LOCUS       NM_024766               1512 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens calmodulin-lysine N-methyltransferase (CAMKMT), mRNA.
ACCESSION   NM_024766
VERSION     NM_024766.5
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 1512)
  AUTHORS   Bartholdi,D., Asadollahi,R., Oneda,B., Schmitt-Mechelke,T.,
            Tonella,P., Baumer,A. and Rauch,A.
  TITLE     Further delineation of genotype-phenotype correlation in homozygous
            2p21 deletion syndromes: first description of patients without
            cystinuria
  JOURNAL   Am J Med Genet A 161A (8), 1853-1859 (2013)
   PUBMED   23794250
  REMARK    GeneRIF: Deletion of CAMKMT is associated with Hypotonia-cystinuria
            syndrome.
REFERENCE   2  (bases 1 to 1512)
  AUTHORS   Chung,S., Low,S.K., Zembutsu,H., Takahashi,A., Kubo,M., Sasa,M. and
            Nakamura,Y.
  TITLE     A genome-wide association study of chemotherapy-induced alopecia in
            breast cancer patients
  JOURNAL   Breast Cancer Res 15 (5), R81 (2013)
   PUBMED   24025145
REFERENCE   3  (bases 1 to 1512)
  AUTHORS   Cloutier,P., Lavallee-Adam,M., Faubert,D., Blanchette,M. and
            Coulombe,B.
  TITLE     A newly uncovered group of distantly related lysine
            methyltransferases preferentially interact with molecular
            chaperones to regulate their activity
  JOURNAL   PLoS Genet 9 (1), e1003210 (2013)
   PUBMED   23349634
REFERENCE   4  (bases 1 to 1512)
  AUTHORS   Kennedy,R.B., Ovsyannikova,I.G., Pankratz,V.S., Haralambieva,I.H.,
            Vierkant,R.A. and Poland,G.A.
  TITLE     Genome-wide analysis of polymorphisms associated with cytokine
            responses in smallpox vaccine recipients
  JOURNAL   Hum Genet 131 (9), 1403-1421 (2012)
   PUBMED   22610502
REFERENCE   5  (bases 1 to 1512)
  AUTHORS   Magen,S., Magnani,R., Haziza,S., Hershkovitz,E., Houtz,R., Cambi,F.
            and Parvari,R.
  TITLE     Human calmodulin methyltransferase: expression, activity on
            calmodulin, and Hsp90 dependence
  JOURNAL   PLoS One 7 (12), e52425 (2012)
   PUBMED   23285036
  REMARK    GeneRIF: The CaM KMT is the major, possibly the single,
            methyltransferase of calmodulin in human cells with a wide tissue
            distribution and is a novel Hsp90 client protein.
REFERENCE   6  (bases 1 to 1512)
  AUTHORS   Lango Allen,H., Estrada,K., Lettre,G., Berndt,S.I., Weedon,M.N.,
            Rivadeneira,F., Willer,C.J., Jackson,A.U., Vedantam,S.,
            Raychaudhuri,S., Ferreira,T., Wood,A.R., Weyant,R.J., Segre,A.V.,
            Speliotes,E.K., Wheeler,E., Soranzo,N., Park,J.H., Yang,J.,
            Gudbjartsson,D., Heard-Costa,N.L., Randall,J.C., Qi,L., Vernon
            Smith,A., Magi,R., Pastinen,T., Liang,L., Heid,I.M., Luan,J.,
            Thorleifsson,G., Winkler,T.W., Goddard,M.E., Sin Lo,K., Palmer,C.,
            Workalemahu,T., Aulchenko,Y.S., Johansson,A., Zillikens,M.C.,
            Feitosa,M.F., Esko,T., Johnson,T., Ketkar,S., Kraft,P., Mangino,M.,
