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Previous release (v1)
2025-04-17 20:35:13, GGRNA.v2 : RefSeq release 229 (Mar, 2025)
LOCUS NM_001426591 5184 bp mRNA linear PRI 15-JUN-2024
DEFINITION Homo sapiens EF-hand calcium binding domain 13 (EFCAB13),
transcript variant I, mRNA.
ACCESSION NM_001426591
VERSION NM_001426591.1
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 5184)
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 5184)
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 :: SRR14372080.2000338.1,
SRR14038196.1792606.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1966682, SAMEA1968189
[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
872-5184 AC068234.8 41114-45426 c
FEATURES Location/Qualifiers
source 1..5184
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q21.32"
gene 1..5184
/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..971
/gene="EFCAB13"
/gene_synonym="C17orf57"
/note="isoform H is encoded by transcript variant I;
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_001413520.1"
/db_xref="GeneID:124989"
/db_xref="HGNC:HGNC:26864"
/translation="
METKVHLFCQAEENIDLLDDGSNSFATDLSSGTINHKKYIKFSKTIEKEISPEIRSLSPEYKKIFETSIIFCGEEKSSDFSGEKKVGRKSLQVQQHSKRTEIIPPFLKLSKEKVTRKENSLCKLPNQYSVHKTSSPLCTSSAITREKEMLSNLYMTLYDEVTHGYLHSKELSGNKRF"
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..5184
/gene="EFCAB13"
/gene_synonym="C17orf57"
/inference="alignment:Splign:2.1.0"
regulatory 4550..4555
/regulatory_class="polyA_signal_sequence"
/gene="EFCAB13"
/gene_synonym="C17orf57"
/note="hexamer: ATTAAA"
polyA_site 4575
/gene="EFCAB13"
/gene_synonym="C17orf57"
/note="major polyA site"
regulatory 4658..4663
/regulatory_class="polyA_signal_sequence"
/gene="EFCAB13"
/gene_synonym="C17orf57"
/note="hexamer: AATATA"
polyA_site 4677
/gene="EFCAB13"
/gene_synonym="C17orf57"
/note="major polyA site"
regulatory 5165..5170
/regulatory_class="polyA_signal_sequence"
/gene="EFCAB13"
/gene_synonym="C17orf57"
/note="hexamer: AATAAA"
polyA_site 5184
/gene="EFCAB13"
/gene_synonym="C17orf57"
ORIGIN
gcggcgcgggatcctgggaaggctgcagagctagagcagcgccgcccgaggggcggcaggggctgaccacagagagcgcgggggcctccagccgagaggaagggagggcagctcgggccgaagtcgttggcttcgtaagagcagggtctatgggaagcctcctcagcgtgggttcttggaagaggtggagtttggagaggcttatgcggtacctgattcatccagcaaattaagacctgccaactttttgataatctcgtcaataaattacagaacaattgttcctttcaagatttattcaaaacgtgtcaactctgcttaattaagcactttgatgatttaagaaatcttggaaatccttttgtactattgctcattcatacttgttcatcaaagcctggagtccttaaggacagaatttacctctaaacagaaagatggaaactaaagtacatttattctgccaggcagaggaaaatattgacttattagatgatggctctaattcttttgcaactgacttgtcatcaggaactattaaccacaagaaatacatcaagttttctaaaacaatagagaaggaaatttcaccggaaattaggagtttgagcccagaatataaaaaaatatttgaaacatcaataatcttttgtggagaagaaaagtcctctgatttttcaggagaaaaaaaagttgggagaaagagtttacaagtacaacagcacagtaaaagaactgagattatccctccttttctgaagctgtcaaaggagaaggtgacaaggaaagaaaactctttatgcaagttgccgaatcagtacagcgttcacaagacttcatcacctctttgtacatcttctgcaattactcgggaaaaggaaatgctgtctaacctctacatgacattatatgatgaagtaacccatggatatttacactcaaaagaattaagtggtaataagaggttctaaaatttcttgaatacatttcctggttatgtgctttttaggaattgtttcagcagttagtgcctcttcatctactcctaatggcttatggtatcaactgataatacatggtatggcaaatgctgcgggctgtgaggaagcaaaagtagatagtttaatccataaatatctttggttgtattggtaagatagggaaaatataatatgtagcttatactagttcaaatgtattttttggaaaaatgtctgcatattacatcccatggataaattagtaagtgctggagtcactgatatcactggaatttagtctttggtatcttagtattaaggcttatactacccttcactccttcatgacactgacctctcccgtatcttgggtttctcctttatacttatggaataatttcacatagttttccttttaccttaactctggttgtcatattgtgtatcttagtgtccaaatgggtgactcatacttctggagcttcacacgttcaaaaccaataattttaccttgattctcctgaccaacactgatggccacaaattacacattgtcattatgtgaaaatctcagacgtcaacgtcttattcttcactcacaatctcttatacttccagctctttttatttagaattttatttccttgacctctccatttggtgccactatgattgtatgatttccaacctcagctgcccttagcaccagttggtattccctttaagttttggtgtgatctctcctgtttcctttggtatctattccaaaccttcactactctcctcaaatactcaattatgtcacctatccaactttaaacatttaaaaatgttttacttaattaaaataaaattaaaacttgctagtctgaaatctatgaaactgaatcttttctcccctatttcttttgaaaaaaattttattgtggtaaaaatatttaacatgagatctaccctcttaacagattttaaaaatgtaagttattcttatctataggcacaatattgtacagtatttctatagaacttattcatcttgtgtaactgaaattttatactcactgattagcaactcactatttcctcataccccctgctccaggcaactacaattctattctttgttccataagtttgactattttagatgctttatataattggaattctgtagtatttgtccttctgtaactggcttatttcacttagcataatgtccttcatattcattcatgttattacatattacaggattttcttctttttaaaggctgattgatattctgtcatatgtatataacgtactttacccccccccccatttatctgacatttaggttgtttccacagatatttagattgttttccataggttggctattgtgaatagtactgcagtgaacaggggagtactactgtctcttcaaaatcctggttttaattcttttggataaatacccagaagtgggattactggatcatgtggctttgctttttcatagagagttagtaagggctgttgggaagcttcctaaactccttgatattcttacctacaaacaacattcatatcctttcatcttgtctcattggaaaaggtgccctttcaccagactaatcctttcatttcttgattttcttctgctttctcaaggcctatgctttgctaattttatactcaatattttttcagagaagccttttgaaggagttgttttcattagttgctgaattttctcacttcccatttcatggaaatctggcttccacctccaaaattctactaaaacttattttattaaagccattattatcaactctttagtcattattttgtatttatcactgttagggctaggtgaggtggctcatgcctgtattcccagcactgcggaaggccaatgtgggaggatcatttgagactaggagttcaagaccagcctgggcaatatagtgagatcccatctctacaaaaaataacaaaaacaaaaaattagttgggcatgttggcacacagctgtagtcctagctactggagaggctgaggtaggaggattgtttaagcccaggatttcgcgacaggagtttgagactgcagtgagccatgattgcactactgcattccagcctgagcaacagagaaactctggctctaaaaagacaaacaaaaatagcactatcatcaattgcctcttttctgaaaataaagtgtagtatccactgaaccaaaaaattcagttcaatagacatttttttgagaatttcttaattaggcactagaaacagaagaatgaaaaaatcttgctccatagaagctgacagtttagtgagggatattgacatgcaagcaatcataataccaagggctttcactgagatacatagtaagtgctatgggaacacagaggaaaaatttaccattcctagggcaagttgtggaagcctttgcctatgtgcccttgtgtgacttgtctgacagtttctgaaagttctttaggaaacaggttgaaagatttgaatattaaaagattgaagagggtggggtaaaaaagaaacaagtttgaaaggctgaaaacacagattggctccctttttagtgattattatttttttgagagtggggggaataaggataattattctttttgattaactaactaaatgttttgttatgtgtgtgcagcacttcataaagcctgtaaaatttttagtaaaattcgaagtggtaagatttatgtgaatgatcttccagtgatcctttgcatcttgagaatttctataagtgatttagaaatgcgacaggcactaaagactgttgatattgatggtaagttttatcttttcagtattagtttaagggtctgcaatcataaatatgtttgtcagattaattacaaatgataggaaagctaaaccttaaaatatattgtaaaaacatcatttttggtcatattgtatgttacaaaacatttttacatgttacaagaacattacttacaataatgatattgaaaattggcctcaggtttatgtaattggattgattaattactagactggattatggcatattctcattattgttccacgcatggtctaatcttatttagttacgtaatttaaataatgtaataaatacttgacccaaccacccaaaataaaaagtaggaccttgtcaataatttacatccaactgtaaactttcctaagcaacctattattctgttttccccaacctgaggtaagaattaccttgaatcctatattcattattctcttatttttctgtttaaatagtattattgttatggataggtatttttgtaaaatagttcaaaaattttagttgtttaaaaaactttagtaaacagtttttcattatgtatataatcttttgtttttttcccttaatattatatgactaagatttattcatattgttgtatactgctttttttgtatgctcttgctcttgccacccttgaattgatcgcctttaaaaattatggttgttctaatagatatacggttattatctgattgtggttttaatttgcatttcctgaatgattaaataatgttgaatatcttttcatgtgcttgtttgccatttgtatattttttgcccattgaaaaattgtgttcttattgtattttgagattctttatatattctgaatataagtcctttattggatatgtgattcgtagatattttattccattctgttgcttgtctttttattctcttaagaatgtttttagaaaaggaaaaattcatacttttgatgaagtccagtctgcaattttttctttcatgaattgcttttgatatcttatctaaaagatctttgccaacccaaagtcacaacaatatcagaaaacaagtcaaagtagttcattaaaatttggacagatgtttcactgtttttgaaagaaaggagaacccactctcaagttgttacactgaagaagtggagacagacaacttgatagacttttcagtattggagaaagtgcttctgtggtatggaagtgagaacaaccaagccttgtcatttcctctgcagacaattggaagcactgaagtattcctctataggctatttctgctcagatgacattaaattgaaatatagatttatacttgttttcttcgtgacatagataacatcactgatgtaaataaaccctgtcaaagttg
//
by
@meso_cacase at
DBCLS
This page is licensed under a
Creative Commons Attribution 4.0 International License (CC BY 4.0).
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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