2024-03-29 20:22:31, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001144887 830 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 (CITED1), transcript variant 4, mRNA. ACCESSION NM_001144887 VERSION NM_001144887.1 GI:222136691 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 830) AUTHORS Murphy,A.J., Pierce,J., de Caestecker,C., Taylor,C., Anderson,J.R., Perantoni,A.O., de Caestecker,M.P. and Lovvorn,H.N. III. TITLE SIX2 and CITED1, markers of nephronic progenitor self-renewal, remain active in primitive elements of Wilms' tumor JOURNAL J. Pediatr. Surg. 47 (6), 1239-1249 (2012) PUBMED 22703800 REMARK GeneRIF: CITED1 expression remains active across all disease characteristics of Wilms tumor. It is found in the nucleus & cytosol. It is not found in normal kidney. REFERENCE 2 (bases 1 to 830) AUTHORS Sassa,M., Hayashi,Y., Watanabe,R., Kikumori,T., Imai,T., Kurebayashi,J., Kiuchi,T. and Murata,Y. TITLE Aberrant promoter methylation in overexpression of CITED1 in papillary thyroid cancer JOURNAL Thyroid 21 (5), 511-517 (2011) PUBMED 21449767 REMARK GeneRIF: epigenetic regulation is involved in the overexpression of CITED1 in papillary thyroid cancer REFERENCE 3 (bases 1 to 830) AUTHORS Dittmer,S., Kovacs,Z., Yuan,S.H., Siszler,G., Kogl,M., Summer,H., Geerts,A., Golz,S., Shioda,T. and Methner,A. TITLE TOX3 is a neuronal survival factor that induces transcription depending on the presence of CITED1 or phosphorylated CREB in the transcriptionally active complex JOURNAL J. Cell. Sci. 124 (PT 2), 252-260 (2011) PUBMED 21172805 REMARK GeneRIF: TOX3 induces transcription in neuron depending on the presence of CITED1 or phosphorylated CREB in the transcriptionally active complex. REFERENCE 4 (bases 1 to 830) AUTHORS Dillon,R.L., Brown,S.T., Ling,C., Shioda,T. and Muller,W.J. TITLE An EGR2/CITED1 transcription factor complex and the 14-3-3sigma tumor suppressor are involved in regulating ErbB2 expression in a transgenic-mouse model of human breast cancer JOURNAL Mol. Cell. Biol. 27 (24), 8648-8657 (2007) PUBMED 17938205 REFERENCE 5 (bases 1 to 830) AUTHORS Vachtenheim,J. and Novotna,H. TITLE Expression of genes for microphthalmia isoforms, Pax3 and MSG1, in human melanomas JOURNAL Cell. Mol. Biol. (Noisy-le-grand) 45 (7), 1075-1082 (1999) PUBMED 10644012 REFERENCE 6 (bases 1 to 830) AUTHORS Shioda,T., Lechleider,R.J., Dunwoodie,S.L., Li,H., Yahata,T., de Caestecker,M.P., Fenner,M.H., Roberts,A.B. and Isselbacher,K.J. TITLE Transcriptional activating activity of Smad4: roles of SMAD hetero-oligomerization and enhancement by an associating transactivator JOURNAL Proc. Natl. Acad. Sci. U.S.A. 95 (17), 9785-9790 (1998) PUBMED 9707553 REFERENCE 7 (bases 1 to 830) AUTHORS Fenner,M.H., Parrish,J.E., Boyd,Y., Reed,V., MacDonald,M., Nelson,D.L., Isselbacher,K.J. and Shioda,T. TITLE MSG1 (melanocyte-specific gene 1): mapping to chromosome Xq13.1, genomic organization, and promoter analysis JOURNAL Genomics 51 (3), 401-407 (1998) PUBMED 9721210 REFERENCE 8 (bases 1 to 830) AUTHORS Li,H., Ahmed,N.U., Fenner,M.H., Ueda,M., Isselbacher,K.J. and Shioda,T. TITLE Regulation of expression of MSG1 melanocyte-specific nuclear protein in human melanocytes and melanoma cells JOURNAL Exp. Cell Res. 242 (2), 478-486 (1998) PUBMED 9683535 REFERENCE 9 (bases 1 to 830) AUTHORS Shioda,T., Fenner,M.H. and Isselbacher,K.J. TITLE MSG1 and its related protein MRG1 share a transcription activating domain JOURNAL Gene 204 (1-2), 235-241 (1997) PUBMED 9434189 REFERENCE 10 (bases 1 to 830) AUTHORS Shioda,T., Fenner,M.H. and Isselbacher,K.J. TITLE msg1, a novel melanocyte-specific gene, encodes a nuclear protein and is associated with pigmentation JOURNAL Proc. Natl. Acad. Sci. U.S.A. 93 (22), 12298-12303 (1996) PUBMED 8901575 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BP247232.1, AL135749.3, BC004240.1 and AI217516.1. Summary: This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]. Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Both variants 1 and 4 encode the same protein. 