LOCUS       NM_006888               4203 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens calmodulin 1 (CALM1), transcript variant 2, mRNA.
ACCESSION   NM_006888
VERSION     NM_006888.6
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 4203)
  AUTHORS   Greene,D. and Shiferaw,Y.
  TITLE     Identifying Key Binding Interactions Between the Cardiac L-Type
            Calcium Channel and Calmodulin Using Molecular Dynamics Simulations
  JOURNAL   J Phys Chem B 128 (25), 6097-6111 (2024)
   PUBMED   38870543
  REMARK    GeneRIF: Identifying Key Binding Interactions Between the Cardiac
            L-Type Calcium Channel and Calmodulin Using Molecular Dynamics
            Simulations.
REFERENCE   2  (bases 1 to 4203)
  AUTHORS   Segura,E., Zhao,J., Broszczak,M., Audet,F., Sauve,R. and Parent,L.
  TITLE     Investigating the Impact of Electrostatic Interactions on
            Calmodulin Binding and Ca2+-Dependent Activation of the
            Calcium-Gated Potassium SK4 Channel
  JOURNAL   Int J Mol Sci 25 (8), 4255 (2024)
   PUBMED   38673845
  REMARK    GeneRIF: Investigating the Impact of Electrostatic Interactions on
            Calmodulin Binding and Ca[2+]-Dependent Activation of the
            Calcium-Gated Potassium SK4 Channel.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4203)
  AUTHORS   Kreida,S., Roche,J.V., Missel,J.W., Al-Jubair,T., Hagstromer,C.J.,
            Wittenbecher,V., Linse,S., Gourdon,P. and Tornroth-Horsefield,S.
  TITLE     The role of phosphorylation in calmodulin-mediated gating of human
            AQP0
  JOURNAL   Biochem J 481 (1), 17-32 (2024)
   PUBMED   38032258
  REMARK    GeneRIF: The role of phosphorylation in calmodulin-mediated gating
            of human AQP0.
REFERENCE   4  (bases 1 to 4203)
  AUTHORS   Rhyner,J.A., Ottiger,M., Wicki,R., Greenwood,T.M. and Strehler,E.E.
  TITLE     Structure of the human CALM1 calmodulin gene and identification of
            two CALM1-related pseudogenes CALM1P1 and CALM1P2
  JOURNAL   Eur J Biochem 225 (1), 71-82 (1994)
   PUBMED   7925473
REFERENCE   5  (bases 1 to 4203)
  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   6  (bases 1 to 4203)
  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   7  (bases 1 to 4203)
  AUTHORS   Kessler,F., Falchetto,R., Heim,R., Meili,R., Vorherr,T.,
            Strehler,E.E. and Carafoli,E.
  TITLE     Study of calmodulin binding to the alternatively spliced C-terminal
            domain of the plasma membrane Ca2+ pump
  JOURNAL   Biochemistry 31 (47), 11785-11792 (1992)
   PUBMED   1332771
REFERENCE   8  (bases 1 to 4203)
  AUTHORS   Sacks,D.B., Davis,H.W., Crimmins,D.L. and McDonald,J.M.
  TITLE     Insulin-stimulated phosphorylation of calmodulin
  JOURNAL   Biochem J 286 (Pt 1) (Pt 1), 211-216 (1992)
   PUBMED   1520270
REFERENCE   9  (bases 1 to 4203)
  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   10 (bases 1 to 4203)
  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 AU122722.1, BC011834.2,
            AL512791.3 and AI651063.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006888.5.
            
            Summary: This gene encodes one of three calmodulin proteins which
            are members of the EF-hand calcium-binding protein family.
            Calcium-induced activation of calmodulin regulates and modulates
            the function of cardiac ion channels. Two pseudogenes have been
            identified on chromosome 7 and X. Multiple transcript variants
            encoding different isoforms have been found for this gene.A
            missense mutation in the CALM1 gene has been associated with
            ventricular tachycardia.[provided by RefSeq, May 2020].
            
            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.
