2025-05-09 20:00:03, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_170695 2264 bp mRNA linear PRI 18-JUL-2013 DEFINITION Homo sapiens TGFB-induced factor homeobox 1 (TGIF1), transcript variant 1, mRNA. ACCESSION NM_170695 VERSION NM_170695.3 GI:522838230 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 2264) AUTHORS Valton,J., Dupuy,A., Daboussi,F., Thomas,S., Marechal,A., Macmaster,R., Melliand,K., Juillerat,A. and Duchateau,P. TITLE Overcoming transcription activator-like effector (TALE) DNA binding domain sensitivity to cytosine methylation JOURNAL J. Biol. Chem. 287 (46), 38427-38432 (2012) PUBMED 23019344 REMARK GeneRIF: biochemical analysis of how to overcome TALE DNA binding domain sensitivity to cytosine methylation REFERENCE 2 (bases 1 to 2264) AUTHORS Hneino,M., Blirando,K., Buard,V., Tarlet,G., Benderitter,M., Hoodless,P., Francois,A. and Milliat,F. TITLE The TG-interacting factor TGIF1 regulates stress-induced proinflammatory phenotype of endothelial cells JOURNAL J. Biol. Chem. 287 (46), 38913-38921 (2012) PUBMED 22995913 REMARK GeneRIF: TGIF1 plays a role in TNF-alpha- and radiation-induced inflammation and it could be a target in limiting this event in the vascular compartment REFERENCE 3 (bases 1 to 2264) AUTHORS Yeh,B.W., Wu,W.J., Li,W.M., Li,C.C., Huang,C.N., Kang,W.Y., Liu,Z.M. and Huang,H.S. TITLE Overexpression of TG-interacting factor is associated with worse prognosis in upper urinary tract urothelial carcinoma JOURNAL Am. J. Pathol. 181 (3), 1044-1055 (2012) PUBMED 22771156 REMARK GeneRIF: TGIF contributes to the progression of urothelial carcinoma via the phosphatidylinositol 3-kinase-AKT pathway. REFERENCE 4 (bases 1 to 2264) AUTHORS Huang,H.S., Liu,Z.M., Chen,P.C., Tseng,H.Y. and Yeh,B.W. TITLE TG-interacting factor-induced superoxide production from NADPH oxidase contributes to the migration/invasion of urothelial carcinoma JOURNAL Free Radic. Biol. Med. 53 (4), 769-778 (2012) PUBMED 22728270 REMARK GeneRIF: TGIF can promote cellular migration/invasion activity of urothelial carcinoma cells. REFERENCE 5 (bases 1 to 2264) AUTHORS Ribeiro-Bicudo,L.A., Quiezi,R.G., Guion-Almeida,M.L., Legnaro,C. and Richieri-Costa,A. TITLE Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies JOURNAL Am. J. Med. Genet. A 158A (5), 1233-1235 (2012) PUBMED 22496059 REMARK GeneRIF: Exclusion of mutations in TGIF gene in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies REFERENCE 6 (bases 1 to 2264) AUTHORS Hamid,R., Patterson,J. and Brandt,S.J. TITLE Genomic structure, alternative splicing and expression of TG-interacting factor, in human myeloid leukemia blasts and cell lines JOURNAL Biochim. Biophys. Acta 1779 (5), 347-355 (2008) PUBMED 18455519 REMARK GeneRIF: A detailed description of the TGIF locus characterizing 12 TGIF splice isoforms. REFERENCE 7 (bases 1 to 2264) AUTHORS Yang,Y., Hwang,C.K., D'Souza,U.M., Lee,S.H., Junn,E. and Mouradian,M.M. TITLE Three-amino acid extension loop homeodomain proteins Meis2 and TGIF differentially regulate transcription JOURNAL J. Biol. Chem. 275 (27), 20734-20741 (2000) PUBMED 10764806 REFERENCE 8 (bases 1 to 2264) AUTHORS Wotton,D., Lo,R.S., Lee,S. and Massague,J. TITLE A Smad transcriptional corepressor JOURNAL Cell 97 (1), 29-39 (1999) PUBMED 10199400 REFERENCE 9 (bases 1 to 2264) AUTHORS Bertolino,E., Reimund,B., Wildt-Perinic,D. and Clerc,R.G. TITLE A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif JOURNAL J. Biol. Chem. 270 (52), 31178-31188 (1995) PUBMED 8537382 REFERENCE 10 (bases 1 to 2264) AUTHORS Overhauser,J., Mitchell,H.F., Zackai,E.H., Tick,D.B., Rojas,K. and Muenke,M. TITLE Physical mapping of the holoprosencephaly critical region in 18p11.3 JOURNAL Am. J. Hum. Genet. 