LOCUS       NM_001426592            5139 bp    mRNA    linear   PRI 15-JUN-2024
DEFINITION  Homo sapiens EF-hand calcium binding domain 13 (EFCAB13),
            transcript variant J, mRNA.
ACCESSION   NM_001426592
VERSION     NM_001426592.1
KEYWORDS    RefSeq.
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 5139)
  AUTHORS   Willer,C.J., Schmidt,E.M., Sengupta,S., Peloso,G.M., Gustafsson,S.,
            Kanoni,S., Ganna,A., Chen,J., Buchkovich,M.L., Mora,S.,
            Beckmann,J.S., Bragg-Gresham,J.L., Chang,H.Y., Demirkan,A., Den
            Hertog,H.M., Do,R., Donnelly,L.A., Ehret,G.B., Esko,T.,
            Feitosa,M.F., Ferreira,T., Fischer,K., Fontanillas,P., Fraser,R.M.,
            Freitag,D.F., Gurdasani,D., Heikkila,K., Hypponen,E., Isaacs,A.,
            Jackson,A.U., Johansson,A., Johnson,T., Kaakinen,M., Kettunen,J.,
            Kleber,M.E., Li,X., Luan,J., Lyytikainen,L.P., Magnusson,P.K.E.,
            Mangino,M., Mihailov,E., Montasser,M.E., Muller-Nurasyid,M.,
            Nolte,I.M., O'Connell,J.R., Palmer,C.D., Perola,M., Petersen,A.K.,
            Sanna,S., Saxena,R., Service,S.K., Shah,S., Shungin,D., Sidore,C.,
            Song,C., Strawbridge,R.J., Surakka,I., Tanaka,T., Teslovich,T.M.,
            Thorleifsson,G., Van den Herik,E.G., Voight,B.F., Volcik,K.A.,
            Waite,L.L., Wong,A., Wu,Y., Zhang,W., Absher,D., Asiki,G.,
            Barroso,I., Been,L.F., Bolton,J.L., Bonnycastle,L.L., Brambilla,P.,
            Burnett,M.S., Cesana,G., Dimitriou,M., Doney,A.S.F., Doring,A.,
            Elliott,P., Epstein,S.E., Ingi Eyjolfsson,G., Gigante,B.,
            Goodarzi,M.O., Grallert,H., Gravito,M.L., Groves,C.J., Hallmans,G.,
            Hartikainen,A.L., Hayward,C., Hernandez,D., Hicks,A.A., Holm,H.,
            Hung,Y.J., Illig,T., Jones,M.R., Kaleebu,P., Kastelein,J.J.P.,
            Khaw,K.T., Kim,E., Klopp,N., Komulainen,P., Kumari,M.,
            Langenberg,C., Lehtimaki,T., Lin,S.Y., Lindstrom,J., Loos,R.J.F.,
            Mach,F., McArdle,W.L., Meisinger,C., Mitchell,B.D., Muller,G.,
            Nagaraja,R., Narisu,N., Nieminen,T.V.M., Nsubuga,R.N., Olafsson,I.,
            Ong,K.K., Palotie,A., Papamarkou,T., Pomilla,C., Pouta,A.,
            Rader,D.J., Reilly,M.P., Ridker,P.M., Rivadeneira,F., Rudan,I.,
            Ruokonen,A., Samani,N., Scharnagl,H., Seeley,J., Silander,K.,
            Stancakova,A., Stirrups,K., Swift,A.J., Tiret,L.,
            Uitterlinden,A.G., van Pelt,L.J., Vedantam,S., Wainwright,N.,
            Wijmenga,C., Wild,S.H., Willemsen,G., Wilsgaard,T., Wilson,J.F.,
            Young,E.H., Zhao,J.H., Adair,L.S., Arveiler,D., Assimes,T.L.,
            Bandinelli,S., Bennett,F., Bochud,M., Boehm,B.O., Boomsma,D.I.,
            Borecki,I.B., Bornstein,S.R., Bovet,P., Burnier,M., Campbell,H.,
            Chakravarti,A., Chambers,J.C., Chen,Y.I., Collins,F.S.,
            Cooper,R.S., Danesh,J., Dedoussis,G., de Faire,U., Feranil,A.B.,
            Ferrieres,J., Ferrucci,L., Freimer,N.B., Gieger,C., Groop,L.C.,
            Gudnason,V., Gyllensten,U., Hamsten,A., Harris,T.B., Hingorani,A.,
            Hirschhorn,J.N., Hofman,A., Hovingh,G.K., Hsiung,C.A.,
            Humphries,S.E., Hunt,S.C., Hveem,K., Iribarren,C., Jarvelin,M.R.,
            Jula,A., Kahonen,M., Kaprio,J., Kesaniemi,A., Kivimaki,M.,
            Kooner,J.S., Koudstaal,P.J., Krauss,R.M., Kuh,D., Kuusisto,J.,
            Kyvik,K.O., Laakso,M., Lakka,T.A., Lind,L., Lindgren,C.M.,
            Martin,N.G., Marz,W., McCarthy,M.I., McKenzie,C.A., Meneton,P.,