            
            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 :: SRR1803613.169209.1,
                                           SRR1803614.92988.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356978.9/ ENSP00000349467.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-119               AU122722.1         1-119
            120-1520            BC011834.2         120-1520
            1521-4189           AL512791.3         72669-75337
            4190-4203           AI651063.1         20-33               c
FEATURES             Location/Qualifiers
     source          1..4203
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.11"
     gene            1..4203
                     /gene="CALM1"
                     /gene_synonym="CALML2; caM; CAM2; CAM3; CAMB; CAMC; CAMI;
                     CAMIII; CPVT4; DD132; LQT14; PHKD; PHKD1"
                     /note="calmodulin 1"
                     /db_xref="GeneID:801"
                     /db_xref="HGNC:HGNC:1442"
                     /db_xref="MIM:114180"
     exon            1..205
                     /gene="CALM1"
                     /gene_synonym="CALML2; caM; CAM2; CAM3; CAMB; CAMC; CAMI;
                     CAMIII; CPVT4; DD132; LQT14; PHKD; PHKD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             203..652
                     /gene="CALM1"
                     /gene_synonym="CALML2; caM; CAM2; CAM3; CAMB; CAMC; CAMI;
                     CAMIII; CPVT4; DD132; LQT14; PHKD; PHKD1"
                     /EC_number="2.7.11.19"
                     /note="isoform 2 is encoded by transcript variant 2;
                     phosphorylase kinase, delta subunit; prepro-calmodulin 1;
                     calmodulin 1 (phosphorylase kinase, delta); phosphorylase
                     kinase subunit delta; Calmodulin-2; Calmodulin-3;
                     phosphorylase kinase subunit delta 1"
                     /codon_start=1
                     /product="calmodulin-1 isoform 2"
                     /protein_id="NP_008819.1"
                     /db_xref="CCDS:CCDS9892.1"
                     /db_xref="GeneID:801"
                     /db_xref="HGNC:HGNC:1442"
                     /db_xref="MIM:114180"
                     /translation="MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNP
                     TEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYIS
                     AAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK"
     exon            206..236
                     /gene="CALM1"
                     /gene_synonym="CALML2; caM; CAM2; CAM3; CAMB; CAMC; CAMI;
                     CAMIII; CPVT4; DD132; LQT14; PHKD; PHKD1"
                     /inference="alignment:Splign:2.1.0"
     exon            237..380
                     /gene="CALM1"
                     /gene_synonym="CALML2; caM; CAM2; CAM3; CAMB; CAMC; CAMI;
                     CAMIII; CPVT4; DD132; LQT14; PHKD; PHKD1"
                     /inference="alignment:Splign:2.1.0"
     exon            381..487
                     /gene="CALM1"
                     /gene_synonym="CALML2; caM; CAM2; CAM3; CAMB; CAMC; CAMI;
                     CAMIII; CPVT4; DD132; LQT14; PHKD; PHKD1"
                     /inference="alignment:Splign:2.1.0"
     exon            488..623
                     /gene="CALM1"
                     /gene_synonym="CALML2; caM; CAM2; CAM3; CAMB; CAMC; CAMI;