57 (5), 1080-1085 (1995) PUBMED 7485158 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AP001025.6 and BC031268.1. This sequence is a reference standard in the RefSeqGene project. On Jul 10, 2013 this sequence version replaced gi:28178842. Summary: The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013]. Transcript Variant: This variant (1) is the longest transcript and encodes the longest isoform (a). 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 :: BC031268.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025088 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-862 AP001025.6 187303-188164 863-2264 BC031268.1 591-1992 FEATURES Location/Qualifiers source 1..2264 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="18" /map="18p11.3" gene 1..2264 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /note="TGFB-induced factor homeobox 1" /db_xref="GeneID:7050" /db_xref="HGNC:11776" /db_xref="MIM:602630" exon 1..978 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /inference="alignment:Splign:1.39.8" misc_feature 510..512 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /note="upstream in-frame stop codon" CDS 576..1781 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /note="isoform a is encoded by transcript variant 1; homeobox protein TGIF1; TALE homeobox TG-interacting factor; transforming growth factor-beta-induced factor; 5'-TG-3'-interacting factor 1" /codon_start=1 /product="homeobox protein TGIF1 isoform a" /protein_id="NP_733796.2" /db_xref="GI:28178843" /db_xref="CCDS:CCDS11834.1" /db_xref="GeneID:7050" /db_xref="HGNC:11776" /db_xref="MIM:602630" /translation="
MVLAQSRVSAGVGSPHCSGSGGGGSDSFPWPASHPGNPQCSFSTAFLASPRLSRGTLAYLPPAPWSSLATPSALLGSSCAPPPPPARCPQPRALSPELGTKAGPRRPHRWELPRSPSQGAQGPAPRRRLLETMKGIVAASGSETEDEDSMDIPLDLSSSAGSGKRRRRGNLPKESVQILRDWLYEHRYNAYPSEQEKALLSQQTHLSTLQVCNWFINARRRLLPDMLRKDGKDPNQFTISRRGAKISETSSVESVMGIKNFMPALEETPFHSCTAGPNPTLGRPLSPKPSSPGSVLARPSVICHTTVTALKDVPFSLCQSVGVGQNTDIQQIAAKNFTDTSLMYPEDTCKSGPSTNTQSGLFNTPPPTPPDLNQDFSGFQLLVDVALKRAAEMELQAKLTA
" misc_feature 1032..1046 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q15583.3); Region: CTBP-binding motif" misc_feature 1083..1241 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /note="Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner; Region: homeodomain; cd00086" /db_xref="CDD:28970" misc_feature order(1083..1085,1212..1214,1221..1226,1233..1235) /gene="TGIF1" /gene_synonym="HPE4; TGIF" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" misc_feature order(1086..1088,1146..1148,1164..1166,1203..1205, 1209..1214,1221..1226,1230..1238) /gene="TGIF1" /gene_synonym="HPE4; TGIF" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" exon 979..1205 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /inference="alignment:Splign:1.39.8" exon 