2025-04-17 20:17:02, GGRNA.v2 : RefSeq release 229 (Mar, 2025)
LOCUS NM_001426587 3680 bp mRNA linear PRI 15-JUN-2024 DEFINITION Homo sapiens EF-hand calcium binding domain 13 (EFCAB13), transcript variant E, mRNA. ACCESSION NM_001426587 VERSION NM_001426587.1 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 3680) 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 3680) 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 and AC040934.15. ##Evidence-Data-START## Transcript exon combination :: SRR14038191.1110428.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2145240 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-120 AC068234.8 66368-66487 c 121-190 AC068234.8 65919-65988 c 191-352 AC068234.8 64055-64216 c 353-467 AC068234.8 62059-62173 c 468-628 AC068234.8 55086-55246 c 629-740 AC068234.8 48410-48521 c 741-871 AC068234.8 46150-46280 c 872-954 AC068234.8 45344-45426 c 955-1098 AC068234.8 42491-42634 c 1099-1170 AC068234.8 19934-20005 c 1171-1665 AC068234.8 15476-15970 c 1666-1803 AC068234.8 12539-12676 c 1804-1875 AC068234.8 11189-11260 c 1876-2019 AC040934.15 65539-65682 2020-2094 AC040934.15 68127-68201 2095-2238 AC040934.15 69936-70079 2239-2310 AC040934.15 76234-76305 2311-2454 AC040934.15 77980-78123 2455-2526 AC040934.15 78664-78735 2527-2571 AC040934.15 83749-83793 2572-2715 AC040934.15 86875-87018 2716-2787 AC040934.15 88950-89021 2788-3680 AC040934.15 103920-104812 FEATURES Location/Qualifiers source 1..3680 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="17" /map="17q21.32" gene 1..3680 /gene="EFCAB13" /gene_synonym="C17orf57" /note="EF-hand calcium binding domain 13" /db_xref="GeneID:124989" /db_xref="HGNC:HGNC:26864" exon 1..120 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 121..190 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 191..352 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 353..467 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" misc_feature 408..410 /gene="EFCAB13" /gene_synonym="C17orf57" /note="upstream in-frame stop codon" CDS 438..2936 /gene="EFCAB13" /gene_synonym="C17orf57" /note="isoform E is encoded by transcript variant E; 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 E" /protein_id="NP_001413516.1" /db_xref="GeneID:124989" /db_xref="HGNC:HGNC:26864" /translation="
METKVHLFCQAEENIDLLDDGSNSFATDLSSGTINHKKYIKFSKTIEKEISPEIRSLSPEYKKIFETSIIFCGEEKSSDFSGEKKVGRKSLQVQQHSKRTEIIPPFLKLSKEKVTRKENSLCKLPNQYSVHKTSSPLCTSSAITREKEMLSNLYMTLYDEVTHGYLHSKELSALHKACKIFSKIRSGKIYVNDLPVILCILRISISDLEMRQALKTVDIDGNHMVDIGDIIFTLNELQEQYEDVSITEGSPLNEITSDRKLSSVAGCYLKYKKKNSLSSKLPEPSISKKLNKKSNQYYSKIMENDDLESKRPKNTWQIRKFLGGVGSSNVGVQEPYSKNGINFKKHSEKGEIHDSKSKPQSLKSSTSLSKSLDKSDISSIPKLQKPAVRKHSSLQKQVSSTEKTAISTLENFCEAISKLQENYIAAEELQSILPSTGINLLDEEFQKIVTDTSRNENGMVELDDFVNALAKERSFPECNALPGVIKAIDKIKDKNVDYEDLNTCLQNFGIYLSKPEFKKITELTEAGETKKVNFKEFIDTMMSNTECFSEKLVLPDAIETLDDLRKETMSVSDLWNTLSSLNSNLKKDEFLAALELVTVDEGDKVQFEEFAKVVRNMRDAARLEELQEVVLAADLLEGDMIAGKNLEDFLRNVGIKSPKEEVEKILQSDFVSEDNMVNIKDCMRALRDTQKFSNYIDFRKEASNLKLPKVNEIKEAANILSHVDNGKIGIPDLEHALKCLNVNLTEEDFNEALNCCNVSDNMEVDLKDFLMKMKESPHFQKSKATQILLATTQILQNDLVDVSDLKTLLMDKDLHTANAILTVMLRHVPEHG"
exon 468..628 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 629..740 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 741..871 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 872..954 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 955..1098 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 1099..1170 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 1171..1665 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 1666..1803 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 1804..1875 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 1876..2019 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 2020..2094 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 2095..2238 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 2239..2310 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 2311..2454 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 2455..2526 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 2527..2571 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 2572..2715 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 2716..2787 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" exon 2788..3680 /gene="EFCAB13" /gene_synonym="C17orf57" /inference="alignment:Splign:2.1.0" regulatory 3652..3657 /regulatory_class="polyA_signal_sequence" /gene="EFCAB13" /gene_synonym="C17orf57" /note="hexamer: AATAAA" polyA_site 3680 /gene="EFCAB13" /gene_synonym="C17orf57" /note="major polyA site" ORIGIN
