LOCUS       NM_001098814            4214 bp    mRNA    linear   PRI 23-DEC-2024
DEFINITION  Homo sapiens sarcalumenin (SRL), transcript variant 1, mRNA.
ACCESSION   NM_001098814 XM_064152 XM_942054
VERSION     NM_001098814.2
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 4214)
  AUTHORS   Conte,E., Dinoi,G., Imbrici,P., De Luca,A. and Liantonio,A.
  TITLE     Sarcoplasmic Reticulum Ca2+ Buffer Proteins: A Focus on the
            Yet-To-Be-Explored Role of Sarcalumenin in Skeletal Muscle Health
            and Disease
  JOURNAL   Cells 12 (5), 715 (2023)
   PUBMED   36899851
  REMARK    GeneRIF: Sarcoplasmic Reticulum Ca[2+] Buffer Proteins: A Focus on
            the Yet-To-Be-Explored Role of Sarcalumenin in Skeletal Muscle
            Health and Disease.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4214)
  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 4214)
  AUTHORS   Arking,D.E., Pulit,S.L., Crotti,L., van der Harst,P., Munroe,P.B.,
            Koopmann,T.T., Sotoodehnia,N., Rossin,E.J., Morley,M., Wang,X.,
            Johnson,A.D., Lundby,A., Gudbjartsson,D.F., Noseworthy,P.A.,
            Eijgelsheim,M., Bradford,Y., Tarasov,K.V., Dorr,M.,
            Muller-Nurasyid,M., Lahtinen,A.M., Nolte,I.M., Smith,A.V.,
            Bis,J.C., Isaacs,A., Newhouse,S.J., Evans,D.S., Post,W.S.,
            Waggott,D., Lyytikainen,L.P., Hicks,A.A., Eisele,L., Ellinghaus,D.,
            Hayward,C., Navarro,P., Ulivi,S., Tanaka,T., Tester,D.J.,
            Chatel,S., Gustafsson,S., Kumari,M., Morris,R.W., Naluai,A.T.,
            Padmanabhan,S., Kluttig,A., Strohmer,B., Panayiotou,A.G.,
            Torres,M., Knoflach,M., Hubacek,J.A., Slowikowski,K.,
            Raychaudhuri,S., Kumar,R.D., Harris,T.B., Launer,L.J.,
            Shuldiner,A.R., Alonso,A., Bader,J.S., Ehret,G., Huang,H.,
            Kao,W.H., Strait,J.B., Macfarlane,P.W., Brown,M., Caulfield,M.J.,
            Samani,N.J., Kronenberg,F., Willeit,J., Smith,J.G., Greiser,K.H.,
            Meyer Zu Schwabedissen,H., Werdan,K., Carella,M., Zelante,L.,
            Heckbert,S.R., Psaty,B.M., Rotter,J.I., Kolcic,I., Polasek,O.,
            Wright,A.F., Griffin,M., Daly,M.J., Arnar,D.O., Holm,H.,
            Thorsteinsdottir,U., Denny,J.C., Roden,D.M., Zuvich,R.L.,
            Emilsson,V., Plump,A.S., Larson,M.G., O'Donnell,C.J., Yin,X.,
            Bobbo,M., D'Adamo,A.P., Iorio,A., Sinagra,G., Carracedo,A.,
            Cummings,S.R., Nalls,M.A., Jula,A., Kontula,K.K., Marjamaa,A.,
            Oikarinen,L., Perola,M., Porthan,K., Erbel,R., Hoffmann,P.,
            Jockel,K.H., Kalsch,H., Nothen,M.M., den Hoed,M., Loos,R.J.,
            Thelle,D.S., Gieger,C., Meitinger,T., Perz,S., Peters,A.,
