LOCUS       NM_002667               2989 bp    mRNA    linear   PRI 15-DEC-2024
DEFINITION  Homo sapiens phospholamban (PLN), mRNA.
ACCESSION   NM_002667
VERSION     NM_002667.5
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 2989)
  AUTHORS   Armanious,G.P., Lemieux,M.J., Espinoza-Fonseca,L.M. and Young,H.S.
  TITLE     Missense variants in phospholamban and cardiac myosin binding
            protein identified in patients with a family history and clinical
            diagnosis of dilated cardiomyopathy
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1871 (4), 119699 (2024)
   PUBMED   38387507
  REMARK    GeneRIF: Missense variants in phospholamban and cardiac myosin
            binding protein identified in patients with a family history and
            clinical diagnosis of dilated cardiomyopathy.
            Review article
REFERENCE   2  (bases 1 to 2989)
  AUTHORS   Lopera-Maya,E.A., Li,S., de Brouwer,R., Nolte,I.M., van Breen,J.,
            Jongbloed,J.D.H., Swertz,M.A., Snieder,H., Franke,L., Wijmenga,C.,
            de Boer,R.A., Deelen,P., van der Zwaag,P.A. and Sanna,S.
  CONSRTM   Netherlands A. C. M./P. L. N. Registry; Lifelines Cohort Study
  TITLE     Phenotypic and Genetic Factors Associated with Absence of
            Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers
  JOURNAL   J Cardiovasc Transl Res 16 (6), 1251-1266 (2023)
   PUBMED   36622581
  REMARK    GeneRIF: Phenotypic and Genetic Factors Associated with Absence of
            Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers.
REFERENCE   3  (bases 1 to 2989)
  AUTHORS   Vafiadaki,E., Haghighi,K., Arvanitis,D.A., Kranias,E.G. and
            Sanoudou,D.
  TITLE     Aberrant PLN-R14del Protein Interactions Intensify SERCA2a
            Inhibition, Driving Impaired Ca2+ Handling and Arrhythmogenesis
  JOURNAL   Int J Mol Sci 23 (13), 6947 (2022)
   PUBMED   35805951
  REMARK    GeneRIF: Aberrant PLN-R14del Protein Interactions Intensify SERCA2a
            Inhibition, Driving Impaired Ca(2+) Handling and Arrhythmogenesis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2989)
  AUTHORS   Schwinger,R.H., Bohm,M., Schmidt,U., Karczewski,P., Bavendiek,U.,
            Flesch,M., Krause,E.G. and Erdmann,E.
  TITLE     Unchanged protein levels of SERCA II and phospholamban but reduced
            Ca2+ uptake and Ca(2+)-ATPase activity of cardiac sarcoplasmic
            reticulum from dilated cardiomyopathy patients compared with
            patients with nonfailing hearts
  JOURNAL   Circulation 92 (11), 3220-3228 (1995)
   PUBMED   7586307
REFERENCE   5  (bases 1 to 2989)
  AUTHORS   Adams,P.D., Arkin,I.T., Engelman,D.M. and Brunger,A.T.
  TITLE     Computational searching and mutagenesis suggest a structure for the
            pentameric transmembrane domain of phospholamban
  JOURNAL   Nat Struct Biol 2 (2), 154-162 (1995)
   PUBMED   7749920
REFERENCE   6  (bases 1 to 2989)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301725
REFERENCE   7  (bases 1 to 2989)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301486
REFERENCE   8  (bases 1 to 2989)
  AUTHORS   McNally,E., MacLeod,H. and Dellefave-Castillo,L.
  TITLE     Arrhythmogenic Right Ventricular Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301310
REFERENCE   9  (bases 1 to 2989)
  AUTHORS   Fujii,J., Zarain-Herzberg,A., Willard,H.F., Tada,M. and
            MacLennan,D.H.
  TITLE     Structure of the rabbit phospholamban gene, cloning of the human
            cDNA, and assignment of the gene to human chromosome 6
  JOURNAL   J Biol Chem 266 (18), 11669-11675 (1991)
   PUBMED   1828805
REFERENCE   10 (bases 1 to 2989)
  AUTHORS   Simmerman,H.K., Collins,J.H., Theibert,J.L., Wegener,A.D. and
            Jones,L.R.
  TITLE     Sequence analysis of phospholamban. Identification of
            phosphorylation sites and two major structural domains
  JOURNAL   J Biol Chem 261 (28), 13333-13341 (1986)
   PUBMED   3759968
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP257094.1, M63603.1,
            BC005269.1, AK129844.1, N80934.1 and Z99496.1.
            
            On Nov 22, 2018 this sequence version replaced NM_002667.4.
