Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 2, mRNA.
| RefSeq Version | NM_001143682.1, 219521892 |
| Length | 2790 bp |
| Structure | linear |
| Update Date | 11-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 2, mRNA. |
| Product | calcium-binding and coiled-coil domain-containing protein 1 isoform 2 |
| Comment | COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DB060684.1, AK122773.1 and BC003177.1. Transcript Variant: This variant (2) omits an inframe coding exon and uses an alternate (in-frame) splice acceptor site, compared to variant 2. This results in a shorter protein (isoform 2). |
| RefSeq | NP_001137154.1 |
| CDS | 145..1965 | Exon (1) | 1..120 | Exon (2) | 1..120 | Exon (3) | 121..300 | Exon (4) | 301..403 | Exon (5) | 404..495 | Exon (6) | 496..654 | Exon (7) | 655..803 | Exon (8) | 804..894 | Exon (9) | 895..1149 | Exon (10) | 1150..1275 | Exon (11) | 1276..1371 | Exon (12) | 1372..1480 | Exon (13) | 1481..1680 | Exon (14) | 1681..1787 | Exon (15) | 1788..2790 |
| Translation | MEESPLSRAPSRGGVNFLNVARTYIPNTKVECHYTLPPGTMPSASDWIGIFKVEAACVRD
YHTFVWSSVPESTTDGSPIHTSVQFQEPRPMDELVTLEEADGGSDILLVVPKATVLQNQL
DESQQERNDLMQLKLQLEGQVTELRSRVQELERALATARQEHTELMEQYKGISRSHGEIT
EERDILSRQQGDHVARILELEDDIQTISEKVLTKEVELDRLRDTVKALTREQEKLLGQLK
EVQADKEQSEAELEPLKEQLRGAQELAASSQQKATLLGEELASAAAARDRTIAELHRSRL
EVAEVNGRLAELGLHLKEEKCQWSKERAGLLQSVEAEKDKILKLSAEILRLEKAVQEERT
QNQVFKTELAREKDSSLVQLSESKRELTELRSALRVLQKEKEQLQEEKQELLEYMRKLEA
RLEKVADEKWNEDATTEDEEAAVGLSCPAALTDSEDESPEDMRLPPYGLCERGDPGSSPA
GPREASPLVVISQPAPISPHLSGPAEDSSSDSEAEDEKSVLMAAVQSGGEEANLLLPELG
SAFYDMASGFTVGTLSETSTGGPATPTWKECPICKERFPAESDKDALEDHMDGHFFFSTQ
DPFTFE
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| Position | Chain | Variation | Link |
| complement(17..18) | - | , t | dbSNP:34077073 |
| complement(179) | - | t, c | dbSNP:78731604 |
| complement(349) | - | t, c | dbSNP:36049232 |
| complement(523) | - | g, a | dbSNP:35358749 |
| complement(588) | - | t, c | dbSNP:77035073 |
| 993 | + | c, t | dbSNP:3741658 |
| complement(1019) | - | g, a | dbSNP:113333236 |
| 1067 | + | a, g | dbSNP:3741659 |
| complement(1259) | - | t, c | dbSNP:34311341 |
| complement(1468) | - | t, c | dbSNP:115704643 |
| complement(1568) | - | g, c | dbSNP:116674128 |
| complement(1571) | - | c, a | dbSNP:34229062 |
| complement(1804) | - | t, g | dbSNP:34281379 |
| complement(1966) | - | t, a | dbSNP:113122716 |
| complement(2068) | - | , g | dbSNP:34933450 |
| complement(2293) | - | t, g | dbSNP:75685221 |
| complement(2575..2576) | - | , a | dbSNP:71661048 |
| 2619 | + | a, g | dbSNP:3741662 |
| complement(2655) | - | t, c | dbSNP:61098175 |
| complement(2676..2677) | - | , g | dbSNP:34019749 |
| complement(2696) | - | g, c | dbSNP:115444823 |
| Gene Symbol | CALCOCO1 |
| Gene Synonym | calphoglin; Cocoa; KIAA1536; PP13275 |
| Chromosome | 12 |
| Locus Map | 12q13.13 |
| All Transcripts | NM_001143682 , NM_020898 |
| Title | Genome-wide association study of panic disorder in the Japanese population . |
| Author | Otowa,T., Yoshida,E., Sugaya,N., Yasuda,S., Nishimura,Y., Inoue,K., Tochigi,M., Umekage,T., Miyagawa,T., Nishida,N., Tokunaga,K., Tanii,H., Sasaki,T., Kaiya,H. and Okazaki,Y. |
| Journal | J. Hum. Genet. 54 (2), 122-126 (2009) |
| Title | Screening and association testing of common coding variation in steroid hormone receptor co-activator and co-repressor genes in relation to breast cancer risk: the Multiethnic Cohort . |
| Author | Haiman,C.A., Garcia,R.R., Hsu,C., Xia,L., Ha,H., Sheng,X., Le Marchand,L., Kolonel,L.N., Henderson,B.E., Stallcup,M.R., Greene,G.L. and Press,M.F. |
| Journal | BMC Cancer 9, 43 (2009) |
| Title | Role of the N-terminal activation domain of the coiled-coil coactivator in mediating transcriptional activation by beta-catenin . |
| Author | Yang,C.K., Kim,J.H. and Stallcup,M.R. |
| Journal | Mol. Endocrinol. 20 (12), 3251-3262 (2006) |
| Title | A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration . |
| Author | Lim,J., Hao,T., Shaw,C., Patel,A.J., Szabo,G., Rual,J.F., Fisk,C.J., Li,N., Smolyar,A., Hill,D.E., Barabasi,A.L., Vidal,M. and Zoghbi,H.Y. |
| Journal | Cell 125 (4), 801-814 (2006) |
| Title | Differential use of functional domains by coiled-coil coactivator in its synergistic coactivator function with beta-catenin or GRIP1 . |
| Author | Yang,C.K., Kim,J.H., Li,H. and Stallcup,M.R. |
| Journal | J. Biol. Chem. 281 (6), 3389-3397 (2006) |
| Title | The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts . |
| Author | Ozyildirim,A.M., Wistow,G.J., Gao,J., Wang,J., Dickinson,D.P., Frierson,H.F. Jr. and Laurie,G.W. |
| Journal | Invest. Ophthalmol. Vis. Sci. 46 (5), 1572-1580 (2005) |
| Title | Cellular signaling mediated by calphoglin-induced activation of IPP and PGM . |
| Author | Takahashi,K., Inuzuka,M. and Ingi,T. |
| Journal | Biochem. Biophys. Res. Commun. 325 (1), 203-214 (2004) |
| Title | The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment . |
| Author | Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J., Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B., Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E., Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S., Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C., Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V., Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K., Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z., Goddard,A., Wood,W.I., Godowski,P. and Gray,A. |
| Journal | Genome Res. 13 (10), 2265-2270 (2003) |
| Title | Immunomic analysis of human sarcoma . |
| Author | Lee,S.Y., Obata,Y., Yoshida,M., Stockert,E., Williamson,B., Jungbluth,A.A., Chen,Y.T., Old,L.J. and Scanlan,M.J. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 100 (5), 2651-2656 (2003) |
| Title | Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing . |
| Author | Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and Wiemann,S. |
| Journal | EMBO Rep. 1 (3), 287-292 (2000) |
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