            Prucha,H., Sinner,M.F., Waldenberger,M., de Boer,R.A., Franke,L.,
            van der Vleuten,P.A., Beckmann,B.M., Martens,E., Bardai,A.,
            Hofman,N., Wilde,A.A., Behr,E.R., Dalageorgou,C., Giudicessi,J.R.,
            Medeiros-Domingo,A., Barc,J., Kyndt,F., Probst,V., Ghidoni,A.,
            Insolia,R., Hamilton,R.M., Scherer,S.W., Brandimarto,J.,
            Margulies,K., Moravec,C.E., del Greco,M. F, Fuchsberger,C.,
            O'Connell,J.R., Lee,W.K., Watt,G.C., Campbell,H., Wild,S.H., El
            Mokhtari,N.E., Frey,N., Asselbergs,F.W., Mateo Leach,I., Navis,G.,
            van den Berg,M.P., van Veldhuisen,D.J., Kellis,M., Krijthe,B.P.,
            Franco,O.H., Hofman,A., Kors,J.A., Uitterlinden,A.G.,
            Witteman,J.C., Kedenko,L., Lamina,C., Oostra,B.A., Abecasis,G.R.,
            Lakatta,E.G., Mulas,A., Orru,M., Schlessinger,D., Uda,M.,
            Markus,M.R., Volker,U., Snieder,H., Spector,T.D., Arnlov,J.,
            Lind,L., Sundstrom,J., Syvanen,A.C., Kivimaki,M., Kahonen,M.,
            Mononen,N., Raitakari,O.T., Viikari,J.S., Adamkova,V., Kiechl,S.,
            Brion,M., Nicolaides,A.N., Paulweber,B., Haerting,J.,
            Dominiczak,A.F., Nyberg,F., Whincup,P.H., Hingorani,A.D.,
            Schott,J.J., Bezzina,C.R., Ingelsson,E., Ferrucci,L., Gasparini,P.,
            Wilson,J.F., Rudan,I., Franke,A., Muhleisen,T.W., Pramstaller,P.P.,
            Lehtimaki,T.J., Paterson,A.D., Parsa,A., Liu,Y., van Duijn,C.M.,
            Siscovick,D.S., Gudnason,V., Jamshidi,Y., Salomaa,V., Felix,S.B.,
            Sanna,S., Ritchie,M.D., Stricker,B.H., Stefansson,K., Boyer,L.A.,
            Cappola,T.P., Olsen,J.V., Lage,K., Schwartz,P.J., Kaab,S.,
            Chakravarti,A., Ackerman,M.J., Pfeufer,A., de Bakker,P.I. and
            Newton-Cheh,C.
  CONSRTM   CARe Consortium; COGENT Consortium; DCCT/EDIC; eMERGE Consortium;
            HRGEN Consortium
  TITLE     Genetic association study of QT interval highlights role for
            calcium signaling pathways in myocardial repolarization
  JOURNAL   Nat Genet 46 (8), 826-836 (2014)
   PUBMED   24952745
REFERENCE   4  (bases 1 to 4214)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   5  (bases 1 to 4214)
  AUTHORS   Lanfranchi,G., Muraro,T., Caldara,F., Pacchioni,B., Pallavicini,A.,
            Pandolfo,D., Toppo,S., Trevisan,S., Scarso,S. and Valle,G.
  TITLE     Identification of 4370 expressed sequence tags from a
            3'-end-specific cDNA library of human skeletal muscle by DNA
            sequencing and filter hybridization
  JOURNAL   Genome Res 6 (1), 35-42 (1996)
   PUBMED   8681137
REFERENCE   6  (bases 1 to 4214)
  AUTHORS   Leberer,E., Charuk,J.H., Green,N.M. and MacLennan,D.H.
