2024-03-29 04:50:44, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_020130 1841 bp mRNA linear PRI 21-APR-2013 DEFINITION Homo sapiens chromosome 8 open reading frame 4 (C8orf4), mRNA. ACCESSION NM_020130 VERSION NM_020130.4 GI:356582235 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 1841) AUTHORS Xu,H.T., Liu,Y., Liu,S.L., Miao,Y., Li,Q.C. and Wang,E.H. TITLE TC-1 (C8orf4) expression is correlated with differentiation in ovarian carcinomas and might distinguish metastatic ovarian from metastatic colorectal carcinomas JOURNAL Virchows Arch. 462 (3), 281-287 (2013) PUBMED 23377761 REMARK GeneRIF: The higher expression of TC-1 in ovarian compared to colorectal adenocarcinomas suggests its potential use as a marker REFERENCE 2 (bases 1 to 1841) AUTHORS Chung,S.J., Armasu,S.M., Biernacka,J.M., Anderson,K.J., Lesnick,T.G., Rider,D.N., Cunningham,J.M., Eric Ahlskog,J., Frigerio,R. and Maraganore,D.M. TITLE Genomic determinants of motor and cognitive outcomes in Parkinson's disease JOURNAL Parkinsonism Relat. Disord. 18 (7), 881-886 (2012) PUBMED 22658654 REMARK GeneRIF: The SNP rs10958605 in the C8orf4 gene had the smallest p value in analyses of the motor outcome. REFERENCE 3 (bases 1 to 1841) AUTHORS Zhang,J., Gao,Y., Zhao,X., Guan,M., Zhang,W., Wan,J. and Yu,B. TITLE Investigation of copy-number variations of C8orf4 in hematological malignancies JOURNAL Med. Oncol. 28 (SUPPL 1), S647-S652 (2011) PUBMED 20878554 REMARK GeneRIF: A significant association was found between the copy-number deletions of C8orf4 and the risk of hematological malignancies. REFERENCE 4 (bases 1 to 1841) AUTHORS Kim,J., Kim,Y., Kim,H.T., Kim,D.W., Ha,Y., Kim,J., Kim,C.H., Lee,I. and Song,K. TITLE TC1(C8orf4) is a novel endothelial inflammatory regulator enhancing NF-kappaB activity JOURNAL J. Immunol. 183 (6), 3996-4002 (2009) PUBMED 19684084 REFERENCE 5 (bases 1 to 1841) AUTHORS Wang,Y.D., Bian,G.H., Lv,X.Y., Zheng,R., Sun,H., Zhang,Z., Chen,Y., Li,Q.W., Xiao,Y., Yang,Q.T., Ai,J.Z., Wei,Y.Q. and Zhou,Q. TITLE TC1 (C8orf4) is involved in ERK1/2 pathway-regulated G(1)- to S-phase transition JOURNAL BMB Rep 41 (10), 733-738 (2008) PUBMED 18959821 REMARK GeneRIF: TC1 was involved in the mitogen-activated ERK1/2 signaling pathway and positively regulated G(1)- to S-phase transition of the cell cycle. REFERENCE 6 (bases 1 to 1841) AUTHORS Yang,Z.Q., Moffa,A.B., Haddad,R., Streicher,K.L. and Ethier,S.P. TITLE Transforming properties of TC-1 in human breast cancer: interaction with FGFR2 and beta-catenin signaling pathways JOURNAL Int. J. Cancer 121 (6), 1265-1273 (2007) PUBMED 17520678 REMARK GeneRIF: TC-1 over expression is transforming and may link with the FGFR pathway in a subset of breast cancer. REFERENCE 7 (bases 1 to 1841) AUTHORS Jung,Y., Bang,S., Choi,K., Kim,E., Kim,Y., Kim,J., Park,J., Koo,H., Moon,R.T., Song,K. and Lee,I. TITLE TC1 (C8orf4) enhances the Wnt/beta-catenin pathway by relieving antagonistic activity of Chibby JOURNAL Cancer Res. 66 (2), 723-728 (2006) PUBMED 16424001 REMARK GeneRIF: data indicate that TC1 is a novel upstream regulator of the Wnt/beta-catenin pathway that enhances aggressive behavior of cancers REFERENCE 8 (bases 1 to 1841) AUTHORS Friedman,J.B., Brunschwig,E.B., Platzer,P., Wilson,K. and Markowitz,S.D. TITLE C8orf4 is a transforming growth factor B induced transcript downregulated in metastatic colon cancer JOURNAL Int. J. Cancer 111 (1), 72-75 (2004) PUBMED 15185345 REFERENCE 9 (bases 1 to 1841) AUTHORS Sunde,M., McGrath,K.C., Young,L., Matthews,J.M., Chua,E.L., Mackay,J.P. and Death,A.K. TITLE TC-1 is a novel tumorigenic and natively disordered protein associated with thyroid cancer JOURNAL Cancer Res. 64 (8), 2766-2773 (2004) PUBMED 15087392 REMARK GeneRIF: Overexpression of TC-1 may be important in thyroid carcinogenesis. REFERENCE 10 (bases 1 to 1841) AUTHORS Chua,E.L., Young,L., Wu,W.M., Turtle,J.R. and Dong,Q. TITLE Cloning of TC-1 (C8orf4), a novel gene found to be overexpressed in thyroid cancer JOURNAL Genomics 69 (3), 342-347 (2000) PUBMED 11056052 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC021672.1, BX434108.2, AI861861.1 and AI935347.1. On Nov 9, 2011 this sequence version replaced gi:117938275. Summary: This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. The encoded protein may also play a role in the NF-kappaB and ERK1/2 signaling pathways. Expression of this gene may play a role in the proliferation of several types of cancer including thyroid cancer, breast cancer and hematological malignancies. [provided by RefSeq, Nov 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. COMPLETENESS: full length. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-796 BC021672.1 5-800 797-1280 BX434108.2 36-519 c 1281-1457 BC021672.1 1284-1460 1458-1835 AI861861.1 1-378 c 1836-1841 AI935347.1 7-12 c FEATURES Location/Qualifiers source 1..1841 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="8" /map="8p11.2" gene 1..1841 /gene="C8orf4" /gene_synonym="TC-1; TC1" /note="chromosome 8 open reading frame 4" /db_xref="GeneID:56892" /db_xref="HGNC:1357" /db_xref="HPRD:09650" /db_xref="MIM:607702" exon 1..1841 /gene="C8orf4" /gene_synonym="TC-1; TC1" /inference="alignment:Splign:1.39.8" misc_feature 17 /gene="C8orf4" /gene_synonym="TC-1; TC1" /note="major transcription initiation site" variation 17 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="t" /db_xref="dbSNP:182358217" variation 48 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="c" /replace="t" /db_xref="dbSNP:200396747" variation 53 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:200284520" CDS 66..386 /gene="C8orf4" /gene_synonym="TC-1; TC1" /note="human thyroid cancer 1; thyroid cancer protein 1" /codon_start=1 /product="uncharacterized protein C8orf4" /protein_id="NP_064515.1" /db_xref="GI:9910148" /db_xref="CCDS:CCDS6115.1" /db_xref="GeneID:56892" /db_xref="HGNC:1357" /db_xref="HPRD:09650" /db_xref="MIM:607702" /translation="
MKAKRSHQAIIMSTSLRVSPSIHGYHFDTASRKKAVGNIFENTDQESLERLFRNSGDKKAEERAKIIFAIDQDVEEKTRALMALKKRTKDKLFQFLKLRKYSIKVH
" variation 78 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:369320336" variation 93 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:6474226" variation 103 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="c" /replace="t" /db_xref="dbSNP:1129246" variation 150 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:367776739" variation 159 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="c" /replace="t" /db_xref="dbSNP:370896349" variation 160 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:146758200" variation 164 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:140361573" variation 190 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="" /replace="a" /db_xref="dbSNP:35273913" variation 200 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="t" /db_xref="dbSNP:11551219" variation 201 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="c" /db_xref="dbSNP:10353" variation 203 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="c" /db_xref="dbSNP:150354849" variation 210 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="c" /replace="g" /db_xref="dbSNP:138020803" variation 247 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="c" /db_xref="dbSNP:149080034" variation 271 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="c" /replace="g" /db_xref="dbSNP:375552987" variation 276 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:372605859" variation 298 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="c" /replace="t" /db_xref="dbSNP:373927057" variation 299 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:75030906" variation 301 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:185652259" variation 308 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="c" /replace="g" /db_xref="dbSNP:143097437" variation 328 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="c" /db_xref="dbSNP:11551220" variation 360 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="c" /replace="t" /db_xref="dbSNP:199595919" variation 374 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="c" /replace="t" /db_xref="dbSNP:373267734" variation 383 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="c" /replace="t" /db_xref="dbSNP:376875767" variation 385 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="g" /replace="t" /db_xref="dbSNP:142723940" variation 408 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="c" /replace="t" /db_xref="dbSNP:371562841" variation 409 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:201666828" variation 423 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:144983731" variation 444 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="t" /db_xref="dbSNP:191536462" variation 616 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:113177600" variation 646 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="c" /replace="t" /db_xref="dbSNP:73674781" variation 647 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:142049509" variation 717 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="c" /replace="t" /db_xref="dbSNP:115592049" variation 