LOCUS       NM_002152               2357 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens histidine rich calcium binding protein (HRC), mRNA.
ACCESSION   NM_002152
VERSION     NM_002152.3
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 2357)
  AUTHORS   van der Voorn,S.M., van Drie,E., Proost,V., Dimitrova,K.,
            Netherlands Acm/Pln,Registry., Ernst,R.F., James,C.A., Tichnell,C.,
            Murray,B., Calkins,H., Saguner,A.M., Duru,F., Ellinor,P.T.,
            Bezzina,C.R., Jurgens,S.J., van Tintelen,J.P. and van Veen,T.A.B.
  TITLE     Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in
            Histidine-Rich Calcium Binding Protein as a Secondary Hit in
            Cardiomyopathies
  JOURNAL   Int J Mol Sci 24 (21), 15931 (2023)
   PUBMED   37958923
  REMARK    GeneRIF: Lack of Evidence for the Role of the p.(Ser96Ala)
            Polymorphism in Histidine-Rich Calcium Binding Protein as a
            Secondary Hit in Cardiomyopathies.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2357)
  AUTHORS   Xia,S., Wu,J., Zhou,W., Zhang,M., Zhao,K., Tian,D., Liu,J. and
            Liao,J.
  TITLE     HRC promotes anoikis resistance and metastasis by suppressing
            endoplasmic reticulum stress in hepatocellular carcinoma
  JOURNAL   Int J Med Sci 18 (14), 3112-3124 (2021)
   PUBMED   34400882
  REMARK    GeneRIF: HRC promotes anoikis resistance and metastasis by
            suppressing endoplasmic reticulum stress in hepatocellular
            carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2357)
  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   4  (bases 1 to 2357)
  AUTHORS   Amioka,M., Nakano,Y., Ochi,H., Onohara,Y., Sairaku,A., Tokuyama,T.,
            Motoda,C., Matsumura,H., Tomomori,S., Hironobe,N., Okubo,Y.,
            Okamura,S., Chayama,K. and Kihara,Y.
  TITLE     Ser96Ala genetic variant of the human histidine-rich
            calcium-binding protein is a genetic predictor of recurrence after
            catheter ablation in patients with paroxysmal atrial fibrillation
  JOURNAL   PLoS One 14 (3), e0213208 (2019)
   PUBMED   30840693
  REMARK    GeneRIF: Ser96Ala genetic variant of the human histidine-rich
            calcium-binding protein is associated with recurrence in paroxysmal
            atrial fibrillation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2357)
  AUTHORS   Pollak,A.J., Haghighi,K., Kunduri,S., Arvanitis,D.A., Bidwell,P.A.,
            Liu,G.S., Singh,V.P., Gonzalez,D.J., Sanoudou,D., Wiley,S.E.,
            Dixon,J.E. and Kranias,E.G.
  TITLE     Phosphorylation of serine96 of histidine-rich calcium-binding
            protein by the Fam20C kinase functions to prevent cardiac
            arrhythmia
  JOURNAL   Proc Natl Acad Sci U S A 114 (34), 9098-9103 (2017)
   PUBMED   28784772
  REMARK    GeneRIF: Histidine-rich Ca-binding protein (HRC) was phosphorylated
            by family with sequence similarity 20C (Fam20C) both in vitro and
            in vivo.
REFERENCE   6  (bases 1 to 2357)
  AUTHORS   Sacchetto,R., Damiani,E., Turcato,F., Nori,A. and Margreth,A.
  TITLE     Ca(2+)-dependent interaction of triadin with histidine-rich
            Ca(2+)-binding protein carboxyl-terminal region
  JOURNAL   Biochem Biophys Res Commun 289 (5), 1125-1134 (2001)
   PUBMED   11741309
REFERENCE   7  (bases 1 to 2357)
  AUTHORS   Lee,H.G., Kang,H., Kim,D.H. and Park,W.J.
  TITLE     Interaction of HRC (histidine-rich Ca(2+)-binding protein) and
            triadin in the lumen of sarcoplasmic reticulum
  JOURNAL   J Biol Chem 276 (43), 39533-39538 (2001)
   PUBMED   11504710
REFERENCE   8  (bases 1 to 2357)
  AUTHORS   Ridgeway,A.G., Petropoulos,H., Siu,A., Ball,J.K. and Skerjanc,I.S.
  TITLE     Cloning, tissue distribution, subcellular localization and
            overexpression of murine histidine-rich Ca2+ binding protein
  JOURNAL   FEBS Lett 456 (3), 399-402 (1999)
   PUBMED   10462052
REFERENCE   9  (bases 1 to 2357)
  AUTHORS   Hofmann,S.L., Topham,M., Hsieh,C.L. and Francke,U.
