LOCUS       NM_145046               1263 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens calreticulin 3 (CALR3), mRNA.
ACCESSION   NM_145046
VERSION     NM_145046.5
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 1263)
  AUTHORS   Verhagen,J.M.A., Veldman,J.H., van der Zwaag,P.A., von der
            Thusen,J.H., Brosens,E., Christiaans,I., Dooijes,D., Helderman-van
            den Enden,A.T.J.M., Lekanne Deprez,R.H., Michels,M., van Mil,A.M.,
            Oldenburg,R.A., van der Smagt,J.J., van den Wijngaard,A.,
            Wessels,M.W., Hofstra,R.M.W., van Slegtenhorst,M.A.,
            Jongbloed,J.D.H. and van de Laar,I.M.B.H.
  TITLE     Lack of evidence for a causal role of CALR3 in monogenic
            cardiomyopathy
  JOURNAL   Eur J Hum Genet 26 (11), 1603-1610 (2018)
   PUBMED   29988065
  REMARK    GeneRIF: CALR3 variant is not associated with cardiomyopathy in
            Dutch cohort.  In three families, CALR3 mutation did not segregate
            with cardiomyopathy.
REFERENCE   2  (bases 1 to 1263)
  AUTHORS   Maheswaran,E., Pedersen,C.B., Ditzel,H.J. and Gjerstorff,M.F.
  TITLE     Lack of ADAM2, CALR3 and SAGE1 Cancer/Testis Antigen Expression in
            Lung and Breast Cancer
  JOURNAL   PLoS One 10 (8), e0134967 (2015)
   PUBMED   26252478
  REMARK    GeneRIF: ADAM2, CALR3 and SAGE1 cancer/testis antigens are not
            promising targets for immunotherapy of breast and lung cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1263)
  AUTHORS   Nalls,M.A., Couper,D.J., Tanaka,T., van Rooij,F.J., Chen,M.H.,
            Smith,A.V., Toniolo,D., Zakai,N.A., Yang,Q., Greinacher,A.,
            Wood,A.R., Garcia,M., Gasparini,P., Liu,Y., Lumley,T., Folsom,A.R.,
            Reiner,A.P., Gieger,C., Lagou,V., Felix,J.F., Volzke,H.,
            Gouskova,N.A., Biffi,A., Doring,A., Volker,U., Chong,S.,
            Wiggins,K.L., Rendon,A., Dehghan,A., Moore,M., Taylor,K.,
            Wilson,J.G., Lettre,G., Hofman,A., Bis,J.C., Pirastu,N., Fox,C.S.,
            Meisinger,C., Sambrook,J., Arepalli,S., Nauck,M., Prokisch,H.,
            Stephens,J., Glazer,N.L., Cupples,L.A., Okada,Y., Takahashi,A.,
            Kamatani,Y., Matsuda,K., Tsunoda,T., Tanaka,T., Kubo,M.,
            Nakamura,Y., Yamamoto,K., Kamatani,N., Stumvoll,M., Tonjes,A.,
            Prokopenko,I., Illig,T., Patel,K.V., Garner,S.F., Kuhnel,B.,
            Mangino,M., Oostra,B.A., Thein,S.L., Coresh,J., Wichmann,H.E.,
            Menzel,S., Lin,J., Pistis,G., Uitterlinden,A.G., Spector,T.D.,
            Teumer,A., Eiriksdottir,G., Gudnason,V., Bandinelli,S.,
            Frayling,T.M., Chakravarti,A., van Duijn,C.M., Melzer,D.,
            Ouwehand,W.H., Levy,D., Boerwinkle,E., Singleton,A.B.,
            Hernandez,D.G., Longo,D.L., Soranzo,N., Witteman,J.C., Psaty,B.M.,
            Ferrucci,L., Harris,T.B., O'Donnell,C.J. and Ganesh,S.K.
  TITLE     Multiple loci are associated with white blood cell phenotypes
  JOURNAL   PLoS Genet 7 (6), e1002113 (2011)
   PUBMED   21738480
REFERENCE   4  (bases 1 to 1263)
  AUTHORS   Nomura,R., Orii,M. and Senda,T.
