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2024-04-25 20:26:39, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001190263 1281 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens C1D nuclear receptor corepressor (C1D), transcript
variant 3, mRNA.
ACCESSION NM_001190263
VERSION NM_001190263.1 GI:298231252
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 1281)
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 1281)
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 1281)
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 1281)
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 1281)
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 1281)
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 1281)
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 1281)
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 1281)
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 1281)
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, AK290451.1,
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 (3) 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 :: AK290451.1, DA486654.1 [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
1-17 BG505686.1 1-17
18-381 AK290451.1 1-364
382-382 AC079112.4 119422-119422 c
383-599 AK290451.1 366-582
600-702 AC079112.4 116168-116270 c
703-1281 AI004680.1 1-579 c
FEATURES Location/Qualifiers
source 1..1281
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p13-p12"
gene 1..1281
/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..70
/gene="C1D"
/gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR"
/inference="alignment:Splign:1.39.8"
misc_feature 67..69
/gene="C1D"
/gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR"
/note="upstream in-frame stop codon"
exon 71..147
/gene="C1D"
/gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR"
/inference="alignment:Splign:1.39.8"
exon 148..294
/gene="C1D"
/gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR"
/inference="alignment:Splign:1.39.8"
CDS 157..582
/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_001177192.1"
/db_xref="GI:298231253"
/db_xref="CCDS:CCDS1883.1"
/db_xref="GeneID:10438"
/db_xref="HGNC:29911"
/db_xref="MIM:606997"
/translation="
MAGEEINEDYPVEIHEYLSAFENSIGAVDEMLKTMMSVSRNELLQKLDPLEQAKVDLVSAYTLNSMFWVYLATQGVNPKEHPVKQELERIRVYMNRVKEITDKKKAGKLDRGAASRFVKNALWEPKSKNASKVANKGKSKS
"
misc_feature 157..456
/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 205..444
/gene="C1D"
/gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR"
/note="Sas10/Utp3/C1D family; Region: Sas10_Utp3;
pfam04000"
/db_xref="CDD:202850"
misc_feature 304..456
/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 454..579
/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 157..303
/gene="C1D"
/gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR"
/standard_name="PMC24996P1"
/db_xref="UniSTS:272278"
exon 295..361
/gene="C1D"
/gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR"
/inference="alignment:Splign:1.39.8"
exon 362..417
/gene="C1D"
/gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR"
/inference="alignment:Splign:1.39.8"
exon 418..1271
/gene="C1D"
/gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR"
/inference="alignment:Splign:1.39.8"
variation 535
/gene="C1D"
/gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR"
/replace="c"
/replace="t"
/db_xref="dbSNP:10444"
STS 929..1136
/gene="C1D"
/gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR"
/standard_name="RH40315"
/db_xref="UniSTS:85797"
STS 1115..1264
/gene="C1D"
/gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR"
/standard_name="G23952"
/db_xref="UniSTS:2406"
STS 1135..1259
/gene="C1D"
/gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR"
/standard_name="RH69539"
/db_xref="UniSTS:86905"
polyA_signal 1243..1248
/gene="C1D"
/gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR"
polyA_site 1271
/gene="C1D"
/gene_synonym="hC1D; LRP1; SUN-CoR; SUNCOR"
ORIGIN
agagccggcgcgtcattgtcgtcatcgttgcccgaccgctttccgggagactggagtcgaaggccgtgagccagtgttttagaaggagtatgtggaagggcaaggagtacctatagaaccccggaggagggtgaggagcagagctggtcagccataatggcaggtgaagaaattaatgaagactatccagtagaaattcacgagtatttgtcagcgtttgagaattccattggtgctgtggatgagatgctgaagaccatgatgtctgtttctagaaatgagttgttgcagaagttggatccacttgaacaagcaaaagtggatttggtttctgcatacacattaaattcaatgttttgggtttatttggcaacccaaggagttaatcctaaggaacatccagtaaaacaggaattggaaagaatcagagtatatatgaacagagtcaaggaaataacagacaagaaaaaggctggcaagctggacagaggtgcagcttcaagatttgtaaaaaatgccctctgggaaccaaaatcgaaaaatgcatcaaaagttgccaataaaggaaaaagtaaaagttaactttttggttttgatgtacacatattcaaaaagtacatcttcccccccccccccccccccgcaaaataattctgtggcagggcaaggtttaaatgtgtttcttattaatatgtaaattcacagtaaatatgtaaagctaaatactttcctctccaaagatcattatctttattgattagcactgaggattttaacattgtgatatattatatatttataatttaccatctcttgatgagactcttatttctttatataggtcagtcttgcaagtaccattttataagcagctgtgaaatttaagtgaaatgttctttgtaaacatttgtactattttaaatgaataatgaccttatgaagtatgctatctgtaggctgaaattataggtacatctgttttcactatatgatattaagaaagcgtgaaatgacttaaatgttcatttttttctgtatagatactttatcatgttttcatgattttaggaattactgctttgttgatattcaaagtgtgaaactaaaactttatggttgtactttaattcttggcatgttgcctctatgtcccatttaaaataaaatacattctcattaactttagatgggaaataaggttgtatgttgatggatgaattttggcatgatgactgtactctcaataaaggctgaaaatgttgtataactgaaaaaaaaaaa
//
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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