            
            Summary: The protein encoded by this gene is found as a pentamer
            and is a major substrate for the cAMP-dependent protein kinase in
            cardiac muscle. The encoded protein is an inhibitor of cardiac
            muscle sarcoplasmic reticulum Ca(2+)-ATPase in the unphosphorylated
            state, but inhibition is relieved upon phosphorylation of the
            protein. The subsequent activation of the Ca(2+) pump leads to
            enhanced muscle relaxation rates, thereby contributing to the
            inotropic response elicited in heart by beta-agonists. The encoded
            protein is a key regulator of cardiac diastolic function. Mutations
            in this gene are a cause of inherited human dilated cardiomyopathy
            with refractory congestive heart failure, and also familial
            hypertrophic cardiomyopathy. [provided by RefSeq, Apr 2016].
            
            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 :: SRR5189655.217116.1,
                                           SRR1660809.23734.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357525.6/ ENSP00000350132.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                BP257094.1         34-46
            14-1648             M63603.1           1-1635
            1649-1697           BC005269.1         1615-1663
            1698-2672           AK129844.1         38-1012
            2673-2988           N80934.1           1-316               c
            2989-2989           Z99496.1           62154-62154         c
FEATURES             Location/Qualifiers
     source          1..2989
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.31"
     gene            1..2989
                     /gene="PLN"
                     /gene_synonym="CMD1P; CMH18; PLB"
                     /note="phospholamban"
                     /db_xref="GeneID:5350"
                     /db_xref="HGNC:HGNC:9080"
                     /db_xref="MIM:172405"
     exon            1..97
                     /gene="PLN"
                     /gene_synonym="CMD1P; CMH18; PLB"
                     /inference="alignment:Splign:2.1.0"
     exon            98..2989
                     /gene="PLN"
                     /gene_synonym="CMD1P; CMH18; PLB"
                     /inference="alignment:Splign:2.1.0"
     CDS             195..353
                     /gene="PLN"
                     /gene_synonym="CMD1P; CMH18; PLB"
                     /note="cardiac phospholamban"
                     /codon_start=1
                     /product="phospholamban"
                     /protein_id="NP_002658.1"
                     /db_xref="CCDS:CCDS5120.1"
                     /db_xref="GeneID:5350"
                     /db_xref="HGNC:HGNC:9080"
                     /db_xref="MIM:172405"
                     /translation="MEKVQYLTRSAIRRASTIEMPQQARQKLQNLFINFCLILICLLL
                     ICIIVMLL"
     regulatory      584..589
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLN"
                     /gene_synonym="CMD1P; CMH18; PLB"
                     /note="hexamer: TATAAA"
     polyA_site      611
                     /gene="PLN"
                     /gene_synonym="CMD1P; CMH18; PLB"
                     /note="major polyA site"
     regulatory      1676..1681
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLN"
                     /gene_synonym="CMD1P; CMH18; PLB"
                     /note="hexamer: ATTAAA"
     polyA_site      1697
                     /gene="PLN"
                     /gene_synonym="CMD1P; CMH18; PLB"
                     /note="major polyA site"
     regulatory      1995..2000
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLN"
                     /gene_synonym="CMD1P; CMH18; PLB"
                     /note="hexamer: AATAAA"
     polyA_site      2019
                     /gene="PLN"
                     /gene_synonym="CMD1P; CMH18; PLB"
     regulatory      2628..2633
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLN"
                     /gene_synonym="CMD1P; CMH18; PLB"
                     /note="hexamer: AGTAAA"
     polyA_site      2646