  TITLE     Calreticulin-2 is localized in the lumen of the endoplasmic
            reticulum but is not a Ca2+ -binding protein
  JOURNAL   Histochem Cell Biol 135 (6), 531-538 (2011)
   PUBMED   21590275
  REMARK    GeneRIF: Calreticulin-2 is localized in the lumen of the
            endoplasmic reticulum but is not a Ca2+ -binding protein.
REFERENCE   5  (bases 1 to 1263)
  AUTHORS   Hayashi,E., Matsuzaki,Y., Hasegawa,G., Yaguchi,T., Kurihara,S.,
            Fujita,T., Kageshita,T., Sano,M. and Kawakami,Y.
  TITLE     Identification of a novel cancer-testis antigen CRT2 frequently
            expressed in various cancers using representational differential
            analysis
  JOURNAL   Clin Cancer Res 13 (21), 6267-6274 (2007)
   PUBMED   17975137
  REMARK    GeneRIF: CRT2 is a novel cancer-testis antigen frequently expressed
            in various cancers
REFERENCE   6  (bases 1 to 1263)
  AUTHORS   Persson,S., Rosenquist,M. and Sommarin,M.
  TITLE     Identification of a novel calreticulin isoform (Crt2) in human and
            mouse
  JOURNAL   Gene 297 (1-2), 151-158 (2002)
   PUBMED   12384296
REFERENCE   7  (bases 1 to 1263)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB459545.1, AB576176.1,
            BP370084.1, AA910019.1 and AA724299.1.
            
            On Oct 2, 2019 this sequence version replaced NM_145046.4.
            
            Summary: The protein encoded by this gene belongs to the
            calreticulin family, members of which are calcium-binding
            chaperones localized mainly in the endoplasmic reticulum. This
            protein is also localized to the endoplasmic reticulum lumen,
            however, its capacity for calcium-binding may be absent or much
            lower than other family members. This gene is specifically
            expressed in the testis, and may be required for sperm fertility.
            Mutation in this gene has been associated with familial
            hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011].
            
            ##Evidence-Data-START##
            Transcript exon combination :: HM005344.1, BC014595.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000269881.8/ ENSP00000269881.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                DB459545.1         28-65
            39-418              AB576176.1         1-380
            419-419             BP370084.1         424-424
            420-1009            AB576176.1         382-971
            1010-1010           AA910019.1         257-257             c
            1011-1193           AB576176.1         973-1155
            1194-1263           AA724299.1         8-77                c
FEATURES             Location/Qualifiers
     source          1..1263
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..1263
                     /gene="CALR3"
                     /gene_synonym="CMH19; CRT2; CT93"
                     /note="calreticulin 3"
                     /db_xref="GeneID:125972"
                     /db_xref="HGNC:HGNC:20407"
                     /db_xref="MIM:611414"
     exon            1..129
                     /gene="CALR3"
                     /gene_synonym="CMH19; CRT2; CT93"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..1193
                     /gene="CALR3"
                     /gene_synonym="CMH19; CRT2; CT93"
                     /note="cancer/testis antigen 93; calreticulin-2;
                     calsperin; testis secretory sperm-binding protein Li 226n"
                     /codon_start=1
                     /product="calreticulin-3 precursor"
                     /protein_id="NP_659483.2"
                     /db_xref="CCDS:CCDS12344.1"
                     /db_xref="GeneID:125972"
                     /db_xref="HGNC:HGNC:20407"
                     /db_xref="MIM:611414"