  TITLE     Molecular cloning and expression of cDNA encoding a lumenal calcium
            binding glycoprotein from sarcoplasmic reticulum
  JOURNAL   Proc Natl Acad Sci U S A 86 (16), 6047-6051 (1989)
   PUBMED   2762314
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB149163.1, AL831973.2, AK056588.1, AL832361.1, DA563862.1 and
            F26773.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001098814.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK056588.1, SRR1803614.58257.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000399609.7/ ENSP00000382518.3
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                DB149163.1         1-28
            29-459              AL831973.2         1-431
            460-483             AK056588.1         460-483
            484-566             DB149163.1         484-566
            567-1259            AL831973.2         539-1231
            1260-1573           AL832361.1         2632-2945
            1574-2487           AL831973.2         1547-2460
            2488-2681           AL832361.1         3860-4053
            2682-2936           DA563862.1         307-561
            2937-3092           AL831973.2         2910-3065
            3093-3762           AK056588.1         1437-2106
            3763-4211           AL831973.2         3736-4184
            4212-4214           F26773.1           322-324
FEATURES             Location/Qualifiers
     source          1..4214
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..4214
                     /gene="SRL"
                     /gene_synonym="SAR"
                     /note="sarcalumenin"
                     /db_xref="GeneID:6345"
                     /db_xref="HGNC:HGNC:11295"
                     /db_xref="MIM:604992"
     exon            1..74
                     /gene="SRL"
                     /gene_synonym="SAR"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..1435
                     /gene="SRL"
                     /gene_synonym="SAR"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /codon_start=1
                     /product="sarcalumenin isoform 1 precursor"
                     /protein_id="NP_001092284.1"
                     /db_xref="CCDS:CCDS42113.1"
                     /db_xref="GeneID:6345"
                     /db_xref="HGNC:HGNC:11295"
                     /db_xref="MIM:604992"
                     /translation="MRALVLLGCLLASLLFSGQAEETEDANEEAPLRDRSHIEKTLML
                     NEDKPSDDYSAVLQRLRKIYHSSIKPLEQSYKYNELRQHEITDGEITSKPMVLFLGPW
                     SVGKSTMINYLLGLENTRYQLYTGAEPTTSEFTVLMHGPKLKTIEGIVMAADSARSFS
                     PLEKFGQNFLEKLIGIEVPHKLLERVTFVDTPGIIENRKQQERGYPFNDVCQWFIDRA
                     DLIFVVFDPTKLDVGLELEMLFRQLKGRESQIRIILNKADNLATQMLMRVYGALFWSL
                     APLINVTEPPRVYVSSFWPQEYKPDTHQELFLQEEISLLEDLNQVIENRLENKIAFIR
                     QHAIRVRIHALLVDRYLQTYKDKMTFFSDGELVFKDIVEDPDKFYIFKTILAKTNVSK
                     FDLPNREAYKDFFGINPISSFKLLSQQCSYMGGCFLEKIERAITQELPGLLGSLGLGK
                     NPGALNCDKTGCSETPKNRYRKH"
     exon            75..176
                     /gene="SRL"
                     /gene_synonym="SAR"
