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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
//

Annotations:

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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