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 :: BP247232.1, AL544337.3 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025085 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-442 BP247232.1 1-442 443-443 AL135749.3 115906-115906 c 444-810 BC004240.1 818-1184 811-830 AI217516.1 1-20 c FEATURES Location/Qualifiers source 1..830 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="X" /map="Xq13.1" gene 1..830 /gene="CITED1" /gene_synonym="MSG1" /note="Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1" /db_xref="GeneID:4435" /db_xref="HGNC:1986" /db_xref="MIM:300149" exon 1..90 /gene="CITED1" /gene_synonym="MSG1" /inference="alignment:Splign:1.39.8" exon 91..215 /gene="CITED1" /gene_synonym="MSG1" /inference="alignment:Splign:1.39.8" CDS 156..737 /gene="CITED1" /gene_synonym="MSG1" /note="isoform 1 is encoded by transcript variant 4; melanocyte-specific gene 1; melanocyte-specific protein 1" /codon_start=1 /product="cbp/p300-interacting transactivator 1 isoform 1" /protein_id="NP_001138359.1" /db_xref="GI:222136692" /db_xref="CCDS:CCDS14419.1" /db_xref="GeneID:4435" /db_xref="HGNC:1986" /db_xref="MIM:300149" /translation="
MPTTSRPALDVKGGTSPAKEDANQEMSSVAYSNLAVKDRKAVAILHYPGVASNGTKASGAPTSSSGSPIGSPTTTPPTKPPSFNLHPAPHLLASMHLQKLNSQYQGMAAATPGQPGEAGPLQNWDFGAQAGGAESLSPSAGAQSPAIIDSDPVDEEVLMSLVVELGLDRANELPELWLGQNEFDFTADFPSSC
" misc_feature 156..728 /gene="CITED1" /gene_synonym="MSG1" /note="CITED; Region: CITED; pfam04487" /db_xref="CDD:146896" misc_feature 627..656 /gene="CITED1" /gene_synonym="MSG1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99966.2); Region: Nuclear export signal" exon 216..822 /gene="CITED1" /gene_synonym="MSG1" /inference="alignment:Splign:1.39.8" variation 443 /gene="CITED1" /gene_synonym="MSG1" /replace="c" /replace="g" /db_xref="dbSNP:3012627" variation 512 /gene="CITED1" /gene_synonym="MSG1" /replace="a" /replace="g" /db_xref="dbSNP:1804686" variation 521 /gene="CITED1" /gene_synonym="MSG1" /replace="a" /replace="t" /db_xref="dbSNP:13669" STS 624..761 /gene="CITED1" /gene_synonym="MSG1" /standard_name="RH35925" /db_xref="UniSTS:36969" STS 654..782 /gene="CITED1" /gene_synonym="MSG1" /standard_name="SGC35157" /db_xref="UniSTS:7742" variation 772 /gene="CITED1" /gene_synonym="MSG1" /replace="a" /replace="c" /db_xref="dbSNP:1047458" polyA_signal 793..798 /gene="CITED1" /gene_synonym="MSG1" polyA_site 822 /gene="CITED1" /gene_synonym="MSG1" ORIGIN
gagtccctgcttcgcagagcaccggacttggagtcagagagacctggctgcgaatcccggctccgccactttctagcgctgtgaccttggcacaacagctccagctggcagcatcacttcccgccaatttatccaacttctgccaaggctctgaaatgccaacaacgtcgaggcctgcacttgatgtcaagggtggcacctcacctgcgaaggaggatgccaaccaagagatgagctccgtggcctactccaaccttgcggtgaaagatcgcaaagcagtggccattctgcactaccctggggtagcctcaaatggaaccaaggccagtggggctcccactagttcctcgggatctccaataggctctcctacaaccacccctcccactaaacccccatccttcaacctgcaccccgcccctcacttgctggctagtatgcacctgcagaaacttaatagccagtatcaggggatggctgctgccactccaggccaacccggggaggcaggacccctgcaaaactgggactttggggcccaggcgggaggggcagaatcactctctccttctgctggtgcccagagccctgctatcatcgattcggacccagtggatgaggaagtgctgatgtcgctggtggtggaactggggttggaccgagccaatgagcttccggagctgtggctggggcagaatgagtttgacttcactgcggactttccatctagctgctaatgccaagtgtccctaaagatggaggaataaagccaccaattctgttgtaaataaaaataaagttacttacaaagagacgggccaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:4435 -> Molecular function: GO:0003682 [chromatin binding] evidence: ISS GeneID:4435 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: NAS GeneID:4435 -> Molecular function: GO:0003713 [transcription coactivator activity] evidence: IDA GeneID:4435 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:4435 -> Molecular function: GO:0008022 [protein C-terminus binding] evidence: IPI GeneID:4435 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IDA GeneID:4435 -> Molecular function: GO:0044212 [transcription regulatory region DNA binding] evidence: IDA GeneID:4435 -> Molecular function: GO:0050693 [LBD domain binding] evidence: IDA GeneID:4435 -> Molecular function: GO:0070410 [co-SMAD binding] evidence: IPI GeneID:4435 -> Biological process: GO:0000578 [embryonic axis specification] evidence: IEA GeneID:4435 -> Biological process: GO:0001570 [vasculogenesis] evidence: IEA GeneID:4435 -> Biological process: GO:0001656 [metanephros development] evidence: TAS GeneID:4435 -> Biological process: GO:0001658 [branching involved in ureteric bud morphogenesis] evidence: ISS GeneID:4435 -> Biological process: GO:0001890 [placenta development] evidence: ISS GeneID:4435 -> Biological process: GO:0003340 [negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis] evidence: IEA GeneID:4435 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:4435 -> Biological process: GO:0006357 [regulation of transcription from RNA polymerase II promoter] evidence: TAS GeneID:4435 -> Biological process: GO:0006913 [nucleocytoplasmic transport] evidence: IDA GeneID:4435 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:4435 -> Biological process: GO:0007179 [transforming growth factor beta receptor signaling pathway] evidence: IDA GeneID:4435 -> Biological process: GO:0007420 [brain development] evidence: IEA GeneID:4435 -> Biological process: GO:0008283 [cell proliferation] evidence: TAS GeneID:4435 -> Biological process: GO:0010628 [positive regulation of gene expression] evidence: ISS GeneID:4435 -> Biological process: GO:0030178 [negative regulation of Wnt receptor signaling pathway] evidence: TAS GeneID:4435 -> Biological process: GO:0030318 [melanocyte differentiation] evidence: IMP GeneID:4435 -> Biological process: GO:0030511 [positive regulation of transforming growth factor beta receptor signaling pathway] evidence: TAS GeneID:4435 -> Biological process: GO:0032496 [response to lipopolysaccharide] evidence: ISS GeneID:4435 -> Biological process: GO:0032868 [response to insulin stimulus] evidence: ISS GeneID:4435 -> Biological process: GO:0034097 [response to cytokine stimulus] evidence: ISS GeneID:4435 -> Biological process: GO:0034341 [response to interferon-gamma] evidence: ISS GeneID:4435 -> Biological process: GO:0042438 [melanin biosynthetic process] evidence: ISS GeneID:4435 -> Biological process: GO:0043473 [pigmentation] evidence: IMP GeneID:4435 -> Biological process: GO:0043524 [negative regulation of neuron apoptotic process] evidence: IDA GeneID:4435 -> Biological process: GO:0043627 [response to estrogen stimulus] evidence: IDA GeneID:4435 -> Biological process: GO:0043627 [response to estrogen stimulus] evidence: TAS GeneID:4435 -> Biological process: GO:0045668 [negative regulation of osteoblast differentiation] evidence: ISS GeneID:4435 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IDA GeneID:4435 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: ISS GeneID:4435 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IDA GeneID:4435 -> Biological process: GO:0051591 [response to cAMP] evidence: ISS GeneID:4435 -> Biological process: GO:0060231 [mesenchymal to epithelial transition] evidence: TAS GeneID:4435 -> Biological process: GO:0060395 [SMAD protein signal transduction] evidence: IDA GeneID:4435 -> Biological process: GO:0060711 [labyrinthine layer development] evidence: IEA GeneID:4435 -> Biological process: GO:0060712 [spongiotrophoblast layer development] evidence: IEA GeneID:4435 -> Biological process: GO:0070555 [response to interleukin-1] evidence: ISS GeneID:4435 -> Biological process: GO:0070669 [response to interleukin-2] evidence: ISS GeneID:4435 -> Biological process: GO:0070670 [response to interleukin-4] evidence: ISS GeneID:4435 -> Biological process: GO:0070741 [response to interleukin-6] evidence: ISS GeneID:4435 -> Biological process: GO:0071104 [response to interleukin-9] evidence: ISS GeneID:4435 -> Biological process: GO:0071105 [response to interleukin-11] evidence: ISS GeneID:4435 -> Biological process: GO:0071107 [response to parathyroid hormone stimulus] evidence: ISS GeneID:4435 -> Biological process: GO:0071559 [response to transforming growth factor beta stimulus] evidence: IDA GeneID:4435 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:4435 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:4435 -> Cellular component: GO:0005829 [cytosol] evidence: IDA
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