  TITLE     cDNA and genomic cloning of HRC, a human sarcoplasmic reticulum
            protein, and localization of the gene to human chromosome 19 and
            mouse chromosome 7
  JOURNAL   Genomics 9 (4), 656-669 (1991)
   PUBMED   2037293
REFERENCE   10 (bases 1 to 2357)
  AUTHORS   Hofmann,S.L., Brown,M.S., Lee,E., Pathak,R.K., Anderson,R.G. and
            Goldstein,J.L.
  TITLE     Purification of a sarcoplasmic reticulum protein that binds Ca2+
            and plasma lipoproteins
  JOURNAL   J Biol Chem 264 (14), 8260-8270 (1989)
   PUBMED   2498310
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC094691.1.
            
            On Nov 23, 2018 this sequence version replaced NM_002152.2.
            
            Summary: This gene encodes a luminal sarcoplasmic reticulum protein
            identified by its ability to bind low-density lipoprotein with high
            affinity. The protein interacts with the cytoplasmic domain of
            triadin, the main transmembrane protein of the junctional
            sarcoplasmic reticulum (SR) of skeletal muscle. The protein
            functions in the regulation of releasable calcium into the SR.
            [provided by RefSeq, Sep 2008].
            
            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 :: BC094691.1, M60052.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252825.9/ ENSP00000252825.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2357              BC094691.1         29-2385
FEATURES             Location/Qualifiers
     source          1..2357
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..2357
                     /gene="HRC"
                     /note="histidine rich calcium binding protein"
                     /db_xref="GeneID:3270"
                     /db_xref="HGNC:HGNC:5178"
                     /db_xref="MIM:142705"
     exon            1..1990
                     /gene="HRC"
                     /inference="alignment:Splign:2.1.0"
     CDS             160..2259
                     /gene="HRC"
                     /note="sarcoplasmic reticulum histidine-rich
                     calcium-binding protein"
                     /codon_start=1
                     /product="sarcoplasmic reticulum histidine-rich
                     calcium-binding protein precursor"
                     /protein_id="NP_002143.1"
                     /db_xref="CCDS:CCDS12759.1"
                     /db_xref="GeneID:3270"
                     /db_xref="HGNC:HGNC:5178"
                     /db_xref="MIM:142705"
                     /translation="MGHHRPWLHASVLWAGVASLLLPPAMTQQLRGDGLGFRNRNNST
                     GVAGLSEEASAELRHHLHSPRDHPDENKDVSTENGHHFWSHPDREKEDEDVSKEYGHL
                     LPGHRSQDHKVGDEGVSGEEVFAEHGGQARGHRGHGSEDTEDSAEHRHHLPSHRSHSH
                     QDEDEDEVVSSEHHHHILRHGHRGHDGEDDEGEEEEEEEEEEEEASTEYGHQAHRHRG
                     HGSEEDEDVSDGHHHHGPSHRHQGHEEDDDDDDDDDDDDDDDDVSIEYRHQAHRHQGH
                     GIEEDEDVSDGHHHRDPSHRHRSHEEDDNDDDDVSTEYGHQAHRHQDHRKEEVEAVSG
                     EHHHHVPDHRHQGHRDEEEDEDVSTERWHQGPQHVHHGLVDEEEEEEEITVQFGHYVA
                     SHQPRGHKSDEEDFQDEYKTEVPHHHHHRVPREEDEEVSAELGHQAPSHRQSHQDEET
                     GHGQRGSIKEMSHHPPGHTVVKDRSHLRKDDSEEEKEKEEDPGSHEEDDESSEQGEKG
                     THHGSRDQEDEEDEEEGHGLSLNQEEEEEEDKEEEEEEEDEERREERAEVGAPLSPDH
                     SEEEEEEEEGLEEDEPRFTIIPNPLDRREEAGGASSEEESGEDTGPQDAQEYGNYQPG
                     SLCGYCSFCNRCTECESCHCDEENMGEHCDQCQHCQFCYLCPLVCETVCAPGSYVDYF
                     SSSLYQALADMLETPEP"
     exon            1991..2061
                     /gene="HRC"
                     /inference="alignment:Splign:2.1.0"
     exon            2062..2130