                     CAMIII; CPVT4; DD132; LQT14; PHKD; PHKD1"
                     /inference="alignment:Splign:2.1.0"
     exon            624..4203
                     /gene="CALM1"
                     /gene_synonym="CALML2; caM; CAM2; CAM3; CAMB; CAMC; CAMI;
                     CAMIII; CPVT4; DD132; LQT14; PHKD; PHKD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1523..1528
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CALM1"
                     /gene_synonym="CALML2; caM; CAM2; CAM3; CAMB; CAMC; CAMI;
                     CAMIII; CPVT4; DD132; LQT14; PHKD; PHKD1"
                     /note="hexamer: AATAAA"
     polyA_site      1545
                     /gene="CALM1"
                     /gene_synonym="CALML2; caM; CAM2; CAM3; CAMB; CAMC; CAMI;
                     CAMIII; CPVT4; DD132; LQT14; PHKD; PHKD1"
                     /note="major polyA site"
     regulatory      4173..4178
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CALM1"
                     /gene_synonym="CALML2; caM; CAM2; CAM3; CAMB; CAMC; CAMI;
                     CAMIII; CPVT4; DD132; LQT14; PHKD; PHKD1"
                     /note="hexamer: AATAAA"
     polyA_site      4203
                     /gene="CALM1"
                     /gene_synonym="CALML2; caM; CAM2; CAM3; CAMB; CAMC; CAMI;
                     CAMIII; CPVT4; DD132; LQT14; PHKD; PHKD1"
ORIGIN      
        1 ggcagtggtg ctgggagtgt cgtggacgcc gtgccgttac tcgtagtcag gcggcggcgc
       61 aggcggcggc ggcggcatag cgcacagcgc gccttagcag cagcagcagc agcagcggca
      121 tcggaggtac ccccgccgtc gcagcccccg cgctggtgca gccaccctcg ctccctctgc
      181 tcttcctccc ttcgctcgca ccatggctga tcagctgacc gaagaacaga ttgctgaatt
      241 caaggaagcc ttctccctat ttgataaaga tggcgatggc accatcacaa caaaggaact
      301 tggaactgtc atgaggtcac tgggtcagaa cccaacagaa gctgaattgc aggatatgat
      361 caatgaagtg gatgctgatg gtaatggcac cattgacttc cccgaatttt tgactatgat
      421 ggctagaaaa atgaaagata cagatagtga agaagaaatc cgtgaggcat tccgagtctt
      481 tgacaaggat ggcaatggtt atatcagtgc agcagaacta cgtcacgtca tgacaaactt
      541 aggagaaaaa ctaacagatg aagaagtaga tgaaatgatc agagaagcag atattgatgg
      601 agacggacaa gtcaactatg aagaattcgt acagatgatg actgcaaaat gaagacctac
      661 tttcaactcc tttttccccc ctctagaaga atcaaattga atcttttact tacctcttgc
      721 aaaaaaaaga aaaaagaaaa aagttcattt attcattctg tttctatata gcaaaactga
      781 atgtcaaaag taccttctgt ccacacacac aaaatctgca tgtattggtt ggtggtcctg
      841 tcccctaaag atcaagctac acatcagttt tacaatataa atacttgtac taccttaatg
      901 ataaggactc cttaaagttc catttgctaa tgattaatac actgtttggg ctggccagtt
      961 tttcatgcat gcagcttgac gattgagcac agtcaggcct ttgtattaaa aatgaaaaat
     1021 gaaaaaacaa attcaaaacc tattcaaatg ggttctagtt caatttgttt agtataaatt
     1081 gtcatagctg gtttactgaa aacaaacaca tttaaaattg gtttacctca ggatgacgtg
     1141 cagaaaaatg ggtgaaggat aaaccgttga gacgtggccc cactggtagg atggtcctct
     1201 tgtacttcgt gtgctccgac ccatggtgac gatgacacac cctggtggca tgcccgtgta
     1261 tgttggttta gcgttgtctg cattgttcta gagtgaaaca ggtgtcaggc tgtcactgtt
     1321 cacacaaatt tttaataaga aacatttacc aagggagcat ctttggactc tctgttttta
     1381 aaaccttctg aaccatgact tggagccggc agagtaggct gtggctgtgg acttcagcac
     1441 aaccatcaac attgctgttc aaagaaatta cagtttacgt ccattccaag ttgtaaatgc
     1501 tagtcttttt tttttttttt ccaataaaaa gaccattaac ttaaagtggt gttaaatgct
