LOCUS       NM_005184               2184 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens calmodulin 3 (CALM3), transcript variant 1, mRNA.
ACCESSION   NM_005184
VERSION     NM_005184.4
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 2184)
  AUTHORS   Fukuyama,M., Horie,M., Kato,K., Aoki,H., Fujita,S., Yoshida,Y.,
            Sakazaki,H., Toda,T., Ueno,M., Izumi,G., Momoi,N., Muneuchi,J.,
            Makiyama,T., Nakagawa,Y. and Ohno,S.
  TITLE     Calmodulinopathy in Japanese Children- Their Cardiac Phenotypes Are
            Severe and Show Early Onset in Fetal Life and Infancy
  JOURNAL   Circ J 87 (12), 1828-1835 (2023)
   PUBMED   37380439
  REMARK    GeneRIF: Calmodulinopathy in Japanese Children - Their Cardiac
            Phenotypes Are Severe and Show Early Onset in Fetal Life and
            Infancy.
REFERENCE   2  (bases 1 to 2184)
  AUTHORS   He,J., Ni,Z. and Li,Z.
  TITLE     CALM3 affects the prognosis of leukemia and hemorrhoids
  JOURNAL   Medicine (Baltimore) 102 (44), e36027 (2023)
   PUBMED   37932969
  REMARK    GeneRIF: CALM3 affects the prognosis of leukemia and hemorrhoids.
REFERENCE   3  (bases 1 to 2184)
  AUTHORS   Pintacuda,G., Hsu,Y.H., Tsafou,K., Li,K.W., Martin,J.M.,
            Riseman,J., Biagini,J.C., Ching,J.K.T., Mena,D.,
            Gonzalez-Lozano,M.A., Egri,S.B., Jaffe,J., Smit,A.B., Fornelos,N.,
            Eggan,K.C. and Lage,K.
  TITLE     Protein interaction studies in human induced neurons indicate
            convergent biology underlying autism spectrum disorders
  JOURNAL   Cell Genom 3 (3), 100250 (2023)
   PUBMED   36950384
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2184)
  AUTHORS   Napolitano,C., Mazzanti,A., Bloise,R. and Priori,S.G.
  TITLE     Catecholaminergic Polymorphic Ventricular Tachycardia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301466
REFERENCE   5  (bases 1 to 2184)
  AUTHORS   Groffen,A.J., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301308
REFERENCE   6  (bases 1 to 2184)
  AUTHORS   Chattopadhyaya,R., Meador,W.E., Means,A.R. and Quiocho,F.A.
  TITLE     Calmodulin structure refined at 1.7 A resolution
  JOURNAL   J Mol Biol 228 (4), 1177-1192 (1992)
   PUBMED   1474585
REFERENCE   7  (bases 1 to 2184)
  AUTHORS   Pegues,J.C. and Friedberg,F.
  TITLE     Multiple mRNAs encoding human calmodulin
  JOURNAL   Biochem Biophys Res Commun 172 (3), 1145-1149 (1990)
   PUBMED   2244899
REFERENCE   8  (bases 1 to 2184)
  AUTHORS   Koller,M., Schnyder,B. and Strehler,E.E.
  TITLE     Structural organization of the human CaMIII calmodulin gene
  JOURNAL   Biochim Biophys Acta 1087 (2), 180-189 (1990)
   PUBMED   2223880
REFERENCE   9  (bases 1 to 2184)
  AUTHORS   Fischer,R., Koller,M., Flura,M., Mathews,S., Strehler-Page,M.A.,
            Krebs,J., Penniston,J.T., Carafoli,E. and Strehler,E.E.
  TITLE     Multiple divergent mRNAs code for a single human calmodulin
  JOURNAL   J Biol Chem 263 (32), 17055-17062 (1988)
   PUBMED   3182832
REFERENCE   10 (bases 1 to 2184)
  AUTHORS   SenGupta,B., Friedberg,F. and Detera-Wadleigh,S.D.
  TITLE     Molecular analysis of human and rat calmodulin complementary DNA
            clones. Evidence for additional active genes in these species
  JOURNAL   J Biol Chem 262 (34), 16663-16670 (1987)
   PUBMED   2445749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC006182.1, BC005137.2 and
            AW883334.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_005184.3.