                     /inference="alignment:Splign:2.1.0"
     exon            177..272
                     /gene="SRL"
                     /gene_synonym="SAR"
                     /inference="alignment:Splign:2.1.0"
     exon            273..389
                     /gene="SRL"
                     /gene_synonym="SAR"
                     /inference="alignment:Splign:2.1.0"
     exon            390..623
                     /gene="SRL"
                     /gene_synonym="SAR"
                     /inference="alignment:Splign:2.1.0"
     exon            624..4214
                     /gene="SRL"
                     /gene_synonym="SAR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4191..4196
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRL"
                     /gene_synonym="SAR"
                     /note="hexamer: AATAAA"
     polyA_site      4214
                     /gene="SRL"
                     /gene_synonym="SAR"
                     /note="major polyA site"
ORIGIN      
        1 cttggcagtc accatgaggg cgctggtcct gctcggctgc ctcctggcct cgctcctgtt
       61 ctcaggacaa gcagaagaga cggaggatgc aaatgaagaa gccccattga gggaccgctc
      121 ccacatcgag aagaccctca tgctgaatga ggacaagcca tccgatgact actctgcggt
      181 gctgcagcgg cttcggaaga tctaccactc atccatcaag cctctggagc agtcctacaa
      241 gtacaatgag ctccggcagc atgagatcac agatggagag attacctcca agcccatggt
      301 actgttcctg ggaccgtgga gtgttggtaa atctaccatg ataaactacc tccttgggct
      361 ggaaaatact cgctatcagc tctatacagg cgctgaaccc accacctctg agttcacggt
      421 cctcatgcat gggcctaagc tgaaaaccat cgagggcatc gtcatggctg ctgacagcgc
      481 ccgttccttc tcaccccttg agaagtttgg ccagaatttc ctagagaagc tgattggcat
      541 tgaggttccc cacaaacttc tggagagggt cacttttgtg gatacaccag gcatcatcga
      601 gaaccgcaag cagcaagaaa gaggctaccc cttcaacgac gtgtgccagt ggttcatcga
      661 cagagctgac ctcatctttg tcgtctttga cccaacaaag ctggatgtgg gtctagagct
      721 ggagatgctc ttccgccagt tgaaggggcg tgaatcccag ataaggatca tcctgaacaa
      781 ggctgacaat ctggccaccc aaatgctcat gcgggtttac ggggccctct tctggagctt
      841 ggcccctctc atcaatgtca cagagccccc aagggtttac gtcagctcct tctggccaca
      901 agagtataag ccggacaccc atcaggaact gttcctccaa gaagagatct ccctcctaga
      961 agacctgaat caggtgatcg agaacagact ggagaacaag attgccttca tccgccagca
     1021 cgccatccgg gtccgcatcc acgccctcct ggttgaccgc tacctgcaga cttacaagga
     1081 caaaatgacc ttcttcagtg atggagaact ggtctttaag gacattgtgg aagatcccga
     1141 taaattctac atcttcaaga ccatcctggc aaagaccaat gtcagcaaat ttgaccttcc
     1201 caaccgcgag gcctataagg acttcttcgg catcaatccc atttccagtt tcaaactgct
     1261 ctcccagcag tgctcctaca tgggaggttg ctttctggag aagattgagc gggccatcac
     1321 tcaggagctt ccgggcctcc tgggtagcct cgggctcggg aagaatccag gtgctctcaa
     1381 ctgtgacaaa acagggtgta gcgaaacacc aaaaaatcgc tacaggaagc actaggtggt
     1441 ggagcggtcc ttgggttcct gttggtgaat cagcttgtgt cctaactgtc tgagaggtcc
     1501 tggtttatta accctttgag ccacactggc aggaattatt acacagtgga gagttgggag
     1561 ttcattgagg ccaggggtcg gggcaggtgt gtgggtctag ggaggagagt ggaaactgtg
     1621 aattcctgtg tgcttgtctt gttgcttcaa tgaggaggcc tgattgaggc aagtcagcct
     1681 ccacctgctt ttcctgggtc ctgtcttgga aggacagaga gcagctaaat tctagtgtat