                     /gene="HRC"
                     /inference="alignment:Splign:2.1.0"
     exon            2131..2185
                     /gene="HRC"
                     /inference="alignment:Splign:2.1.0"
     exon            2186..2222
                     /gene="HRC"
                     /inference="alignment:Splign:2.1.0"
     exon            2223..2357
                     /gene="HRC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2338..2343
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HRC"
                     /note="hexamer: AATAAA"
     polyA_site      2357
                     /gene="HRC"
                     /note="major polyA site"
ORIGIN      
        1 agagccaggc agcaaggacc agaggaaggt ggacagagac cgaaaggaca aaggagagac
       61 acagagaaaa aaagagacca accccaaagg gacaaagacc ccaacgtttg tccacattgc
      121 cgcagaggca gctggagcca gtgctgcctg tccgtcccca tgggccacca taggccatgg
      181 ctgcacgctt ctgtcctctg ggctggggtg gccagcctgc tcctcccccc ggccatgacc
      241 cagcagctca gaggggatgg gctaggcttc agaaaccgga acaacagcac tggagtcgcc
      301 gggctctccg aggaggcatc agcagagctt cgccaccacc tccacagccc tagagaccat
      361 ccagatgaga acaaggatgt ttccacagag aatgggcatc atttctggag ccacccagac
      421 cgtgaaaagg aggatgaaga tgtctccaag gaatatgggc acctactccc aggccacagg
      481 tcccaagacc acaaagtcgg agatgagggt gtctcaggtg aggaggtctt tgcagagcat
      541 ggtgggcagg cccgtgggca cagaggccac gggagtgaag acacggaaga ctcagctgag
      601 cacaggcacc acctccccag ccacaggagc cacagccatc aagacgagga tgaggatgaa
      661 gttgtgtcca gtgagcatca ccatcatatc ctcaggcatg gacaccgagg ccatgatggg
      721 gaagatgatg aaggagaaga ggaggaggag gaggaggagg aggaagagga ggcctccact
      781 gagtatggac accaggccca caggcaccga ggccatggga gtgaagagga tgaggatgtc
      841 tcagatggac accatcatca tggccccagc cacaggcacc aaggccatga agaagatgac
      901 gatgatgatg atgatgatga tgatgatgat gatgatgatg atgtctccat tgaatataga
      961 caccaggctc acaggcacca aggccacggg attgaagagg atgaagatgt ctcagatgga
     1021 caccatcatc gcgaccccag ccacaggcac cgaagccatg aagaagatga caatgatgat
     1081 gatgatgtct ccactgagta tggacaccag gcccacaggc accaagacca cagaaaggaa
     1141 gaggttgagg ctgtctcagg tgaacaccac catcatgtcc ctgaccacag gcaccaaggc
     1201 cacagagacg aggaagaaga tgaggatgtg tccactgaac gttggcacca gggtccccaa
     1261 catgtccacc atggccttgt agatgaggaa gaggaagaag aggagatcac agtccagttc
     1321 ggccactatg ttgcaagcca ccaacctcga ggccacaaga gtgatgaaga ggacttccaa
     1381 gatgagtata aaacagaagt ccctcaccat caccaccaca gagtccccag ggaggaagat
     1441 gaggaggtct ctgctgagct tggccaccag gcccccagcc acaggcaaag ccaccaagat
     1501 gaagaaactg gccatggtca aagagggtcc atcaaagaga tgagccatca ccccccagga
     1561 cacacagtgg tcaaggatag aagccatttg aggaaggatg attctgagga ggaaaaggag
     1621 aaggaagagg accccggctc ccatgaggaa gacgatgaaa gttcagagca gggagagaaa
     1681 ggcacccatc atggcagccg ggaccaggaa gatgaggagg atgaggagga aggtcatggc
     1741 ctcagcctga accaggagga ggaagaagag gaagacaagg aggaggagga ggaggaagaa
     1801 gacgaggaga ggagggaaga gagggctgag gttggggccc cactgagccc agaccacagc
     1861 gaggaggaag aggaggagga ggaggggctg gaggaagatg agccccgctt caccatcatc
     1921 cccaacccac tggacaggag agaggaggct ggaggtgcct ccagcgagga ggaaagcggt
     1981 gaggacacag gtccacagga tgctcaggag tatgggaact accagccagg gtccctgtgt
     2041 ggctactgct ccttctgcaa tcgatgcact gaatgtgaga gctgtcactg tgatgaggag
     2101 aacatgggtg agcactgcga ccagtgccag cactgtcagt tctgctatct ctgcccgctg
     2161 gtctgcgaaa cggtctgcgc tccaggaagc tacgttgact atttctcctc gtccctttat
     2221 caggccctgg cagacatgct ggaaacgccg gaaccctgac ccagtcgctc gactgcgacg
     2281 caggtgtacc tccccctgcc ttccaacccc tttccacgag ctatatttat ttctccgaat
     2341 aaacgtgctc cccgaaa
//