722 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:146317687" variation 735 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="t" /db_xref="dbSNP:183422301" variation 782 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="" /replace="t" /db_xref="dbSNP:10712630" variation 795..796 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="" /replace="ttt" /db_xref="dbSNP:76934299" variation 797 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="t" /db_xref="dbSNP:368067385" variation 807 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="g" /replace="t" /db_xref="dbSNP:34387151" variation 830..831 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="" /replace="g" /db_xref="dbSNP:35577336" variation 880 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:188825463" variation 1017 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="c" /db_xref="dbSNP:16888883" STS 1059..1247 /gene="C8orf4" /gene_synonym="TC-1; TC1" /standard_name="RH102985" /db_xref="UniSTS:97319" variation 1069 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="c" /replace="g" /db_xref="dbSNP:75539925" variation 1077 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:10199" variation 1087 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:202167931" variation 1107 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="c" /db_xref="dbSNP:1046868" variation 1139 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="c" /replace="t" /db_xref="dbSNP:141715923" variation 1227 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="g" /replace="t" /db_xref="dbSNP:192923736" polyA_signal 1324..1329 /gene="C8orf4" /gene_synonym="TC-1; TC1" polyA_site 1342 /gene="C8orf4" /gene_synonym="TC-1; TC1" variation 1366 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="t" /db_xref="dbSNP:183068197" variation 1419 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:73606287" variation 1425 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:150597368" polyA_signal 1436..1441 /gene="C8orf4" /gene_synonym="TC-1; TC1" polyA_site 1457 /gene="C8orf4" /gene_synonym="TC-1; TC1" variation 1462 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="c" /replace="t" /db_xref="dbSNP:115939299" variation 1676 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:187836628" variation 1698 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="c" /replace="g" /db_xref="dbSNP:28672910" variation 1729 /gene="C8orf4" /gene_synonym="TC-1; TC1" /replace="a" /replace="g" /db_xref="dbSNP:191144811" ORIGIN
agaatgatttcactacagactctctggaaagcctgggagctgaattccggaagatccccacatcgatgaaagcaaagcgaagccaccaagccatcatcatgtccacgtcgctacgagtcagcccatccatccatggctaccacttcgacacagcctctcgtaagaaagccgtgggcaacatctttgaaaacacagaccaagaatcactagaaaggctcttcagaaactctggagacaagaaagcagaggagagagccaagatcatttttgccatagatcaagatgtggaggagaaaacgcgtgccctgatggccttgaagaagaggacaaaagacaagcttttccagtttctgaaactgcggaaatattccatcaaagttcactgaagagaagaggatggataaggacgttatccaagaatggacattcaaagaccaagtgagtttgtgagattctaacagatgcagcattttgctgctaccttacaagcttctcttctgtcaggactccagaggctggaaagggaccgggactggaaagggaccaggactgaacagactggttacaaagactccaaacaatttcatgccctgtgctgttacagaggagaacaaaatgctttcagcaaggatttgaaaactcttccgtccctgcaggaaaggattgatgctgatagaagagcctggacagatgtaatgagaactaaagaaaacagatggctggagatgacatttatccagggtcactttgtcaggccctaggacttaaatcgaagttgaacttttttttttttttttaaccaaatagataggggaagggaggagggagagggaggacagggagagaaaataccatgcataaattgtttactgaatttttatatctgagtgttcaaaatatttccaagcctgagtattgtctattggtatagatttttagaaatcaataattgattatttatttgcacttattacaatgcctgaaaaagtgcaccacatggatgttaagtagaaattcaagaaagtaagatgtcttcagcaactcagtaaaaccttacgccaccttttggtttgtaaaaggttttttatacatttcaaacaggttgcacaaaagttaaaataatggggtcttttataaatccaaagtactgtgaaaacattttacatattttttaaatcttctgactaatgctaaaacgtaatctaattaaatttcatacagttactgcagtaagcattaggaagtgaatatgatatacaaaatagtttataaagactctatagtttctataatttattttactggcaaatgtcatgcaacaataataaattattgtaaactttgtggcttttggtctgtgatgcttggtctcaaaggaaaaaataagatggtaaatgttgatatttacaaacttttctaaagatgtgtctctaacaataaaagttaattttagagtagttttatattaattaccaaactttttcaaaacaaattcttacgtcaaatatctgggaagtttctctgtcccaatcttaaaatataaaatatagatatagaagttcatagattgactccttggcatttctatttatgtatccattaaggatgagttttaaaaggctttctcttcatacttttgaaaaatttcttctatgattacagtagctatgtacatgtgtacatctatttttcccaagcaatatgttttgggtttagagtctgagtgatgaccaagattctgtgtgttactactgtttgtttaataggaacaaatatagaaataatattatctctttgcttatttcccgttaaaactataataaaatgtttctaggacagca
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:56892 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
by
@meso_cacase at
DBCLS
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