2024-04-26 22:03:33, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001190265 1294 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens C1D nuclear receptor corepressor (C1D), transcript variant 4, mRNA. ACCESSION NM_001190265 VERSION NM_001190265.1 GI:298231255 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 1294) AUTHORS Han,S., Lan,Q., Park,A.K., Lee,K.M., Park,S.K., Ahn,H.S., Shin,H.Y., Kang,H.J., Koo,H.H., Seo,J.J., Choi,J.E., Ahn,Y.O., Chanock,S.J., Kim,H., Rothman,N. and Kang,D. TITLE Polymorphisms in innate immunity genes and risk of childhood leukemia JOURNAL Hum. Immunol. 71 (7), 727-730 (2010) PUBMED 20438785 REMARK GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) REFERENCE 2 (bases 1 to 1294) AUTHORS Li,G., Liu,J., Abu-Asab,M., Masabumi,S. and Maru,Y. TITLE XPB induces C1D expression to counteract UV-induced apoptosis JOURNAL Mol. Cancer Res. 8 (6), 885-895 (2010) PUBMED 20530579 REMARK GeneRIF: C1D is associated with the DNA repair complex and may promote repair of ultraviolet irradiation-induced DNA damage. REFERENCE 3 (bases 1 to 1294) AUTHORS Rajaraman,P., Brenner,A.V., Neta,G., Pfeiffer,R., Wang,S.S., Yeager,M., Thomas,G., Fine,H.A., Linet,M.S., Rothman,N., Chanock,S.J. and Inskip,P.D. TITLE Risk of meningioma and common variation in genes related to innate immunity JOURNAL Cancer Epidemiol. Biomarkers Prev. 19 (5), 1356-1361 (2010) PUBMED 20406964 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (bases 1 to 1294) AUTHORS Rajaraman,P., Brenner,A.V., Butler,M.A., Wang,S.S., Pfeiffer,R.M., Ruder,A.M., Linet,M.S., Yeager,M., Wang,Z., Orr,N., Fine,H.A., Kwon,D., Thomas,G., Rothman,N., Inskip,P.D. and Chanock,S.J. TITLE Common variation in genes related to innate immunity and risk of adult glioma JOURNAL Cancer Epidemiol. Biomarkers Prev. 18 (5), 1651-1658 (2009) PUBMED 19423540 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (bases 1 to 1294) AUTHORS Schilders,G., Egberts,W.V., Raijmakers,R. and Pruijn,G.J. TITLE C1D is a major autoantibody target in patients with the polymyositis-scleroderma overlap syndrome JOURNAL Arthritis Rheum. 56 (7), 2449-2454 (2007) PUBMED 17599775 REMARK GeneRIF: Anti-C1D autoantibodies were observed in patients with polymyositis-scleroderma overlap syndrome. REFERENCE 6 (bases 1 to 1294) AUTHORS Rothbarth,K., Spiess,E., Juodka,B., Yavuzer,U., Nehls,P., Stammer,H. and Werner,D. TITLE Induction of apoptosis by overexpression of the DNA-binding and DNA-PK-activating protein C1D JOURNAL J. Cell. Sci. 112 (PT 13), 2223-2232 (1999) PUBMED 10362552 REFERENCE 7 (bases 1 to 1294) AUTHORS Yavuzer,U., Smith,G.C., Bliss,T., Werner,D. and Jackson,S.P. TITLE DNA end-independent activation of DNA-PK mediated via association with the DNA-binding protein C1D JOURNAL Genes Dev. 12 (14), 2188-2199 (1998) PUBMED 9679063 REMARK GeneRIF: The C1D protein interacts with the catalytic subunit of DNA-PK and is a very effective substrate for DNA-PK in vitro. Moreover, C1D directs the activation of DNA-PK in a manner that does not require DNA termini, suggesting a role for C1D in DNA repair. REFERENCE 8 (bases 1 to 1294) AUTHORS Haataja,L., Groffen,J. and Heisterkamp,N. TITLE Identification of a novel Rac3-interacting protein C1D JOURNAL Int. J. Mol. Med. 1 (4), 665-670 (1998) PUBMED 9852280 REFERENCE 9 (bases 1 to 1294) AUTHORS Nehls,P., Keck,T., Greferath,R., Spiess,E., Glaser,T., Rothbarth,K., Stammer,H. and Werner,D. TITLE cDNA cloning, recombinant expression and characterization of polypetides with exceptional DNA affinity JOURNAL Nucleic Acids Res. 26 (5), 1160-1166 (1998) PUBMED 9469821 REFERENCE 10 (bases 1 to 1294) AUTHORS Zamir,I., Dawson,J., Lavinsky,R.M., Glass,C.K., Rosenfeld,M.G. and Lazar,M.A. TITLE Cloning and characterization of a corepressor and potential component of the nuclear hormone receptor repression complex JOURNAL Proc. Natl. Acad. Sci. U.S.A. 94 (26), 14400-14405 (1997) PUBMED 9405624 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BG505686.1, DA900336.1, AC079112.4 and AI004680.1. Summary: The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Alternate splicing results in multiple transcript variants that encode the same protein. Multiple pseudogenes of this gene are found on chromosome 10.[provided by RefSeq, Jun 2010]. Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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. ##Evidence-Data-START## Transcript exon combination :: BI545555.1, BG566044.