     1561 ttgtaaagct gagatctaaa tggggacaag gcaggtggag gggaggccag tgtacatgta
     1621 aatgcccaca gcccagcatt gggtttccct cccaaggccc cagcaccaac ctctgagccc
     1681 aagaccttgc ctgaaaacaa gcagataccg attgcttcat cctatttatg gacatgtagg
     1741 tctagttgca ttttcactgg ggggaggggg gaaggtgaat tatggtaact tttaatgatc
     1801 tattcaggca gtagagctct taaggaaaaa aaaaaaccca ctttctctca agcatgtatt
     1861 taggggttgt tctcaattgt gctgctgatt acctgtctta tgtaactact tgagaccatc
     1921 tgcaagagac atgatttagt gtgtctgtaa ttcaatcttc gctgtgtgtg gtagaagcag
     1981 tagtcacttt tgtaagccag tctcttcatg cctaaaagac actaccagtc acctttgatt
     2041 cgcgactttt aatttatgat tatacttagc ctcctcctcc tttttttttt tttcccaagt
     2101 tgacttgact ttgctttttt ccccccaagt agaactaatg ctagcttcca gcttgaaagt
     2161 aaaactccag tgtggagtga attttgtgtc taattataaa cctgtaacca aaactcagac
     2221 atctggtact ggtctttgca ttgagattgg tccctgtaaa acccccttta aaagcatatt
     2281 gcatttagta cagagctctt ttttgaaatg aaggctggag atgtgcattt ttcacggtgt
     2341 taactggttg tatcttatta gcaaggagat tggggttttg agtgtttgcg tgggtggttt
     2401 caatttgcca gggaacagtg gcaggctgct agcaaggcag tgagaagctc ttggcagcca
     2461 aatgggtgca ttcagggctg atttatagag acccttggct tctccttctc ctactccctg
     2521 tctttctggc attttgtagc ttgttagatt ttctgccaga ggggtgggtc agagcagtgg
     2581 aggggagaca tcgcccatgt gcttctgcta ctggtccttg ggctgggtgg ttggtagagg
     2641 agatgttgac actatgagct aagggttggc ttttgtaatt acctgaatct gaaaggaatg
     2701 cctaaggtta ccttggggtt tctcttctgg tgagataggg ttcctggttt gagtaagtta
     2761 atgtcctgga tatttcttgt ggcagggggt ggtcaaagag cctgattgct gacccagtct
     2821 caggcctgtg gtcgatgacc tctcggtagt ttcaaagggg gctggagggg gatatttgac
     2881 ttgttttttc gaaatgtagc cttctaaccc tcaagtcttt agaagctggg tggactctta
     2941 gtggtcctgc agcgtatcct aaaagactac ctttgaaaca ggattcttgt atggccagga
     3001 tcctgtctgg gaaccagaaa ccctacaccc tccccctcca gggaatgctg agttccagtt
     3061 ttgagcagag gtgaggcaga atccactgta gccttccgcc ctggtatttg gggggatgac
     3121 cagcccaggc gttgggtgtt agtctgcatg agtttgtgag aggaaatagc tgggtgtcct
     3181 ggcagtgccc ttgaagttgg ttaggacctt cctgtaaact cttgccccta cttctaacta
     3241 ctctataaat atatacatat atttatatat aaagtgatta gttgaactgg catcctgctt
     3301 tagcctgaga cttgccataa gaaactgctg agtacttggc aaaccctttc atagttttgt
     3361 tctccatctg tttggggtag gtgttgagcg aggcaaatgg atctcgatat ttcagatggg
     3421 cttttgatgc actgttgcca aggaaggctt tttctgattt tttgacaaat gaatttttgc
     3481 acactttcat tggtgtcttt cggcaactta cacacattga aaatgagcta ttgtacatat
     3541 ttttatattc tctttataaa tgcatgtctg attgtacttg taacaatatt gtaatgaacg
     3601 gctgtgcagt aggcccagcg ctgctgtgtc tcgtcagagg aatagcttac cacgaacccc
     3661 tcagcatact gggaatctct tcctgaacaa cgaatgtaaa tttggtcaag tctactcttc
     3721 cgttcattca attattttaa gcatttgaat tatttattgt atatcctaaa tatatttctc
     3781 ctttggcagt gactagattt ccactaatgt gtcttaatct atccctccag ctggcagtta
     3841 ctgttttttt aatcccctga agttgtcctg taggagacag aaattctttg ctgtctgtat
     3901 cccttggagt aagaaggtag tggcatgggt ggagtgtgtg ttctttctcc aaatctatta
     3961 tgatgtttat taaacacttc tgtagcaaag atggtggtag ttcttttgtt actgaagttg
     4021 cccttcacca tggctatttg aaaaggagat gtacttggac gtttctgtaa atcttgagat
     4081 aaactgtttg gagatttaac cacctctctg atgggggacc aactctatgg aaattgtaaa
     4141 tacgttttat ttataaacct ggcactgtat tcaataaaca tttctgcagc ctttcatctc
     4201 taa
//
