LOCUS       NM_152420               4259 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens carnosine N-methyltransferase 1 (CARNMT1), transcript
            variant 1, mRNA.
ACCESSION   NM_152420
VERSION     NM_152420.3
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 4259)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 4259)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 4259)
  AUTHORS   Cao,R., Zhang,X., Liu,X., Li,Y. and Li,H.
  TITLE     Molecular basis for histidine N1 position-specific methylation by
            CARNMT1
  JOURNAL   Cell Res 28 (4), 494-496 (2018)
   PUBMED   29463897
  REMARK    GeneRIF: This study solved the cofactor-bound binary, substrate-
            and product-bound ternary crystal structures of human CARNMT1.
            These structural studies revealed the substrate binding mode of
            carnosine, in which N1 position specificity is achieved by precise
            anchoring of the histidine imidazole ring in a recognition pocket
            such that N1 but not N3 is exposed and deprotonated for
            methylation.
REFERENCE   4  (bases 1 to 4259)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 4259)
  AUTHORS   Drozak,J., Piecuch,M., Poleszak,O., Kozlowski,P., Chrobok,L.,
            Baelde,H.J. and de Heer,E.
  TITLE     UPF0586 Protein C9orf41 Homolog Is Anserine-producing
            Methyltransferase
  JOURNAL   J Biol Chem 290 (28), 17190-17205 (2015)
   PUBMED   26001783
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC034033.1, AL158825.12 and
            BM145242.1.
            
            On Nov 22, 2018 this sequence version replaced NM_152420.2.
            
            Summary: The protein encoded by this gene is a methyltransferase
            that converts carnosine to anserine, a dipeptide found abundantly
            in skeletal muscle. The encoded protein can methylate other
            dipeptides as well. Three transcript variants encoding two
            different isoforms have been found for this gene. [provided by
            RefSeq, Feb 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.256357.1,
                                           SRR1660805.211706.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376834.8/ ENSP00000366030.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2092              BC034033.1         102-2193
            2093-3854           AL158825.12        79675-81436         c
            3855-4255           BM145242.1         13-413              c
            4256-4259           AL158825.12        79270-79273         c
FEATURES             Location/Qualifiers
     source          1..4259
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.13"
     gene            1..4259
                     /gene="CARNMT1"
                     /gene_synonym="C9orf41; UPF0586"
                     /note="carnosine N-methyltransferase 1"
                     /db_xref="GeneID:138199"
                     /db_xref="HGNC:HGNC:23435"
                     /db_xref="MIM:616552"
     exon            1..282
                     /gene="CARNMT1"
                     /gene_synonym="C9orf41; UPF0586"
                     /inference="alignment:Splign:2.1.0"
     CDS             53..1282
                     /gene="CARNMT1"
                     /gene_synonym="C9orf41; UPF0586"
                     /EC_number="2.1.1.22"
                     /note="isoform 1 is encoded by transcript variant 1;
                     UPF0586 protein C9orf41"
                     /codon_start=1
                     /product="carnosine N-methyltransferase isoform 1"
                     /protein_id="NP_689633.1"
                     /db_xref="CCDS:CCDS6649.1"
                     /db_xref="GeneID:138199"
                     /db_xref="HGNC:HGNC:23435"
                     /db_xref="MIM:616552"
                     /translation="MQRRRRPPPPTSRLPEGCGGGGGGSEEVEVQFSAGRWGSAAAVS