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-23 BG505686.1 1-23 24-484 DA900336.1 1-461 485-715 AC079112.4 116168-116398 c 716-1294 AI004680.1 1-579 c FEATURES Location/Qualifiers source 1..1294 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2p13-p12" gene 1..1294 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /note="C1D nuclear receptor corepressor" /db_xref="GeneID:10438" /db_xref="HGNC:29911" /db_xref="MIM:606997" exon 1..83 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /inference="alignment:Splign:1.39.8" misc_feature 80..82 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /note="upstream in-frame stop codon" exon 84..160 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /inference="alignment:Splign:1.39.8" exon 161..307 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /inference="alignment:Splign:1.39.8" CDS 170..595 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /note="C1D nuclear receptor co-repressor; small unique nuclear receptor co-repressor; nuclear DNA-binding protein; small unique nuclear receptor corepressor; C1D DNA-binding protein" /codon_start=1 /product="nuclear nucleic acid-binding protein C1D" /protein_id="NP_001177194.1" /db_xref="GI:298231256" /db_xref="CCDS:CCDS1883.1" /db_xref="GeneID:10438" /db_xref="HGNC:29911" /db_xref="MIM:606997" /translation="
MAGEEINEDYPVEIHEYLSAFENSIGAVDEMLKTMMSVSRNELLQKLDPLEQAKVDLVSAYTLNSMFWVYLATQGVNPKEHPVKQELERIRVYMNRVKEITDKKKAGKLDRGAASRFVKNALWEPKSKNASKVANKGKSKS
" misc_feature 170..469 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q13901.1); Region: Required for transcriptional repression (By similarity)" misc_feature 218..457 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /note="Sas10/Utp3/C1D family; Region: Sas10_Utp3; pfam04000" /db_xref="CDD:202850" misc_feature 317..469 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q13901.1); Region: Interaction with NR1D1 (By similarity)" misc_feature 467..592 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q13901.1); Region: Interaction with NCOR1 and NCOR2 (By similarity)" STS 170..316 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /standard_name="PMC24996P1" /db_xref="UniSTS:272278" exon 308..374 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /inference="alignment:Splign:1.39.8" exon 375..430 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /inference="alignment:Splign:1.39.8" exon 431..1284 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /inference="alignment:Splign:1.39.8" variation 548 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /replace="c" /replace="t" /db_xref="dbSNP:10444" STS 942..1149 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /standard_name="RH40315" /db_xref="UniSTS:85797" STS 1128..1277 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /standard_name="G23952" /db_xref="UniSTS:2406" STS 1148..1272 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" /standard_name="RH69539" /db_xref="UniSTS:86905" polyA_signal 1256..1261 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" polyA_site 1284 /gene="C1D" /gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR" ORIGIN
agagccggcgcgtcattgtcgtcatcgttgcccgaccgctttccgggagactggagtcgaaggccgtgaggtatttttctaagccagtgttttagaaggagtatgtggaagggcaaggagtacctatagaaccccggaggagggtgaggagcagagctggtcagccataatggcaggtgaagaaattaatgaagactatccagtagaaattcacgagtatttgtcagcgtttgagaattccattggtgctgtggatgagatgctgaagaccatgatgtctgtttctagaaatgagttgttgcagaagttggatccacttgaacaagcaaaagtggatttggtttctgcatacacattaaattcaatgttttgggtttatttggcaacccaaggagttaatcctaaggaacatccagtaaaacaggaattggaaagaatcagagtatatatgaacagagtcaaggaaataacagacaagaaaaaggctggcaagctggacagaggtgcagcttcaagatttgtaaaaaatgccctctgggaaccaaaatcgaaaaatgcatcaaaagttgccaataaaggaaaaagtaaaagttaactttttggttttgatgtacacatattcaaaaagtacatcttcccccccccccccccccccgcaaaataattctgtggcagggcaaggtttaaatgtgtttcttattaatatgtaaattcacagtaaatatgtaaagctaaatactttcctctccaaagatcattatctttattgattagcactgaggattttaacattgtgatatattatatatttataatttaccatctcttgatgagactcttatttctttatataggtcagtcttgcaagtaccattttataagcagctgtgaaatttaagtgaaatgttctttgtaaacatttgtactattttaaatgaataatgaccttatgaagtatgctatctgtaggctgaaattataggtacatctgttttcactatatgatattaagaaagcgtgaaatgacttaaatgttcatttttttctgtatagatactttatcatgttttcatgattttaggaattactgctttgttgatattcaaagtgtgaaactaaaactttatggttgtactttaattcttggcatgttgcctctatgtcccatttaaaataaaatacattctcattaactttagatgggaaataaggttgtatgttgatggatgaattttggcatgatgactgtactctcaataaaggctgaaaatgttgtataactgaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10438 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA GeneID:10438 -> Molecular function: GO:0003714 [transcription corepressor activity] evidence: IEA GeneID:10438 -> Molecular function: GO:0003723 [RNA binding] evidence: IDA GeneID:10438 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:10438 -> Molecular function: GO:0016922 [ligand-dependent nuclear receptor binding] evidence: IEA GeneID:10438 -> Biological process: GO:0000460 [maturation of 5.8S rRNA] evidence: IMP GeneID:10438 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:10438 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:10438 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IEA GeneID:10438 -> Cellular component: GO:0000176 [nuclear exosome (RNase complex)] evidence: TAS GeneID:10438 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:10438 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA GeneID:10438 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA GeneID:10438 -> Cellular component: GO:0017053 [transcriptional repressor complex] evidence: IEA
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