gcggcgcgggatcctgggaaggctgcagagctagagcagcgccgcccgaggggcggcaggggctgaccacagagagcgcgggggcctccagccgagaggaagggagggcagctcgggccgaagtcgttggcttcgtaagagcagggtctatgggaagcctcctcagcgtgggttcttggaagaggtggagtttggagaggcttatgcggtacctgattcatccagcaaattaagacctgccaactttttgataatctcgtcaataaattacagaacaattgttcctttcaagatttattcaaaacgtgtcaactctgcttaattaagcactttgatgatttaagaaatcttggaaatccttttgtactattgctcattcatacttgttcatcaaagcctggagtccttaaggacagaatttacctctaaacagaaagatggaaactaaagtacatttattctgccaggcagaggaaaatattgacttattagatgatggctctaattcttttgcaactgacttgtcatcaggaactattaaccacaagaaatacatcaagttttctaaaacaatagagaaggaaatttcaccggaaattaggagtttgagcccagaatataaaaaaatatttgaaacatcaataatcttttgtggagaagaaaagtcctctgatttttcaggagaaaaaaaagttgggagaaagagtttacaagtacaacagcacagtaaaagaactgagattatccctccttttctgaagctgtcaaaggagaaggtgacaaggaaagaaaactctttatgcaagttgccgaatcagtacagcgttcacaagacttcatcacctctttgtacatcttctgcaattactcgggaaaaggaaatgctgtctaacctctacatgacattatatgatgaagtaacccatggatatttacactcaaaagaattaagtgcacttcataaagcctgtaaaatttttagtaaaattcgaagtggtaagatttatgtgaatgatcttccagtgatcctttgcatcttgagaatttctataagtgatttagaaatgcgacaggcactaaagactgttgatattgatggtaaccacatggtggatattggggatattatatttactttgaatgagctacaggaacagtatgaggatgtttcaattacagaaggatcacctttgaatgaaattacttcagacagaaagttatcaagtgtagcaggatgctatctaaaatataagaagaaaaatagtttgtcttccaaactccctgaaccttcaatatccaaaaagttaaataaaaaaagcaaccaatattatagcaaaattatggagaatgatgaccttgaatctaaaagaccaaaaaatacttggcaaataagaaaatttctgggtggggttggcagcagtaatgtaggagtccaagaaccatattcaaagaatggcataaactttaaaaaacattcagagaagggtgaaattcatgactcaaagtctaaaccacaaagcttgaagagtagtacaagcctcagtaagtctctggataaaagtgatatttctagtatcccaaaacttcagaagccagctgtaagaaagcattccagtctccaaaaacaggtttcgtctacggaaaaaactgcaattagtactctggaaaacttctgtgaagctatcagtaaacttcaagaaaattacattgcagcagaagaacttcagtctattttgccttcaacaggaattaatttattagatgaagaattccagaagattgtgacagacactagtagaaatgagaatggaatggtggagttagatgactttgtaaatgctctcgccaaggagcgaagttttcctgaatgcaatgcgttgcctggtgtcattaaagccattgataaaattaaagataaaaatgtggattatgaggatctaaatacttgtcttcaaaattttggtatttacctttctaagccagaatttaagaagatcacagaactgactgaagctggtgaaacaaaaaaagtgaattttaaagaattcattgatactatgatgagcaacacggaatgcttctctgaaaaattagtattgcctgatgctattgaaaccctcgacgatctcagaaaggagacgatgagtgtttctgacctgtggaatactctgtctagtttgaatagtaatttaaaaaaggatgaatttctagctgcattggaactagtgacagttgatgaaggtgacaaagtacaatttgaagaatttgcaaaagtagtaaggaatatgcgtgatgctgccaggttagaagagttacaggaagttgtcttagctgctgatttgctggaaggtgacatgatagctgggaagaacttggaagactttctaagaaatgttgggattaagtcacctaaagaagaggtagagaaaattcttcaatcagattttgtttctgaagataacatggtgaacattaaagactgtatgagggctttgagggacacccagaaattttccaattatattgatttcaggaaagaggcttcaaatctaaaattaccaaaggtaaacgagattaaagaagctgctaacatcttgtcacatgtcgataatggcaagattggtatacctgatttggagcatgccttgaaatgtttgaatgttaatttaactgaggaggacttcaatgaagcccttaactgttgtaacgtcagtgataatatggaggtggatttaaaagatttcttaatgaaaatgaaagaaagtccacatttccaaaagtccaaggctacacagatactcttagctactacccaaattctccagaatgatctagttgatgtctctgacctcaagacattattgatggacaaggaccttcatacagctaatgctatacttactgtaatgttaagacatgtacctgaacatggttagtagtttcaatgcgtctatcttataaggaccatcctctaccacaggggtggaaggtctatgggtaggacatgcagggatggagggtatcctgtggaagctgaggtgggatgactgctggacactggtactgcccctacaggtgtgccaaccctgagcttcatggggccaaacaaatggggaagtcagagctcatcttatccctgtgtgagtccactgacagtacctaggaggtgagattattttgtgaactgactgacatgcacagtggtcaatcagaatgccatccatagagtaaaacagggtcctggaggcccttttggtttttggaaggtaaattatgatgatatccagggataccagggggtgttgcacatagtggtggctcagggcagcagatatttataaatataaaaaataattttactattttaatgacaggtatagctgaatattatccatgatgggttcttaaaatgagttggggagtatttttttgttttgttttttaaaagagacttttttcttccttgaatgttgagtagaattcataggtgaagccatgtgggccaagagtttttttgtgaaaggctttggattatttatttaatgtctttaaatgaataggattaacaaggtattctattttcttgttagttttggcaagctatgtttttagaggaattcgttcattagatctgccttttcaaatgtattgaataaagttgttctctttttgacatctga
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If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
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