     1741 cttaaatcag tgagggtcaa ataagctaaa agcagctgaa attcctttgt tccctgtgag
     1801 ctgggaaaac agcgaaggcc tgagtcgtag agattgtcag gtccattttg gcttctttcc
     1861 acacccacag tctcgcgttt gttccccagc cctcggctgc ctcttaactt tgggttgact
     1921 ttcaacagtg aatagtctct tgggtctgaa tatacctggg tttgtttttg tgtttttgag
     1981 acggagtctc gctctgtcgg ccaggttgga gtgcagtggt gcaatctcag ctcactgcaa
     2041 cctccccctc ctgggttcaa gcgattctcc tgcctcagcc tcctgagtag ctgagattat
     2101 aggcctacca ccatgcccag ccaatttttg tatttttagt agaaacggga cttcaccatg
     2161 ttgcccaggc tggcctcgaa ctcctgacct caagtgatcc acccgcctcg gcctcccaaa
     2221 gtgctgggat tacaggcatg agctgccgca cccggcctcc acctgggttt tgagccaatc
     2281 ccccggactt gctcctggtt tcctcaaggg gtggggcagt ggtttaggac actcgacaac
     2341 taagaacagg agttcccagg aaggacaagg atctgcctcc cccactgcca cttctctgat
     2401 gtgttcctca aagctggctc gagggctcga tcccttcatc ggacccagga ggggactggt
     2461 tggtgtatcc aggtaattta ctcttggaag tgactgtagt gaaggtcgtg gaagggctca
     2521 gagggttaat tggtttgcag tgcgtctttg tctattgcat gtcttggaaa actcagatcc
     2581 caaaggcgct gggtttcaga gaggacagtg gagaccttgc tccttttcct taggccgcca
     2641 gtctctcaaa tttcagagga ggctgtttcc acaactcccc tgtggaaaca cttggcagcg
     2701 gagttgctcc tttgcagttt ccacaccatg gcttttcctt tcctttcttc tccattccct
     2761 gatgcatcaa cacttacttg gagcaatttc ctaggagtca gaaccagcac cagccactcg
     2821 gtgtcggtgg ccaccaaggc ttaacattga ccttcccgcc tgaccttgat gcagatgtcc
     2881 actgaacaca ccgcaggaaa gccagggcct tcaataccaa taagtgtgaa tatgtgtgta
     2941 tgttgtccaa gagagattag ggagatcaca tagactctag ggagtagaga acttgtaaca
     3001 gtcttgcaag gctagcatgc acggctccac agcaggtggt ggggagcaga ggggcaggac
     3061 ctgcagggaa gaagcagcct ttggatggtg aaatgtgcat ggtgcacagt ctgtgcatgc
     3121 ccaggagacc cagcccgggc tgcctcgagg ggctcctttg tacacagcca gccgcttctc
     3181 ttgggaacaa gctgtcctgg gggccttacc cacgaggcag gagtcaggat gcaccagctc
     3241 agcaccagga agtcatcctg gacccaggac agtggaaagg caggcagagg gagaggcact
     3301 ctgaggtcag gcagggtaag ccagttggca gtcaggttag gtctatgagg agaacctcga
     3361 gttaggaatt cccggttctc agaattgtta tcactctggt gcatgctgtc acaggggccg
     3421 ttgcgtttgg ctttgtggag ggcctggacc cttccacaag aacacccgag gttccagggc
     3481 actcaggaca atgtttccaa ggaacgagtc gaccaggaaa gaacagtgag ttctgcaagg
     3541 ggcatccacg gagcctgtga taggggctga tgagatggaa tctgtcctgg acttttcttc
     3601 tcattaacca ccctccgcaa accccagaac ccctcgcctc atctctgtac tgtctgccct
     3661 cttgggggat gggccctccc actttcccct gcctgctcct ccatgctgtg agctgctttg
     3721 gcagatctgt ttttctgtgt agtcagggga aaaacaaaaa aagatgcaca actgtgtggg
     3781 cattgtcata gctgttggtg tcaccactgc tttgggggaa atggctggga tgaggctaat
     3841 acattcatgc aatatttata ttttcagggg gctgcgttat cagcatgctc tccctgcctt
     3901 gggcttttct ttccgtcatg ttttcctttt cgtgttcctt ctctgatttc tcttgtctct
     3961 gctgctcaca ggcctgccca tcagtcagta cagatactca gtgtctggtt tctggccagc
     4021 tccgtggagg gggctttaag cagaattctg actctttggg gtgggggatt aggaactggg
     4081 ggaaacttaa tgatccagag attcccccaa gaggagtgtc tggaaggatc tgtgcctgga
     4141 cagtggcaga acctttccag tgttcttttg gttctgattt catcagtctc aataaagttc
     4201 cgatctctct ttaa
//