            Prokopenko,I., Absher,D., Albrecht,E., Ernst,F., Glazer,N.L.,
            Hayward,C., Hottenga,J.J., Jacobs,K.B., Knowles,J.W., Kutalik,Z.,
            Monda,K.L., Polasek,O., Preuss,M., Rayner,N.W., Robertson,N.R.,
            Steinthorsdottir,V., Tyrer,J.P., Voight,B.F., Wiklund,F., Xu,J.,
            Zhao,J.H., Nyholt,D.R., Pellikka,N., Perola,M., Perry,J.R.,
            Surakka,I., Tammesoo,M.L., Altmaier,E.L., Amin,N., Aspelund,T.,
            Bhangale,T., Boucher,G., Chasman,D.I., Chen,C., Coin,L.,
            Cooper,M.N., Dixon,A.L., Gibson,Q., Grundberg,E., Hao,K., Juhani
            Junttila,M., Kaplan,L.M., Kettunen,J., Konig,I.R., Kwan,T.,
            Lawrence,R.W., Levinson,D.F., Lorentzon,M., McKnight,B.,
            Morris,A.P., Muller,M., Suh Ngwa,J., Purcell,S., Rafelt,S.,
            Salem,R.M., Salvi,E., Sanna,S., Shi,J., Sovio,U., Thompson,J.R.,
            Turchin,M.C., Vandenput,L., Verlaan,D.J., Vitart,V., White,C.C.,
            Ziegler,A., Almgren,P., Balmforth,A.J., Campbell,H., Citterio,L.,
            De Grandi,A., Dominiczak,A., Duan,J., Elliott,P., Elosua,R.,
            Eriksson,J.G., Freimer,N.B., Geus,E.J., Glorioso,N., Haiqing,S.,
            Hartikainen,A.L., Havulinna,A.S., Hicks,A.A., Hui,J., Igl,W.,
            Illig,T., Jula,A., Kajantie,E., Kilpelainen,T.O., Koiranen,M.,
            Kolcic,I., Koskinen,S., Kovacs,P., Laitinen,J., Liu,J., Lokki,M.L.,
            Marusic,A., Maschio,A., Meitinger,T., Mulas,A., Pare,G.,
            Parker,A.N., Peden,J.F., Petersmann,A., Pichler,I.,
            Pietilainen,K.H., Pouta,A., Ridderstrale,M., Rotter,J.I.,
            Sambrook,J.G., Sanders,A.R., Schmidt,C.O., Sinisalo,J., Smit,J.H.,
            Stringham,H.M., Bragi Walters,G., Widen,E., Wild,S.H.,
            Willemsen,G., Zagato,L., Zgaga,L., Zitting,P., Alavere,H.,
            Farrall,M., McArdle,W.L., Nelis,M., Peters,M.J., Ripatti,S., van
            Meurs,J.B., Aben,K.K., Ardlie,K.G., Beckmann,J.S., Beilby,J.P.,
            Bergman,R.N., Bergmann,S., Collins,F.S., Cusi,D., den Heijer,M.,
            Eiriksdottir,G., Gejman,P.V., Hall,A.S., Hamsten,A., Huikuri,H.V.,
            Iribarren,C., Kahonen,M., Kaprio,J., Kathiresan,S., Kiemeney,L.,
            Kocher,T., Launer,L.J., Lehtimaki,T., Melander,O., Mosley,T.H. Jr.,
            Musk,A.W., Nieminen,M.S., O'Donnell,C.J., Ohlsson,C., Oostra,B.,
            Palmer,L.J., Raitakari,O., Ridker,P.M., Rioux,J.D., Rissanen,A.,
            Rivolta,C., Schunkert,H., Shuldiner,A.R., Siscovick,D.S.,
            Stumvoll,M., Tonjes,A., Tuomilehto,J., van Ommen,G.J., Viikari,J.,
            Heath,A.C., Martin,N.G., Montgomery,G.W., Province,M.A., Kayser,M.,
            Arnold,A.M., Atwood,L.D., Boerwinkle,E., Chanock,S.J., Deloukas,P.,
            Gieger,C., Gronberg,H., Hall,P., Hattersley,A.T., Hengstenberg,C.,
            Hoffman,W., Lathrop,G.M., Salomaa,V., Schreiber,S., Uda,M.,
            Waterworth,D., Wright,A.F., Assimes,T.L., Barroso,I., Hofman,A.,
