVPRTGCPGAEVTLCV
                     LGSPSTFLPVLLEGGVQSPGNMLLCLSPAWLMKVPAPGQPGEAALLVSKAVSFHPGGL
                     TFLDDFVPPRRATYFLAGLGLGPGRGREAAELARDLTCPTGASAELARLLEDRLLTRQ
                     LLAQQGGVAVPATLAFTYKPPGLLRGGDASLGLRLVELSGKEGQETLVKEEVEAFLRS
                     EALGDILQVAVKLSGWRWRGRQAWRLHPRAELGAVVDTVLALLEKLEEEESVLVEAVY
                     PPAQLPCSDGPSPGPGLAVRICAVVCRTQGDRPLLSKVVCGVGRGDRPLRHHNSLPRT
                     LEVALAQCGLGEEAQVAAVRQRVKAAAEAALAAVLALEAGLSAEQRGGRRAHTDFLGV
                     DFALTAAGGVLTPVALELNGGLCLEACGALEGLWAAPRLGPAADEAVAAPLVETMLRR
                     SARCLMEGKQLLVVGAGGVSKKFVWEAARDYGLQLHLVESDPNHFASQLVQTFIHFDM
                     TEHRRDEENARLLAELVRARGLKLDGCFSYWDDCLVLTALLCQELGLPCSSPAAMRLA
                     KQKSLTQLHLLHHHGPPWPAPSLHAVPCCPLESEADVERAVHQVPLPGVMKLEFGAGA
                     VGVRLVEDAPQCHEHFSRITRDLQGEADHPGIGLGWGNAMLLMEFVEGTEHDVDLVLF
                     GGRLLAAFVSDNGPTRLPGFTETAACMPTGLAPEQEAQMVQAAFRCCLGCGLLDGVFN
                     VELKLTGAGPRLIEINPRMGGFYLRDWILELYGVDLLLAAVMVACGLRPALPTRPRAR
                     GHLVGVMCLVSQHLQALSSTASRETLQALHDRGLLRLNLLEEALVPGEYEEPYCSVAC
                     AGPSPTEARLRLLGLCQGLGIDGPSYPVAHFLSHFK"
     exon            114..384
                     /gene="CARNS1"
                     /gene_synonym="ATPGD1"
                     /inference="alignment:Splign:2.1.0"
     exon            385..474
                     /gene="CARNS1"
                     /gene_synonym="ATPGD1"
                     /inference="alignment:Splign:2.1.0"
     exon            475..962
                     /gene="CARNS1"
                     /gene_synonym="ATPGD1"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1137
                     /gene="CARNS1"
                     /gene_synonym="ATPGD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1138..1223
                     /gene="CARNS1"
                     /gene_synonym="ATPGD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1224..1455
                     /gene="CARNS1"
                     /gene_synonym="ATPGD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1456..1736
                     /gene="CARNS1"
                     /gene_synonym="ATPGD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1737..3966
                     /gene="CARNS1"
                     /gene_synonym="ATPGD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3946..3951
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CARNS1"
                     /gene_synonym="ATPGD1"
                     /note="hexamer: AATAAA"
     polyA_site      3966
                     /gene="CARNS1"
                     /gene_synonym="ATPGD1"
                     /note="major polyA site"
ORIGIN      
        1 gctgtgccac tgccaccgcc gccgccgctg catcccgccc ggtccgagtc cgcccgccac
       61 gcccgccgag ccgctgccgc cgccagtctc tcagccactc cacccacgag atgctctccc
      121 tggatccatc gggtcccgag tgggattgcc cactgggctc caaggacctg gaggaagagg
      181 gcccctgggg agggggctct ggcctgccgc ccacaggctg cttccctggc tcctggcgcc
      241 aggacgtggg cctggactgc aagggatccc ccgagggggc cgaggcccgg gcttggactg
      301 tctactacta cagcctcctg cagagctgtc tgcagcaagc tggccttccg gagactcagg
      361 accgcggcca ggtgccccgc acaggctgtc ctggggcgga ggtgaccttg tgcgttctgg
      421 gctcccccag cacctttctg cctgtgctgc tggagggtgg ggtccagagc ccgggaaaca
      481 tgctcctttg cctgtcccct gcttggctga tgaaggtgcc agcacccggg cagccgggtg
      541 aggcagccct gctagtctcc aaggctgtga gcttccaccc tgggggcctg acattcctgg
      601 atgactttgt ccccccgcgc cgtgccacct actttttggc aggcctgggc ctggggcctg
      661 gccggggccg agaggcagca gaactcgccc gtgacctgac ctgccccaca ggagcttcgg
      721 ctgagctggc ccggctgctg gaggaccggc tgctgacaag gcagttgctg gcccagcagg
      781 gtggtgtggc tgtgccagca accctggctt tcacctacaa gccgccgggg ctgctgcggg
      841 gaggggatgc cagcctaggg ctacggctgg tggagctgag tggcaaagag ggccaggaga