            Metspalu,A., Moilanen,L., Morris,A.D., Munroe,P.B., Njolstad,I.,
            Pedersen,N.L., Power,C., Pramstaller,P.P., Price,J.F., Psaty,B.M.,
            Quertermous,T., Rauramaa,R., Saleheen,D., Salomaa,V.,
            Sanghera,D.K., Saramies,J., Schwarz,P.E.H., Sheu,W.H.,
            Shuldiner,A.R., Siegbahn,A., Spector,T.D., Stefansson,K.,
            Strachan,D.P., Tayo,B.O., Tremoli,E., Tuomilehto,J., Uusitupa,M.,
            van Duijn,C.M., Vollenweider,P., Wallentin,L., Wareham,N.J.,
            Whitfield,J.B., Wolffenbuttel,B.H.R., Ordovas,J.M., Boerwinkle,E.,
            Palmer,C.N.A., Thorsteinsdottir,U., Chasman,D.I., Rotter,J.I.,
            Franks,P.W., Ripatti,S., Cupples,L.A., Sandhu,M.S., Rich,S.S.,
            Boehnke,M., Deloukas,P., Kathiresan,S., Mohlke,K.L., Ingelsson,E.
            and Abecasis,G.R.
  CONSRTM   Global Lipids Genetics Consortium
  TITLE     Discovery and refinement of loci associated with lipid levels
  JOURNAL   Nat Genet 45 (11), 1274-1283 (2013)
   PUBMED   24097068
REFERENCE   2  (bases 1 to 5139)
  AUTHORS   Teslovich,T.M., Musunuru,K., Smith,A.V., Edmondson,A.C.,
            Stylianou,I.M., Koseki,M., Pirruccello,J.P., Ripatti,S.,
            Chasman,D.I., Willer,C.J., Johansen,C.T., Fouchier,S.W., Isaacs,A.,
            Peloso,G.M., Barbalic,M., Ricketts,S.L., Bis,J.C., Aulchenko,Y.S.,
            Thorleifsson,G., Feitosa,M.F., Chambers,J., Orho-Melander,M.,
            Melander,O., Johnson,T., Li,X., Guo,X., Li,M., Shin Cho,Y., Jin
            Go,M., Jin Kim,Y., Lee,J.Y., Park,T., Kim,K., Sim,X., Twee-Hee
            Ong,R., Croteau-Chonka,D.C., Lange,L.A., Smith,J.D., Song,K., Hua
            Zhao,J., Yuan,X., Luan,J., Lamina,C., Ziegler,A., Zhang,W.,
            Zee,R.Y., Wright,A.F., Witteman,J.C., Wilson,J.F., Willemsen,G.,
            Wichmann,H.E., Whitfield,J.B., Waterworth,D.M., Wareham,N.J.,
            Waeber,G., Vollenweider,P., Voight,B.F., Vitart,V.,
            Uitterlinden,A.G., Uda,M., Tuomilehto,J., Thompson,J.R., Tanaka,T.,
            Surakka,I., Stringham,H.M., Spector,T.D., Soranzo,N., Smit,J.H.,
            Sinisalo,J., Silander,K., Sijbrands,E.J., Scuteri,A., Scott,J.,
            Schlessinger,D., Sanna,S., Salomaa,V., Saharinen,J., Sabatti,C.,
            Ruokonen,A., Rudan,I., Rose,L.M., Roberts,R., Rieder,M.,
            Psaty,B.M., Pramstaller,P.P., Pichler,I., Perola,M., Penninx,B.W.,
            Pedersen,N.L., Pattaro,C., Parker,A.N., Pare,G., Oostra,B.A.,
            O'Donnell,C.J., Nieminen,M.S., Nickerson,D.A., Montgomery,G.W.,
            Meitinger,T., McPherson,R., McCarthy,M.I., McArdle,W., Masson,D.,
            Martin,N.G., Marroni,F., Mangino,M., Magnusson,P.K., Lucas,G.,
            Luben,R., Loos,R.J., Lokki,M.L., Lettre,G., Langenberg,C.,
            Launer,L.J., Lakatta,E.G., Laaksonen,R., Kyvik,K.O., Kronenberg,F.,
            Konig,I.R., Khaw,K.T., Kaprio,J., Kaplan,L.M., Johansson,A.,
            Jarvelin,M.R., Janssens,A.C., Ingelsson,E., Igl,W., Kees
            Hovingh,G., Hottenga,J.J., Hofman,A., Hicks,A.A., Hengstenberg,C.,
            Heid,I.M., Hayward,C., Havulinna,A.S., Hastie,N.D., Harris,T.B.,
            Haritunians,T., Hall,A.S., Gyllensten,U., Guiducci,C., Groop,L.C.,
            Gonzalez,E., Gieger,C., Freimer,N.B., Ferrucci,L., Erdmann,J.,
            Elliott,P., Ejebe,K.G., Doring,A., Dominiczak,A.F., Demissie,S.,
            Deloukas,P., de Geus,E.J., de Faire,U., Crawford,G., Collins,F.S.,