            Mohlke,K.L., Boomsma,D.I., Caulfield,M.J., Cupples,L.A.,
            Erdmann,J., Fox,C.S., Gudnason,V., Gyllensten,U., Harris,T.B.,
            Hayes,R.B., Jarvelin,M.R., Mooser,V., Munroe,P.B., Ouwehand,W.H.,
            Penninx,B.W., Pramstaller,P.P., Quertermous,T., Rudan,I.,
            Samani,N.J., Spector,T.D., Volzke,H., Watkins,H., Wilson,J.F.,
            Groop,L.C., Haritunians,T., Hu,F.B., Kaplan,R.C., Metspalu,A.,
            North,K.E., Schlessinger,D., Wareham,N.J., Hunter,D.J.,
            O'Connell,J.R., Strachan,D.P., Wichmann,H.E., Borecki,I.B., van
            Duijn,C.M., Schadt,E.E., Thorsteinsdottir,U., Peltonen,L.,
            Uitterlinden,A.G., Visscher,P.M., Chatterjee,N., Loos,R.J.,
            Boehnke,M., McCarthy,M.I., Ingelsson,E., Lindgren,C.M.,
            Abecasis,G.R., Stefansson,K., Frayling,T.M. and Hirschhorn,J.N.
  TITLE     Hundreds of variants clustered in genomic loci and biological
            pathways affect human height
  JOURNAL   Nature 467 (7317), 832-838 (2010)
   PUBMED   20881960
REFERENCE   7  (bases 1 to 1512)
  AUTHORS   Magnani,R., Dirk,L.M., Trievel,R.C. and Houtz,R.L.
  TITLE     Calmodulin methyltransferase is an evolutionarily conserved enzyme
            that trimethylates Lys-115 in calmodulin
  JOURNAL   Nat Commun 1, 43 (2010)
   PUBMED   20975703
  REMARK    GeneRIF: Calmodulin methyltransferase is an evolutionarily
            conserved enzyme that trimethylates Lys-115 in calmodulin.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1512)
  AUTHORS   Karasik,D., Hsu,Y.H., Zhou,Y., Cupples,L.A., Kiel,D.P. and
            Demissie,S.
  TITLE     Genome-wide pleiotropy of osteoporosis-related phenotypes: the
            Framingham Study
  JOURNAL   J Bone Miner Res 25 (7), 1555-1563 (2010)
   PUBMED   20200953
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   9  (bases 1 to 1512)
  AUTHORS   Huang,C.C. and Chang,W.S.
  TITLE     Cooperation between NRF-2 and YY-1 transcription factors is
            essential for triggering the expression of the PREPL-C2ORF34
            bidirectional gene pair
  JOURNAL   BMC Mol Biol 10, 67 (2009)
   PUBMED   19575798
  REMARK    GeneRIF: Two key transcription factors, NRF-2 and YY-1, were
            further identified to coordinately participate in driving gene
            expressions of PREPL-C2ORF34 genes pairin an additive manner.
            Publication Status: Online-Only
REFERENCE   10 (bases 1 to 1512)
  AUTHORS   Chabrol,B., Martens,K., Meulemans,S., Cano,A., Jaeken,J.,
            Matthijs,G. and Creemers,J.W.
  TITLE     Deletion of C2orf34, PREPL and SLC3A1 causes atypical
            hypotonia-cystinuria syndrome
  JOURNAL   J Med Genet 45 (5), 314-318 (2008)
   PUBMED   18234729
  REMARK    GeneRIF: a deletion of C2orf34 causes atypical hypotonia-cystinuria
            syndrome
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA760277.1, AK027104.1 and
            AI933944.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_024766.4.