            
            Summary: This gene encodes a member of a family of proteins that
            binds calcium and functions as a enzymatic co-factor. Activity of
            this protein is important in the regulation of the cell cycle and
            cytokinesis. Multiple alternatively spliced transcript variants
            have been observed at this gene. [provided by RefSeq, Aug 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1 and 3
            encode the same protein (isoform 1).
            
            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 :: BC005137.2, SRR3476690.535809.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000291295.14/ ENSP00000291295.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-461               BC006182.1         181-641
            462-1273            BC005137.2         441-1252
            1274-1292           AW883334.1         205-223             c
            1293-2046           BC005137.2         1272-2025
            2047-2121           BC006182.1         1955-2029
            2122-2184           BC005137.2         2101-2163
FEATURES             Location/Qualifiers
     source          1..2184
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..2184
                     /gene="CALM3"
                     /gene_synonym="CALM; CaM; CAM1; CAM2; CAMB; CaMIII; CPVT6;
                     HEL-S-72; LQT16; PHKD; PHKD3"
                     /note="calmodulin 3"
                     /db_xref="GeneID:808"
                     /db_xref="HGNC:HGNC:1449"
                     /db_xref="MIM:114183"
     exon            1..108
                     /gene="CALM3"
                     /gene_synonym="CALM; CaM; CAM1; CAM2; CAMB; CaMIII; CPVT6;
                     HEL-S-72; LQT16; PHKD; PHKD3"
                     /inference="alignment:Splign:2.1.0"
     CDS             106..555
                     /gene="CALM3"
                     /gene_synonym="CALM; CaM; CAM1; CAM2; CAMB; CaMIII; CPVT6;
                     HEL-S-72; LQT16; PHKD; PHKD3"
                     /EC_number="2.7.11.19"
                     /note="isoform 1 is encoded by transcript variant 1;
                     prepro-calmodulin 3; epididymis secretory protein Li 72;
                     phosphorylase kinase subunit delta; Calmodulin-1;
                     Calmodulin-2; phosphorylase kinase subunit delta 3"
                     /codon_start=1
                     /product="calmodulin-3 isoform 1"
                     /protein_id="NP_005175.2"
                     /db_xref="CCDS:CCDS33061.1"
                     /db_xref="GeneID:808"
                     /db_xref="HGNC:HGNC:1449"
                     /db_xref="MIM:114183"
                     /translation="MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNP
                     TEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYIS
                     AAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK"
     exon            109..139
                     /gene="CALM3"
                     /gene_synonym="CALM; CaM; CAM1; CAM2; CAMB; CaMIII; CPVT6;
                     HEL-S-72; LQT16; PHKD; PHKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            140..283
                     /gene="CALM3"
                     /gene_synonym="CALM; CaM; CAM1; CAM2; CAMB; CaMIII; CPVT6;
                     HEL-S-72; LQT16; PHKD; PHKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            284..390
                     /gene="CALM3"
                     /gene_synonym="CALM; CaM; CAM1; CAM2; CAMB; CaMIII; CPVT6;
                     HEL-S-72; LQT16; PHKD; PHKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            391..526
                     /gene="CALM3"
                     /gene_synonym="CALM; CaM; CAM1; CAM2; CAMB; CaMIII; CPVT6;
                     HEL-S-72; LQT16; PHKD; PHKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            527..2184
                     /gene="CALM3"