                     /translation="MARALVQLWAICMLRVALATVYFQEEFLDGEHWRNRWLQSTNDS
                     RFGHFRLSSGKFYGHKEKDKGLQTTQNGRFYAISARFKPFSNKGKTLVIQYTVKHEQK
                     MDCGGGYIKVFPADIDQKNLNGKSQYYIMFGPDICGFDIKKVHVILHFKNKYHENKKL
                     IRCKVDGFTHLYTLILRPDLSYDVKIDGQSIESGSIEYDWNLTSLKKETSPAESKDWE
                     QTKDNKAQDWEKHFLDASTSKQSDWNGDLDGDWPAPMLQKPPYQDGLKPEGIHKDVWL
                     HRKMKNTDYLTQYDLSEFENIGAIGLELWQVRSGTIFDNFLITDDEEYADNFGKATWG
                     ETKGPEREMDAIQAKEEMKKAREEEEEELLSGKINRHEHYFNQFHRRNEL"
     exon            130..231
                     /gene="CALR3"
                     /gene_synonym="CMH19; CRT2; CT93"
                     /inference="alignment:Splign:2.1.0"
     exon            232..435
                     /gene="CALR3"
                     /gene_synonym="CMH19; CRT2; CT93"
                     /inference="alignment:Splign:2.1.0"
     exon            436..530
                     /gene="CALR3"
                     /gene_synonym="CMH19; CRT2; CT93"
                     /inference="alignment:Splign:2.1.0"
     exon            531..716
                     /gene="CALR3"
                     /gene_synonym="CMH19; CRT2; CT93"
                     /inference="alignment:Splign:2.1.0"
     exon            717..824
                     /gene="CALR3"
                     /gene_synonym="CMH19; CRT2; CT93"
                     /inference="alignment:Splign:2.1.0"
     exon            825..956
                     /gene="CALR3"
                     /gene_synonym="CMH19; CRT2; CT93"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1049
                     /gene="CALR3"
                     /gene_synonym="CMH19; CRT2; CT93"
                     /inference="alignment:Splign:2.1.0"
     exon            1050..1263
                     /gene="CALR3"
                     /gene_synonym="CMH19; CRT2; CT93"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1244
                     /gene="CALR3"
                     /gene_synonym="CMH19; CRT2; CT93"
                     /note="major polyA site"
     polyA_site      1263
                     /gene="CALR3"
                     /gene_synonym="CMH19; CRT2; CT93"
                     /note="major polyA site"
ORIGIN      
        1 aaggggtggc ggcgaccgga agcgcagtgc acacccccat ggcccgggct ttggtccagc
       61 tctgggccat atgcatgctg cgagtggcgc tggctaccgt ctatttccaa gaggaatttc
      121 tagacggaga gcattggaga aaccgatggt tgcagtccac caatgactcc cgatttgggc
      181 attttagact ttcgtcgggc aagttttatg gtcataaaga gaaagataaa ggtctgcaaa
      241 ccactcagaa tggccgattc tatgccatct ctgcacgctt caaaccgttc agcaataaag
      301 ggaaaactct ggttattcag tacacagtaa aacatgagca gaagatggac tgtggagggg
      361 gctacattaa ggtctttcct gcagacattg accagaagaa cctgaatgga aaatcgcagt
      421 actatattat gtttggaccc gatatttgtg gatttgatat caagaaagtt catgttattt
      481 tacatttcaa gaataagtat cacgaaaaca agaaactgat caggtgtaag gttgatggct
      541 tcacacacct gtacactcta attttaagac cagatctttc ttatgatgtg aaaattgatg
      601 gtcagtcaat tgaatccggc agcatagagt acgactggaa cttaacatca ctcaagaagg
      661 aaacgtcccc ggcagaatcg aaggattggg aacagactaa agacaacaaa gcccaggact
      721 gggagaagca ttttctggac gccagcacca gcaagcagag cgactggaac ggtgacctgg
      781 atggggactg gccagcgccg atgctccaga agcccccgta ccaggatggc ctgaaaccag
      841 aaggtattca taaagacgtc tggctccacc gtaagatgaa gaataccgac tatttgacgc
      901 agtatgacct ctcagaattt gagaacattg gtgccattgg cctggagctt tggcaggtga
      961 gatctggaac catttttgat aactttctga tcacagatga tgaagagtac gcagataatt
     1021 ttggcaaggc cacctggggc gaaaccaagg gtccagaaag ggagatggat gccatacagg
     1081 ccaaggagga aatgaagaag gcccgcgagg aagaggagga agagctgctg tcgggaaaaa
     1141 ttaacaggca cgaacattac ttcaatcaat ttcacagaag gaatgaactt tagtgatccc
     1201 cattggatat aaggatgact ggtaaaatct cattgctact ttaatctatg tttcaaactc
     1261 aaa
//