            
            Summary: This gene encodes a class I protein methyltransferase that
            acts in the formation of trimethyllysine in calmodulin. The protein
            contains a AdoMet-binding motif and may play a role in
            calcium-dependent signaling. [provided by RefSeq, Sep 2012].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.645594.1,
                                           SRR3476690.194986.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378494.8/ ENSP00000367755.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                DA760277.1         45-61
            18-1510             AK027104.1         1-1493
            1511-1512           AI933944.1         30-31               c
FEATURES             Location/Qualifiers
     source          1..1512
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     gene            1..1512
                     /gene="CAMKMT"
                     /gene_synonym="C2orf34; Cam; CaM KMT; CLNMT; KMT"
                     /note="calmodulin-lysine N-methyltransferase"
                     /db_xref="GeneID:79823"
                     /db_xref="HGNC:HGNC:26276"
                     /db_xref="MIM:609559"
     exon            1..199
                     /gene="CAMKMT"
                     /gene_synonym="C2orf34; Cam; CaM KMT; CLNMT; KMT"
                     /inference="alignment:Splign:2.1.0"
     CDS             62..1033
                     /gene="CAMKMT"
                     /gene_synonym="C2orf34; Cam; CaM KMT; CLNMT; KMT"
                     /EC_number="2.1.1.60"
                     /codon_start=1
                     /product="calmodulin-lysine N-methyltransferase"
                     /protein_id="NP_079042.1"
                     /db_xref="CCDS:CCDS1820.1"
                     /db_xref="GeneID:79823"
                     /db_xref="HGNC:HGNC:26276"
                     /db_xref="MIM:609559"
                     /translation="MESRVADAGTGETARAAGGSPAVGCTTRGPVVSAPLGAARWKLL
                     RQVLKQKHLDDCLRHVSVRRFESFNLFSVTEGKERETEEEVGAWVQYTSIFCPEYSIS
                     LRHNSGSLNVEDVLTSFDNTGNVCIWPSEEVLAYYCLKHNNIFRALAVCELGGGMTCL
                     AGLMVAISADVKEVLLTDGNEKAIRNVQDIITRNQKAGVFKTQKISSCVLRWDNETDV
                     SQLEGHFDIVMCADCLFLDQYRASLVDAIKRLLQPRGKAMVFAPRRGNTLNQFCNLAE
                     KAGFCIQRHENYDEHISNFHSKLKKENPDIYEENLHYPLLLILTKHG"
     exon            200..372
                     /gene="CAMKMT"
                     /gene_synonym="C2orf34; Cam; CaM KMT; CLNMT; KMT"
                     /inference="alignment:Splign:2.1.0"
     exon            373..437
                     /gene="CAMKMT"
                     /gene_synonym="C2orf34; Cam; CaM KMT; CLNMT; KMT"
                     /inference="alignment:Splign:2.1.0"
     exon            438..498
                     /gene="CAMKMT"
                     /gene_synonym="C2orf34; Cam; CaM KMT; CLNMT; KMT"
                     /inference="alignment:Splign:2.1.0"
     exon            499..553
                     /gene="CAMKMT"
                     /gene_synonym="C2orf34; Cam; CaM KMT; CLNMT; KMT"
                     /inference="alignment:Splign:2.1.0"
     exon            554..617
                     /gene="CAMKMT"
                     /gene_synonym="C2orf34; Cam; CaM KMT; CLNMT; KMT"