            Chen,Y.D., Caulfield,M.J., Campbell,H., Burtt,N.P.,
            Bonnycastle,L.L., Boomsma,D.I., Boekholdt,S.M., Bergman,R.N.,
            Barroso,I., Bandinelli,S., Ballantyne,C.M., Assimes,T.L.,
            Quertermous,T., Altshuler,D., Seielstad,M., Wong,T.Y., Tai,E.S.,
            Feranil,A.B., Kuzawa,C.W., Adair,L.S., Taylor,H.A. Jr.,
            Borecki,I.B., Gabriel,S.B., Wilson,J.G., Holm,H.,
            Thorsteinsdottir,U., Gudnason,V., Krauss,R.M., Mohlke,K.L.,
            Ordovas,J.M., Munroe,P.B., Kooner,J.S., Tall,A.R., Hegele,R.A.,
            Kastelein,J.J., Schadt,E.E., Rotter,J.I., Boerwinkle,E.,
            Strachan,D.P., Mooser,V., Stefansson,K., Reilly,M.P., Samani,N.J.,
            Schunkert,H., Cupples,L.A., Sandhu,M.S., Ridker,P.M., Rader,D.J.,
            van Duijn,C.M., Peltonen,L., Abecasis,G.R., Boehnke,M. and
            Kathiresan,S.
  TITLE     Biological, clinical and population relevance of 95 loci for blood
            lipids
  JOURNAL   Nature 466 (7307), 707-713 (2010)
   PUBMED   20686565
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC068234.8.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2365345.1,
                                           SRR18074969.2331544.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-145               AC068234.8         66343-66487         c
            146-307             AC068234.8         64055-64216         c
            308-422             AC068234.8         62059-62173         c
            423-583             AC068234.8         55086-55246         c
            584-695             AC068234.8         48410-48521         c
            696-826             AC068234.8         46150-46280         c
            827-5139            AC068234.8         41114-45426         c
FEATURES             Location/Qualifiers
     source          1..5139
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.32"
     gene            1..5139
                     /gene="EFCAB13"
                     /gene_synonym="C17orf57"
                     /note="EF-hand calcium binding domain 13"
                     /db_xref="GeneID:124989"
                     /db_xref="HGNC:HGNC:26864"
     exon            1..145
                     /gene="EFCAB13"
                     /gene_synonym="C17orf57"
                     /inference="alignment:Splign:2.1.0"
     exon            146..307
                     /gene="EFCAB13"
                     /gene_synonym="C17orf57"
                     /inference="alignment:Splign:2.1.0"
     exon            308..422
                     /gene="EFCAB13"
                     /gene_synonym="C17orf57"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    363..365
                     /gene="EFCAB13"
                     /gene_synonym="C17orf57"
                     /note="upstream in-frame stop codon"
     CDS             393..926
                     /gene="EFCAB13"
                     /gene_synonym="C17orf57"
                     /note="isoform H is encoded by transcript variant J;
                     EF-hand domain-containing protein C17orf57; EF-hand
                     calcium-binding domain-containing protein 13"
                     /codon_start=1
                     /product="EF-hand calcium-binding domain-containing
                     protein 13 isoform H"
                     /protein_id="NP_001413521.1"
                     /db_xref="GeneID:124989"
                     /db_xref="HGNC:HGNC:26864"
                     /translation="