                     /gene="PLN"
                     /gene_synonym="CMD1P; CMH18; PLB"
     regulatory      2968..2973
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLN"
                     /gene_synonym="CMD1P; CMH18; PLB"
                     /note="hexamer: AATGAA"
     polyA_site      2989
                     /gene="PLN"
                     /gene_synonym="CMD1P; CMH18; PLB"
ORIGIN      
        1 ataaactggg tgacagagtc agaaaactcc ccagctaaac acccgtaaga cttcatacaa
       61 cacaatactc tatactgtga tgatcacagc tgccaaggct acctaaaaga agacagttat
      121 ctcatatttg gctgccagct ttttatcttt ctctcgacca cttaaaactt cagacttcct
      181 gtcctgctgg tatcatggag aaagtccaat acctcactcg ctcagctata agaagagcct
      241 caaccattga aatgcctcaa caagcacgtc aaaagctaca gaatctattt atcaatttct
      301 gtctcatctt aatatgtctc ttgctgatct gtatcatcgt gatgcttctc tgaagttctg
      361 ctacaacctc tagatctgca gcttgccaca tcagcttaaa atctgtcatc ccatgcagac
      421 aggaaaacaa tattgtataa cagaccactt cctgagtaga agagtttctt tgtgaaaagg
      481 tcaagattaa gactaaaact tattgttacc atatgtattc atctgttgga tcttgtaaac
      541 atgaaaaggg ctttattttc aaaaattaac ttcaaaataa gtgtataaaa tgcaactgtt
      601 gatttcctca acatggctca caaatttcta tcccaaatct tttctgaaga tgaagagttt
      661 agttttaaaa ctgcactgcc aacaagttca cttcatatat aaagcattat ttttactctt
      721 ttgaggtgaa tataatttat attacaatgt aaaagcttct ttaatactaa gtatttttca
      781 ggtcttcacc aagtatcaaa gtaataacac aaatgaagtg tcattattca aaatagtcca
      841 ctgactcctc acatctgtta tcttattata aagaactatt tgtagtaact atcagaatct
      901 acattctaaa acagaaattg tattttttct atgccacatt aacatctttt aaagttgatg
      961 agaatcaagt atggaaaagt aaggccatac tcttacataa taaaattcct tttaagtaat
     1021 tttttcaaag aatcacagaa ttctagtaca tgtaggtaaa tcataaatct gttctaagac
     1081 atatgatcaa cagatgagaa ctggtggtta atatgtgaca gtgagattag tcatatcact
     1141 aatatactaa caacagaatc taatcttcat ttaaggcact gtagtgaatt atctgagcta
     1201 gagttaccta gcttaccata ctatatcttt ggaatcatga aaccttaaga cttcagaatg
     1261 attttgcagg ttgtcttcca ttccagccta acatccaatg caggcaagga aaataaaaga
     1321 tttccagtga cagaaaaata tattatctca agtatttttt aaaaatatat gaattctctc
     1381 tccaaatatt aactaattat tagattatat tttgaaatga acttgttggc ccatctatta
     1441 catctacagc tgacccttga acatgggggt taggggagct gacaattcgt gggtccgcaa
     1501 aatcttaact acctaatagc ctactattga ccataaacct tactgataac ataaacagta
     1561 aattaacaca tattttgcgt gttatatgta ttatacacta tattcctaca ataaagtaag
     1621 ctagagaaaa tgttatttag aaaatcataa gaaagagaaa atatatttac tattcattaa
     1681 atggaagtgg gtcaacataa aagtcttcat tctcattgtc ttcacattga gtaggcagag
     1741 gaggagaaag atggggagga agagaaggcg ttggtcttgc agtcttgtct taggggtgtg
     1801 gggagtgggg gaaagaatat tcatgtataa gtggaccctt gcaattcaag cccttgttgt
     1861 tcaagggtca actgtaatag gatatagcta tttttcttcc tctatcaacc aaatggtaag
     1921 catctatttt gcagtccact ctactgagct aaattataga tccagctatg ctatttataa
     1981 ttattttctt gatgaataaa ttttcaattt ctcctctgac catttcagaa catcttccaa
     2041 taactcataa aacaactgaa gtaaaattga gtgctggaaa atatattcac caaactttgg
     2101 taatttaagt tgactaaagt ttaaaattaa gtctaaaata gtttacacct atactgcata
     2161 atccaacaat tttaatttca gttgaagaca tgttactaat ataactatta ttaaaagagt
     2221 agaggatgtg taattaacca tatcttctaa aacatggtta ctaaaagaat atgtaacatc
     2281 aatattgacc ttggtttctt acacaagtgt tgctaactca atagtgaagg agacactatt
     2341 aaattttctg aacccatgag agatactaga gatggggagt ggaaagtgtt tggttcaggg
     2401 atatctgaag aacagaaggg cagagatttc ttaagtgacg cctcatctac aagctggaaa
     2461 ttcctaaaaa caagtagaaa gcttataaac aacaggtgat acactcacct cactggtttt
     2521 agtaaattac caatacagaa agtatcccta gtcttaaaaa caagtggaaa atttgaactg
     2581 attagtcata ttcctttgat tacactgttt gttacaatat ttttctcagt aaacagaaat
     2641 aactaatttt tttgttcttc attctttgat agaaattaaa atcttattct gtgaggatta
     2701 cagaatacta taactcaaat tataaagtag aataaactct ttaaataatt attcttcatc
     2761 ataaagtgta aagaataaga tataagaaaa caatttattt ttaaaattta atatactaaa
     2821 tgctcaaata tgttctacta tagaataagt tcttatctta atttacaggg cactaaaaac
     2881 aattttaaaa tgcttaatgt tgccttttat attttaattg gttaagaata tatatttgtt
     2941 taatgcaaat cagaatcact atattaaaat gaatgttctt gaaaactca
//