                     AAAAAATRSTEEEEERLEREHFWKIINAFRYYGTSMHERVNRTERQFRSLPANQQKLL
                     PQFLLHLDKIRKCIDHNQEILLTIVNDCIHMFENKEYGEDGNGKIMPASTFDMDKLKS
                     TLKQFVRDWSETGKAERDACYQPIIKEILKNFPKERWDPSKVNILVPGAGLGRLAWEI
                     AMLGYACQGNEWSFFMLFSSNFVLNRCSEINKYKLYPWIHQFSNNRRSADQIRPIFFP
                     DVDPHSLPPGSNFSMTAGDFQEIYSECNTWDCIATCFFIDTAHNVIDYIDTIWKILKP
                     GGIWINLGPLLYHFENLANELSIELSYEDIKNVVLQYGFKVEVEKESVLSTYTVNDLS
                     MMKYYYECVLFVVRKPQ"
     exon            283..478
                     /gene="CARNMT1"
                     /gene_synonym="C9orf41; UPF0586"
                     /inference="alignment:Splign:2.1.0"
     exon            479..642
                     /gene="CARNMT1"
                     /gene_synonym="C9orf41; UPF0586"
                     /inference="alignment:Splign:2.1.0"
     exon            643..783
                     /gene="CARNMT1"
                     /gene_synonym="C9orf41; UPF0586"
                     /inference="alignment:Splign:2.1.0"
     exon            784..962
                     /gene="CARNMT1"
                     /gene_synonym="C9orf41; UPF0586"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1076
                     /gene="CARNMT1"
                     /gene_synonym="C9orf41; UPF0586"
                     /inference="alignment:Splign:2.1.0"
     exon            1077..1180
                     /gene="CARNMT1"
                     /gene_synonym="C9orf41; UPF0586"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..4259
                     /gene="CARNMT1"
                     /gene_synonym="C9orf41; UPF0586"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4004..4009
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CARNMT1"
                     /gene_synonym="C9orf41; UPF0586"
                     /note="hexamer: ATTAAA"
     polyA_site      4029
                     /gene="CARNMT1"
                     /gene_synonym="C9orf41; UPF0586"
                     /note="major polyA site"
     regulatory      4229..4234
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CARNMT1"
                     /gene_synonym="C9orf41; UPF0586"
                     /note="hexamer: AATAAA"
     polyA_site      4259
                     /gene="CARNMT1"
                     /gene_synonym="C9orf41; UPF0586"
ORIGIN      
        1 gctgtcggtc gcggagagac gcaagcgagc caggccgagg gccgcggcgg cgatgcagcg
       61 acggcgtcgc cctccgccgc ccacctcccg gctgcccgag ggctgcgggg gaggaggcgg
      121 tggcagcgag gaggtggaag tgcagttttc cgccgggcgt tggggctcgg ccgcggcggt
      181 ttcggcggca gcggcggcgg ccacgcgcag caccgaggag gaggaggaga ggcttgagcg
      241 tgagcacttc tggaagatca ttaatgcctt ccgctactac ggcaccagta tgcatgagcg
      301 ggtgaaccga acagaaagac agtttcgatc acttccagct aaccaacaga aactacttcc
      361 tcagtttctt cttcacttgg acaagatccg gaaatgcatt gatcataatc aagaaatact
      421 actgaccatt gtgaatgatt gcatacatat gtttgaaaat aaagaatatg gagaagatgg
      481 gaatggaaag attatgccag catctacatt tgacatggat aagttaaaat ccacgctgaa
      541 acagtttgtg agagactgga gtgaaactgg gaaagcagaa agggatgcct gttaccagcc
      601 aatcattaaa gaaattttaa aaaattttcc aaaagagaga tgggatcctt ctaaagtaaa
      661 tattctggta cctggtgctg gactaggaag actggcctgg gaaatagcta tgctaggtta
      721 tgcttgtcaa ggaaatgaat ggagtttttt tatgctcttt tcttccaact ttgtactcaa
      781 cagatgttct gaaattaata aatataaact ttatccttgg atccatcagt ttagcaataa
      841 ccggagatca gctgatcaga ttcgacccat ctttttccct gatgttgacc cccacagtct
      901 tcctcctggt tctaactttt ctatgacagc aggagatttt caagagattt attcagaatg
      961 caatacctgg gactgtattg ctacctgttt cttcatagac acagctcaca atgtaattga
     1021 ttatattgat acaatatgga aaatactcaa gccaggtgga atttggataa atctaggtcc
     1081 tctgctgtac cactttgaaa atctggcaaa tgaactttcc atagaattga gctatgagga
     1141 tataaaaaac gttgttctgc agtatggatt caaggtagag gtggaaaaag aatctgtatt