      901 cgctggtgaa agaggaagtg gaggcttttc tgcgctccga ggccctgggt gatatcctgc
      961 aggtagctgt gaagctcagt ggctggcgct ggcgggggcg gcaggcatgg cgtctgcacc
     1021 cgcgggcaga gctgggtgca gtggtggaca cagtgctggc gctgctggag aagctggagg
     1081 aggaggagag tgtcctggtg gaggctgtgt acccacctgc ccagctgccc tgctcagatg
     1141 gtccttcacc cggccccggc ctggccgtgc gaatctgtgc tgtggtgtgt cggacacagg
     1201 gtgataggcc actgctgagc aaggtggtgt gcggcgtggg ccgcggggac cgccctctac
     1261 ggcaccacaa ctccctgccg aggacgctgg aggtggcgct ggcccagtgc ggcctgggcg
     1321 aggaggcgca ggtggcggct gtgcggcagc gcgtcaaggc ggcggccgag gccgcgctgg
     1381 ccgccgtgct ggctctggag gccggcctga gtgccgagca gcgcggcggg cgccgggcgc
     1441 acacggactt cctgggcgtg gatttcgcgc tgacagcggc cggcggcgtg ctgaccccag
     1501 tggccctgga gctgaacggc ggcctgtgtc tggaggcgtg cggcgcgctg gaggggctgt
     1561 gggccgcgcc gcggctgggg ccggcggccg acgaggcggt ggcggcgccg ctggtggaga
     1621 ccatgcttcg gcggtcggcg cgctgcctca tggagggaaa acagctgctg gtggtcggcg
     1681 ctggcggcgt cagcaagaag ttcgtgtggg aggcggcgcg cgactacggg ctccagctgc
     1741 acctcgtgga gtcagacccc aaccactttg catcccagtt ggtacagacc ttcatccact
     1801 ttgacatgac agagcaccgg agggatgagg agaacgcacg gctgctggca gagttggtgc
     1861 gggctcgcgg cctcaagcta gatggctgct tctcctactg ggatgactgc ctggtgctca
     1921 cagccctgct ctgccaggag ctaggtctgc cctgcagctc cccagctgcc atgcgcctgg
     1981 ctaagcagaa gagcctcacc cagctgcacc tgttgcacca ccatggccca ccctggcctg
     2041 cgccctccct ccatgctgtg ccctgctgcc cactggagag tgaggctgat gtggagaggg
     2101 ccgtgcacca ggtacccctg ccaggtgtca tgaagctgga gttcggggca ggtgcagtgg
     2161 gtgtccggct ggtagaggat gcgccacagt gccatgagca cttttcccgg attacccgag
     2221 acttgcaggg cgaggccgac cacccaggca ttgggctggg ctggggcaat gccatgctgc
     2281 tgatggagtt tgtggagggc accgagcacg acgtggacct ggtgttgttt ggtgggcggt
     2341 tgctggctgc ctttgtctcc gacaatggcc ctacgaggct gcctggcttc actgagacgg
     2401 cggcctgcat gcccaccggg ctggcaccag agcaggaggc acagatggtt caggcagcct
     2461 tccgctgttg cctgggctgc gggttgctcg atggagtctt caacgtggag ctcaagctga
     2521 ccggggctgg gcctcggctt atcgagatca acccccgcat gggtggcttc tacctgcgtg
     2581 attggatcct ggagctctat ggtgttgacc tgctgctggc tgctgttatg gtggcctgtg
     2641 gcttgcgtcc tgccctgccc acccgcccac gtgctcgtgg ccatctggtg ggcgtcatgt
     2701 gccttgtgtc ccagcacctg caggccctga gttccaccgc cagccgtgag accctgcagg
     2761 ccctgcacga ccgtggactg ctacgcctca atctgctgga ggaggccctg gtgcctggcg
     2821 agtatgagga gccctactgc agtgtggcct gtgccggacc cagccccacc gaggcccgtc
     2881 tccgcctgct gggcctctgc cagggcctgg gcatcgatgg gcccagctac cctgttgccc
     2941 acttcctgtc tcacttcaaa tagcactggg gtcagggggc agggaagcag tgctgggtgg
     3001 aggcactgtg gtgccctctg ctccctggag ctcttcctgc ttctctcccc atcaccatgc
     3061 cccagcccca gcctggcccg ctgcaatgcc taggtctgtt ccagagcagc agggcaattt
     3121 agacaccaag gcatcctgga ctcaagggcc tcttgccctc ccgaaggccc cagtccagcc
     3181 tacagcttcc ccagcattct agccttggag aaatgacaat ggccacacac acacacacac
     3241 acacacacac acacctctga cgccagctcc ccaggtggga gtgggcccaa acccagcccc
     3301 tcctgtccac ctctccaggt ctcactctct tcctgccatc tacaagagga gaggacctgg
     3361 ctgggcccca agccttggac aaatcctggg aaaacctgag actagaaccc ttgtcttcct
     3421 cttacccaaa ttctaggata gctctgaagc ctgctggaaa cttggtggca tccaacctgc
     3481 ctcattcggc ctgaccggta gaggcaggtg gcctgtggac agaagtaatc ctctttctgc
     3541 tcaccccagg cagacacaac tgcctatgtt cccccgatga gaggaaacag gctgagagaa
     3601 gaaaaatgac tgctccagga ttataccaca gtggagagcg ggtcacagga catgatgcag
     3661 ggtccaggtt tctgttttga tcaagtctta catgcccatt cagcttctag gcccccctca
     3721 cctccctgcc ctcattcaca agtggccctg agacacgtga acacctccct cctatgcatc
     3781 acaaaccttc tccaccgagc tttggtgctt tggcctctgg cacacctaac tagcattggc
     3841 agaggagagt ctacactctc ttcctcattc agggaagatg ctttaagaaa tcctgcctct
     3901 gtgcagcaga ggagctggag gcagctcccc aggcatccct ccccaaataa aggcttatgt
     3961 actggt
//