                     /gene_synonym="CALM; CaM; CAM1; CAM2; CAMB; CaMIII; CPVT6;
                     HEL-S-72; LQT16; PHKD; PHKD3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      689..694
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CALM3"
                     /gene_synonym="CALM; CaM; CAM1; CAM2; CAMB; CaMIII; CPVT6;
                     HEL-S-72; LQT16; PHKD; PHKD3"
                     /note="hexamer: AACAAA"
     polyA_site      707
                     /gene="CALM3"
                     /gene_synonym="CALM; CaM; CAM1; CAM2; CAMB; CaMIII; CPVT6;
                     HEL-S-72; LQT16; PHKD; PHKD3"
                     /note="major polyA site"
     regulatory      2162..2167
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CALM3"
                     /gene_synonym="CALM; CaM; CAM1; CAM2; CAMB; CaMIII; CPVT6;
                     HEL-S-72; LQT16; PHKD; PHKD3"
                     /note="hexamer: AATAAA"
     polyA_site      2184
                     /gene="CALM3"
                     /gene_synonym="CALM; CaM; CAM1; CAM2; CAMB; CaMIII; CPVT6;
                     HEL-S-72; LQT16; PHKD; PHKD3"
                     /note="major polyA site"
ORIGIN      
        1 agtgagtgtg gaggcgcgga cgcgcggcgg agctggaact gctgcagctg ctgccgccgc
       61 cggaggaacc ttgatccccg tgctccggac accccgggcc tcgccatggc tgaccagctg
      121 actgaggagc agattgcaga gttcaaggag gccttctccc tctttgacaa ggatggagat
      181 ggcactatca ccaccaagga gttggggaca gtgatgagat ccctgggaca gaaccccact
      241 gaagcagagc tgcaggatat gatcaatgag gtggatgcag atgggaacgg gaccattgac
      301 ttcccggagt tcctgaccat gatggccaga aagatgaagg acacagacag tgaggaggag
      361 atccgagagg cgttccgtgt ctttgacaag gatgggaatg gctacatcag cgccgcagag
      421 ctgcgtcacg taatgacgaa cctgggggag aagctgaccg atgaggaggt ggatgagatg
      481 atcagggagg ctgacatcga tggagatggc caggtcaatt atgaagagtt tgtacagatg
      541 atgactgcaa agtgaaggcc ccccgggcag ctggcgatgc ccgttctctt gatctctctc
      601 ttctcgcgcg cgcactctct cttcaacact cccctgcgta ccccggttct agcaaacacc
      661 aattgattga ctgagaatct gataaagcaa caaaagattt gtcccaagct gcatgattgc
      721 tctttctcct tcttccctga gtctctctcc atgcccctca tctcttcctt ttgccctcgc
      781 ctcttccatc catgtcttcc aaggcctgat gcattcataa gttgaagccc tccccagatc
      841 cccttgggga gcctctgccc tcctccagcc cggatggctc tcctccattt tggtttgttt
      901 cctcttgttt gtcatcttat tttgggtgct ggggtggctg ccagccctgt cccgggacct
      961 gctgggaggg acaagaggcc ctcccccagg cagaagagca tgccctttgc cgttgcatgc
     1021 aaccagccct gtgattccac gtgcagatcc cagcagcctg ttggggcagg ggtgccaaga
     1081 gaggcattcc agaaggactg agggggcgtt gaggaattgt ggcgttgact ggatgtggcc
     1141 caggaggggg tcgagggggc caactcacag aaggggactg acagtgggca acactcacat
     1201 cccactggct gctgttctga aaccatctga ttggctttct gaggtttggc tgggtgggga
     1261 ctgctcattt ggccactctg caaattggac ttgcccgcgt tcctgaagcg ctctcgagct
     1321 gttctgtaaa tacctggtgc taacatccca tgccgctccc tcctcacgat gcacccaccg
     1381 ccctgagggc ccgtcctagg aatggatgtg gggatggtcg ctttgtaatg tgctggttct
     1441 cttttttttt ctttcccctc tatggccctt aagactttca ttttgttcag aaccatgctg
     1501 ggctagctaa agggtgggga gagggaagat gggccccacc acgctctcaa gagaacgcac
     1561 ctgcaataaa acagtcttgt cggccagctg cccaggggac ggcagctaca gcagcctctg
     1621 cgtcctggtc cgccagcacc tcccgcttct ccgtggtgac ttggcgccgc ttcctcacat
     1681 ctgtgctccg tgccctcttc cctgcctctt ccctcgccca cctgcctgcc cccatactcc
     1741 cccagcggag agcatgatcc gtgcccttgc ttctgacttt cgcctctggg acaagtaagt
     1801 caatgtgggc agttcagtcg tctgggtttt ttcccctttt ctgttcattt catctggctc
     1861 cccccaccac ctccccaccc caccccccac cccctgcttc ccctcactgc ccaggtcgat
     1921 caagtggctt ttcctgggac ctgcccagct ttgagaatct cttctcatcc accctctggc
     1981 acccagcctc tgagggaagg agggatgggg catagtggga gacccagcca agagctgagg
     2041 gtaagggcag gtaggcgtga ggctgtggac attttcggaa tgttttggtt ttgttttttt
     2101 taaaccgggc aatattgtgt tcagttcaag ctgtgaagaa aaatatatat caatgttttc
     2161 caataaaata cagtgactac ctga
//
