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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
//

Annotations:

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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