                     /inference="alignment:Splign:2.1.0"
     exon            618..684
                     /gene="CAMKMT"
                     /gene_synonym="C2orf34; Cam; CaM KMT; CLNMT; KMT"
                     /inference="alignment:Splign:2.1.0"
     exon            685..759
                     /gene="CAMKMT"
                     /gene_synonym="C2orf34; Cam; CaM KMT; CLNMT; KMT"
                     /inference="alignment:Splign:2.1.0"
     exon            760..823
                     /gene="CAMKMT"
                     /gene_synonym="C2orf34; Cam; CaM KMT; CLNMT; KMT"
                     /inference="alignment:Splign:2.1.0"
     exon            824..955
                     /gene="CAMKMT"
                     /gene_synonym="C2orf34; Cam; CaM KMT; CLNMT; KMT"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1512
                     /gene="CAMKMT"
                     /gene_synonym="C2orf34; Cam; CaM KMT; CLNMT; KMT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1483..1488
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAMKMT"
                     /gene_synonym="C2orf34; Cam; CaM KMT; CLNMT; KMT"
                     /note="hexamer: AATAAA"
     polyA_site      1512
                     /gene="CAMKMT"
                     /gene_synonym="C2orf34; Cam; CaM KMT; CLNMT; KMT"
                     /note="major polyA site"
ORIGIN      
        1 aggtcctggc aggggacgag ctgcggcggt ggcacctccg ggtgtggaag gctccagtga
       61 gatggagtcg cgagtcgcgg acgctgggac cggcgagacc gcgcgagcag cgggcgggag
      121 tccggcagtt ggctgcacca ctcgggggcc cgtagtctcg gcgcccctgg gagccgcccg
      181 gtggaagctc ctgcggcagg ttctgaagca aaaacacctg gatgattgcc tgcgacatgt
      241 atctgtaaga agatttgaat catttaatct gttttcagta acagaaggca aagaaaggga
      301 aactgaagag gaggttggtg catgggtcca atatacaagc atcttctgtc ctgaatacag
      361 tatctcctta aggcataata gtggatcctt gaatgttgaa gatgtcctta ccagctttga
      421 caatacagga aatgtttgca tctggccatc tgaagaggtt ttggcttact actgcctcaa
      481 gcacaataat atattcaggg cccttgctgt gtgtgagcta gggggtggca tgacatgctt
      541 ggctgggctc atggttgcta tttctgcaga tgtcaaagaa gttctgttaa ctgatgggaa
      601 tgaaaaggcc atcagaaatg tgcaagacat catcacaagg aatcagaagg ctggtgtgtt
      661 taagacccag aaaatatcaa gctgcgtttt acgatgggat aatgagacag atgtctctca
      721 actggaagga cattttgaca ttgttatgtg tgctgactgc ctgtttctgg accagtacag
      781 agccagcctt gttgatgcaa taaagagatt actccagccc agggggaaag cgatggtatt
      841 tgccccacgc cgagggaata ctttaaacca gttttgcaat ctagctgaaa aagctggttt
      901 ctgtatccaa agacatgaaa attatgatga acacatttca aacttccact ccaagttgaa
      961 aaaggaaaac ccggacatat atgaagaaaa ccttcattac ccgcttctgc ttattttgac
     1021 caaacatgga tagaagatta agcttctcaa agacgaagaa acgtatcaag tgcataggga
     1081 atatttttac aaaaacggaa atctgtaagg ggtataatcg cctgcctgcg ccctttgcag
     1141 catttcacgt gtgggctatg gactccacct gtcctcaccc acgttattcc ccagctgccc
     1201 tctccagctc cctccccgcc tctttttaca ctctgcttgt tgctcgtcct gccctaaacc
     1261 tttgtttgtc tttaaatgtg tataagctgc ctgtctgtga cttgaatttg actggtgaac
     1321 aaactaaata tttttccctg taattgagac agaatttctt ttgatgatac ccatccctcc
     1381 ttcatttttt tttttttttt ggtctttgtt ctgttttggt ggtggtagtt tttaatcagt
     1441 aaacccagca aatatcatga ttctttcctg gttagaaaaa taaataaagt gtatcttttt
     1501 atctccctcc aa
//
