Home |
Help |
Advanced search
2024-04-18 23:58:00, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001144886 903 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 3, mRNA.
ACCESSION NM_001144886
VERSION NM_001144886.1 GI:222136689
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 903)
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 903)
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 903)
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 903)
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 903)
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 903)
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 903)
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 903)
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 903)
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 903)
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 AL135749.3, U65092.1 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 (3) differs in the 5' UTR compared
to variant 1. Both variants 1 and 3 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 :: U65092.1, BI666631.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-67 AL135749.3 121010-121076 c
68-515 U65092.1 35-482
516-516 AL135749.3 115906-115906 c
517-883 U65092.1 484-850
884-903 AI217516.1 1-20 c
FEATURES Location/Qualifiers
source 1..903
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xq13.1"
gene 1..903
/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..163
/gene="CITED1"
/gene_synonym="MSG1"
/inference="alignment:Splign:1.39.8"
misc_feature 88..90
/gene="CITED1"
/gene_synonym="MSG1"
/note="upstream in-frame stop codon"
exon 164..288
/gene="CITED1"
/gene_synonym="MSG1"
/inference="alignment:Splign:1.39.8"
CDS 229..810
/gene="CITED1"
/gene_synonym="MSG1"
/note="isoform 1 is encoded by transcript variant 3;
melanocyte-specific gene 1; melanocyte-specific protein 1"
/codon_start=1
/product="cbp/p300-interacting transactivator 1 isoform 1"
/protein_id="NP_001138358.1"
/db_xref="GI:222136690"
/db_xref="CCDS:CCDS14419.1"
/db_xref="GeneID:4435"
/db_xref="HGNC:1986"
/db_xref="MIM:300149"
/translation="
MPTTSRPALDVKGGTSPAKEDANQEMSSVAYSNLAVKDRKAVAILHYPGVASNGTKASGAPTSSSGSPIGSPTTTPPTKPPSFNLHPAPHLLASMHLQKLNSQYQGMAAATPGQPGEAGPLQNWDFGAQAGGAESLSPSAGAQSPAIIDSDPVDEEVLMSLVVELGLDRANELPELWLGQNEFDFTADFPSSC
"
misc_feature 229..801
/gene="CITED1"
/gene_synonym="MSG1"
/note="CITED; Region: CITED; pfam04487"
/db_xref="CDD:146896"
misc_feature 700..729
/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 289..895
/gene="CITED1"
/gene_synonym="MSG1"
/inference="alignment:Splign:1.39.8"
variation 516
/gene="CITED1"
/gene_synonym="MSG1"
/replace="c"
/replace="g"
/db_xref="dbSNP:3012627"
variation 585
/gene="CITED1"
/gene_synonym="MSG1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1804686"
variation 594
/gene="CITED1"
/gene_synonym="MSG1"
/replace="a"
/replace="t"
/db_xref="dbSNP:13669"
STS 697..834
/gene="CITED1"
/gene_synonym="MSG1"
/standard_name="RH35925"
/db_xref="UniSTS:36969"
STS 727..855
/gene="CITED1"
/gene_synonym="MSG1"
/standard_name="SGC35157"
/db_xref="UniSTS:7742"
variation 845
/gene="CITED1"
/gene_synonym="MSG1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1047458"
polyA_signal 866..871
/gene="CITED1"
/gene_synonym="MSG1"
polyA_site 895
/gene="CITED1"
/gene_synonym="MSG1"
ORIGIN
ctataaaaatgtgcccggcggcaaagctgcagaaggggcaccgctgagctgccgagaggaagctcgctctgcccggctgccctcttgtagtccgccggcgaggggcagttctcggtgaggaggaagagagcagcggacggcacagcacccgcgcgggccctcccacaacagctccagctggcagcatcacttcccgccaatttatccaacttctgccaaggctctgaaatgccaacaacgtcgaggcctgcacttgatgtcaagggtggcacctcacctgcgaaggaggatgccaaccaagagatgagctccgtggcctactccaaccttgcggtgaaagatcgcaaagcagtggccattctgcactaccctggggtagcctcaaatggaaccaaggccagtggggctcccactagttcctcgggatctccaataggctctcctacaaccacccctcccactaaacccccatccttcaacctgcaccccgcccctcacttgctggctagtatgcacctgcagaaacttaatagccagtatcaggggatggctgctgccactccaggccaacccggggaggcaggacccctgcaaaactgggactttggggcccaggcgggaggggcagaatcactctctccttctgctggtgcccagagccctgctatcatcgattcggacccagtggatgaggaagtgctgatgtcgctggtggtggaactggggttggaccgagccaatgagcttccggagctgtggctggggcagaatgagtttgacttcactgcggactttccatctagctgctaatgccaagtgtccctaaagatggaggaataaagccaccaattctgttgtaaataaaaataaagttacttacaaagagacgggccaaaaaaaaaa
//
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
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.