METKVHLFCQAEENIDLLDDGSNSFATDLSSGTINHKKYIKFSKTIEKEISPEIRSLSPEYKKIFETSIIFCGEEKSSDFSGEKKVGRKSLQVQQHSKRTEIIPPFLKLSKEKVTRKENSLCKLPNQYSVHKTSSPLCTSSAITREKEMLSNLYMTLYDEVTHGYLHSKELSGNKRF"

     exon            423..583
                     /gene="EFCAB13"
                     /gene_synonym="C17orf57"
                     /inference="alignment:Splign:2.1.0"
     exon            584..695
                     /gene="EFCAB13"
                     /gene_synonym="C17orf57"
                     /inference="alignment:Splign:2.1.0"
     exon            696..826
                     /gene="EFCAB13"
                     /gene_synonym="C17orf57"
                     /inference="alignment:Splign:2.1.0"
     exon            827..5139
                     /gene="EFCAB13"
                     /gene_synonym="C17orf57"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4505..4510
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFCAB13"
                     /gene_synonym="C17orf57"
                     /note="hexamer: ATTAAA"
     polyA_site      4530
                     /gene="EFCAB13"
                     /gene_synonym="C17orf57"
                     /note="major polyA site"
     regulatory      4613..4618
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFCAB13"
                     /gene_synonym="C17orf57"
                     /note="hexamer: AATATA"
     polyA_site      4632
                     /gene="EFCAB13"
                     /gene_synonym="C17orf57"
                     /note="major polyA site"
     regulatory      5120..5125
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFCAB13"
                     /gene_synonym="C17orf57"
                     /note="hexamer: AATAAA"
     polyA_site      5139
                     /gene="EFCAB13"
                     /gene_synonym="C17orf57"
ORIGIN      

gcggcgcgggatcctgggaaggctgcagagctagagcagcgccgcccgaggggcggcaggggctgaccacagagagcgcgggggcctccagccgagaggaagggagggcagctcgggccggtagtgggacccttgggggacagagtttggagaggcttatgcggtacctgattcatccagcaaattaagacctgccaactttttgataatctcgtcaataaattacagaacaattgttcctttcaagatttattcaaaacgtgtcaactctgcttaattaagcactttgatgatttaagaaatcttggaaatccttttgtactattgctcattcatacttgttcatcaaagcctggagtccttaaggacagaatttacctctaaacagaaagatggaaactaaagtacatttattctgccaggcagaggaaaatattgacttattagatgatggctctaattcttttgcaactgacttgtcatcaggaactattaaccacaagaaatacatcaagttttctaaaacaatagagaaggaaatttcaccggaaattaggagtttgagcccagaatataaaaaaatatttgaaacatcaataatcttttgtggagaagaaaagtcctctgatttttcaggagaaaaaaaagttgggagaaagagtttacaagtacaacagcacagtaaaagaactgagattatccctccttttctgaagctgtcaaaggagaaggtgacaaggaaagaaaactctttatgcaagttgccgaatcagtacagcgttcacaagacttcatcacctctttgtacatcttctgcaattactcgggaaaaggaaatgctgtctaacctctacatgacattatatgatgaagtaacccatggatatttacactcaaaagaattaagtggtaataagaggttctaaaatttcttgaatacatttcctggttatgtgctttttaggaattgtttcagcagttagtgcctcttcatctactcctaatggcttatggtatcaactgataatacatggtatggcaaatgctgcgggctgtgaggaagcaaaagtagatagtttaatccataaatatctttggttgtattggtaagatagggaaaatataatatgtagcttatactagttcaaatgtattttttggaaaaatgtctgcatattacatcccatggataaattagtaagtgctggagtcactgatatcactggaatttagtctttggtatcttagtattaaggcttatactacccttcactccttcatgacactgacctctcccgtatcttgggtttctcctttatacttatggaataatttcacatagttttccttttaccttaactctggttgtcatattgtgtatcttagtgtccaaatgggtgactcatacttctggagcttcacacgttcaaaaccaataattttaccttgattctcctgaccaacactgatggccacaaattacacattgtcattatgtgaaaatctcagacgtcaacgtcttattcttcactcacaatctcttatacttccagctctttttatttagaattttatttccttgacctctccatttggtgccactatgattgtatgatttccaacctcagctgcccttagcaccagttggtattccctttaagttttggtgtgatctctcctgtttcctttggtatctattccaaaccttcactactctcctcaaatactcaattatgtcacctatccaactttaaacatttaaaaatgttttacttaattaaaataaaattaaaacttgctagtctgaaatctatgaaactgaatcttttctcccctatttcttttgaaaaaaattttattgtggtaaaaatatttaacatgagatctaccctcttaacagattttaaaaatgtaagttattcttatctataggcacaatattgtacagtatttctatagaacttattcatcttgtgtaactgaaattttatactcactgattagcaactcactatttcctcataccccctgctccaggcaactacaattctattctttgttccataagtttgactattttagatgctttatataattggaattctgtagtatttgtccttctgtaactggcttatttcacttagcataatgtccttcatattcattcatgttattacatattacaggattttcttctttttaaaggctgattgatattctgtcatatgtatataacgtactttacccccccccccatttatctgacatttaggttgtttccacagatatttagattgttttccataggttggctattgtgaatagtactgcagtgaacaggggagtactactgtctcttcaaaatcctggttttaattcttttggataaatacccagaagtgggattactggatcatgtggctttgctttttcatagagagttagtaagggctgttgggaagcttcctaaactccttgatattcttacctacaaacaacattcatatcctttcatcttgtctcattggaaaaggtgccctttcaccagactaatcctttcatttcttgattttcttctgctttctcaaggcctatgctttgctaattttatactcaatattttttcagagaagccttttgaaggagttgttttcattagttgctgaattttctcacttcccatttcatggaaatctggcttccacctccaaaattctactaaaacttattttattaaagccattattatcaactctttagtcattattttgtatttatcactgttagggctaggtgaggtggctcatgcctgtattcccagcactgcggaaggccaatgtgggaggatcatttgagactaggagttcaagaccagcctgggcaatatagtgagatcccatctctacaaaaaataacaaaaacaaaaaattagttgggcatgttggcacacagctgtagtcctagctactggagaggctgaggtaggaggattgtttaagcccaggatttcgcgacaggagtttgagactgcagtgagccatgattgcactactgcattccagcctgagcaacagagaaactctggctctaaaaagacaaacaaaaatagcactatcatcaattgcctcttttctgaaaataaagtgtagtatccactgaaccaaaaaattcagttcaatagacatttttttgagaatttcttaattaggcactagaaacagaagaatgaaaaaatcttgctccatagaagctgacagtttagtgagggatattgacatgcaagcaatcataataccaagggctttcactgagatacatagtaagtgctatgggaacacagaggaaaaatttaccattcctagggcaagttgtggaagcctttgcctatgtgcccttgtgtgacttgtctgacagtttctgaaagttctttaggaaacaggttgaaagatttgaatattaaaagattgaagagggtggggtaaaaaagaaacaagtttgaaaggctgaaaacacagattggctccctttttagtgattattatttttttgagagtggggggaataaggataattattctttttgattaactaactaaatgttttgttatgtgtgtgcagcacttcataaagcctgtaaaatttttagtaaaattcgaagtggtaagatttatgtgaatgatcttccagtgatcctttgcatcttgagaatttctataagtgatttagaaatgcgacaggcactaaagactgttgatattgatggtaagttttatcttttcagtattagtttaagggtctgcaatcataaatatgtttgtcagattaattacaaatgataggaaagctaaaccttaaaatatattgtaaaaacatcatttttggtcatattgtatgttacaaaacatttttacatgttacaagaacattacttacaataatgatattgaaaattggcctcaggtttatgtaattggattgattaattactagactggattatggcatattctcattattgttccacgcatggtctaatcttatttagttacgtaatttaaataatgtaataaatacttgacccaaccacccaaaataaaaagtaggaccttgtcaataatttacatccaactgtaaactttcctaagcaacctattattctgttttccccaacctgaggtaagaattaccttgaatcctatattcattattctcttatttttctgtttaaatagtattattgttatggataggtatttttgtaaaatagttcaaaaattttagttgtttaaaaaactttagtaaacagtttttcattatgtatataatcttttgtttttttcccttaatattatatgactaagatttattcatattgttgtatactgctttttttgtatgctcttgctcttgccacccttgaattgatcgcctttaaaaattatggttgttctaatagatatacggttattatctgattgtggttttaatttgcatttcctgaatgattaaataatgttgaatatcttttcatgtgcttgtttgccatttgtatattttttgcccattgaaaaattgtgttcttattgtattttgagattctttatatattctgaatataagtcctttattggatatgtgattcgtagatattttattccattctgttgcttgtctttttattctcttaagaatgtttttagaaaaggaaaaattcatacttttgatgaagtccagtctgcaattttttctttcatgaattgcttttgatatcttatctaaaagatctttgccaacccaaagtcacaacaatatcagaaaacaagtcaaagtagttcattaaaatttggacagatgtttcactgtttttgaaagaaaggagaacccactctcaagttgttacactgaagaagtggagacagacaacttgatagacttttcagtattggagaaagtgcttctgtggtatggaagtgagaacaaccaagccttgtcatttcctctgcagacaattggaagcactgaagtattcctctataggctatttctgctcagatgacattaaattgaaatatagatttatacttgttttcttcgtgacatagataacatcactgatgtaaataaaccctgtcaaagttg

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