     1201 gtcaacatat actgtgaatg atctctctat gatgaaatac tactatgaat gtgtcttgtt
     1261 tgtggtccgt aagccacaat aatggtctca agtgatacca cctggaaaaa agtttagtaa
     1321 gaacaaatgc tgaaatcaac gactcaaaat caactatcag tgatgacagg acacaacctc
     1381 aaatcagtgg tgccttctta ttcctaacga aatttagaaa tagtgtctat tttcttaata
     1441 tgtctattgc tttttcagaa atatactatg ccatgcagat ttgtactaca caagtaaaaa
     1501 tggaggaaat gtcttgaagt atactttttc cttgaagccc agaattgtgt ttcagtagga
     1561 aaaaaaccta atctccagtg tcttcatgat gctgtccatt gcaagtctgc cgaattaatg
     1621 actaatagta ttgaagtaca taataatctt cctttttttg ttgttttgta tgcattgcac
     1681 atgtaacttt tagaagagtc taaggatcct cagtcatatt caacatctgg agttgggact
     1741 ttgttcactt tcaatctaag aaaactatgc gtaaaatatg tctttttttt tttttttctt
     1801 cagagacagg atcccgctct gtctcccagg ccggagtgca gtggcacgat catagctcac
     1861 tgtaacctca aactcctgga ctcaagcgat cttcctgcct tagccttagc ctcctgagta
     1921 gctaggactg taggcatgta ccaccgcgcc tggcctgtgt ctattttatc attcagatta
     1981 atttaatttt gtattttctg gctcagatga acttaaagaa gcatcaaaca tttctttttt
     2041 atgaaatgtt aaatttaata gcatcacagg ccggtaaaat atattcaagt aacagaaata
     2101 tcaaagtctt ttggccacaa taaactgaac actttatgaa agcatactca tcatggatca
     2161 ctttgaaata tacgagatct caacattcaa agtgagaaat aaaaagcctt tattaaaagt
     2221 agtgctagga aacagagaaa ataagaataa aatttaccca tttgaaatat gtgattttca
     2281 gactctaaat gaatacagag tttgacagtg tgatgtttac aataatgtct tttctttaga
     2341 atatctggat tatgaaagca agcacttttt tcattaaaaa aattatatac taggaaaaac
     2401 tgtcataata gtattaatgt ggggaatttt gattatgaaa ttcagggata tattactgcc
     2461 cgtggtctgt gtcttcaata ttgtaagcag cagccatcat gtaatttcag attaatacca
     2521 attttgttcc ctgatagatg gagcttaaac agtatatgct gctttaaatt tctacctcta
     2581 gcagatcttt attggaggga gttttccttt gtatttttta atgtatgata ttctgtttcc
     2641 agtagcttgg aaagtagaga tgactaatgt tttagccttt tcttggagaa aaggaagaac
     2701 tcttcttgaa tattttcaca gatgattgtg attgctttaa atgacctctg tggcaattta
     2761 aattagatgg atttaatctc agtaatgtgc tggtcgcata aatgtcatgt tttaatagga
     2821 aaagttactt gtaaatcttt agacctttgt tgtcacttag gctggggagt cactacccta
     2881 tttggcatct tactagttgg ggggaccttt tccgtgtaca gtgatgggac ttttgtgacc
     2941 tttactctca ctatgcaata gagggtttca tgtagttaat ctgacatgtc aaaattggga
     3001 agactgtaac cttttttttt tttttttaag atttctcttt tttgtgtccc tcaatactta
     3061 gcagatgttc atttggtgga aattcttatt acttacatga atgagtttga atttagtggc
     3121 aaggaagaaa aaaaaaactc aaattattgt tttaaaagaa gaaaacttgc aaagtacata
     3181 agtatttttt aaaaatcaat cgaacagaaa ggaatgcatg ctgtttttca atggcttaga
     3241 catgcttttt attcactgac tagtattcac ttttttacaa cttgtatcaa aacaaatgat
     3301 ctttgttttt gtcacaggca aaaacaggtt gacactggtg ggttggcttt attaattaat
     3361 tttttttcta ttaggttttc tttaataatg ttaaatttct aaattatagc atatgtttta
     3421 gttaattctg aaatcagtta cttcatttgt taatttatcc ctcatatcat gaatattgtt
     3481 ttttaaatgt tctatacaaa tttgcatcac ttcttttctt acagcttttg cagttaatat
     3541 attctaaact tgaaaatgtg gtatcaatca ataatagaag tatcactgga ggatttattt
     3601 agctttgtat ttcttaattt tagtcctagc tactaaagta tgtaagcctt aaagtttaaa
     3661 atgtttttct taaattagct ttatacacaa acattttcat ttactttatg aaatgggagg
     3721 agatagtcca ctgtgcttat gtttttttgt ttaatttcta tattctgaag cagtgcagat
     3781 atagggtatg ctaatcaagt gagcaaggtg gaacatgtac aatataagga gaagctgtaa
     3841 aaatcacagt ataaaattat gaagtttggt aactgtaaaa tgtactgtat ttatatgtaa
     3901 ctctcattct aaaagttgcc acaaaagctg aattggaagc ttcatgtctg catgaaattt
     3961 cctatatttt taatgtgtat gatgaaatta atttttcttg aatattaaag tctgccaatt
     4021 gctatgaaac gatagttgct tggttttcat ctaaattaat gtaactatag atgtggggat
     4081 tttaatgagt tgagcatata tacttttgaa ctcttggatt agcctatttt tatatgcttc
     4141 taagaagtca gtaacatgaa tacttcgcct tataatatgc caggccttat actaactatt
     4201 ttcactttgt ttcattcaag ttcactgtaa taaagttaga atccattgag gaaaatgaa
//