1206..2252 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /inference="alignment:Splign:1.39.8" STS 1803..2050 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /standard_name="STS-X89750" /db_xref="UniSTS:67859" STS 1879..2139 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /standard_name="RH39275" /db_xref="UniSTS:88834" STS 1904..2136 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /standard_name="RH76383" /db_xref="UniSTS:90886" polyA_signal 2231..2236 /gene="TGIF1" /gene_synonym="HPE4; TGIF" polyA_site 2252 /gene="TGIF1" /gene_synonym="HPE4; TGIF" ORIGIN
cttttgaagttaacaaaaattgagtccctggctgggaggtcccccgagtgttccgctgtgggctggaggtggcgtttctgtcgtgatttatgtggagtggttcaaaacagaagttaatcactcgggaagcggacgggaggggcggcgctactgcgcatgcccgggagccgcctggagtttggaactccacattctttcagacccggcccgctgcggggcgttcctggggggtagcctcaaggccagcggggttccttcggctgcgtttctgtgggaggccctgaaacgcgcggagcttccctctgcctccaggctttcccagcgagagtgaaattaaacttgaaactcggatcaactggcagtcgttgttggtagaacgccctaaggacccctccccgcgggacggagggaggactcgggacagggaattggccctgggagaaaacgcgcggggggcgtccgagacgccccgtgaaagccgtgccgacccttgggaggactgacaggtctagagacacgcgctgtctgttgtggtgggcctcccgggaataagtgaggggctctgtgtttcgaggatggttctagcgcagagccgggtgtctgccggggtgggctccccgcattgttcgggctccggcgggggcggctctgattcctttccatggcccgcctcccaccccgggaatccccagtgctccttttccacggcttttctggcgtccccccgactctcccgcggcactttggcctaccttcccccagcgccgtggtcctccctggcgaccccctctgcgctcctggggtcctcctgcgccccccctcctccaccggcgcgctgcccacagccgcgtgccctctccccggagctggggaccaaggctgggccccgccggccgcatcggtgggaacttccgcggtccccatcccagggcgcacagggtccagctcctcggcgccgactcctggaaacaatgaaaggtattgttgcagcatctggcagtgagactgaggatgaggacagcatggacattcccttggacctttcttcatccgctggctcaggcaagagaaggagaaggggcaacctacccaaggagtctgtgcagattcttcgggattggctgtatgagcaccgttacaatgcctatccttcagagcaagaaaaagcgttgctgtcccagcaaacacacctgtctacgctacaggtctgtaactggttcatcaacgcccgccgcaggctcctccctgacatgctgagaaaggatggcaaagatccaaatcagttcacaatttcccgccgtggggccaagatttctgaaacgagctctgtggagtccgtgatgggcatcaaaaacttcatgccagctctagaggagaccccatttcattcctgtacagctgggccaaacccaaccctagggaggccactgtctcctaagccgtcatccccgggatcagttttggctcgtccatcagtgatctgccataccactgtgactgcattgaaagatgtccctttctctctctgccagtcggtcggtgtgggacaaaacacagatatacagcagatagcggccaaaaacttcacagacacctctctcatgtacccagaggacacttgtaaatctggaccaagtacgaatacacagagtggtcttttcaacactcctccccctactccaccggacctcaaccaggacttcagtggatttcagcttctagtggatgttgcactcaaacgggctgcagagatggagcttcaggcaaaacttacagcttaacccattttcaagcaaaacagttctcagaaatgtcatgattgccggggtgaaggcaagagatgaattgcattattttatatattttttattaatatttgcacatgggattgctaaaacagcttcctgttactgagatgtcttcaatggaatacagtcattccaagaactataaacttaaagctactgtagaaacaaagggttttcttttttaaatgtttcttggtagattattcataatgtgagatggttcccaatatcatgtgattttttttttcctccccttccctttttttgttattttttcagactgtgcaatacttagagaacctatagcatcttctcattcccatgtggaacaggatgcccacatactgtctaattaataaattttccattttttttcaaacaagtatgaatctagttggttgatgccttttttttcatgacataataaagtattttctttaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:7050 -> Molecular function: GO:0003682 [chromatin binding] evidence: IEA GeneID:7050 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:7050 -> Molecular function: GO:0003714 [transcription corepressor activity] evidence: TAS GeneID:7050 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:7050 -> Molecular function: GO:0070410 [co-SMAD binding] evidence: IEA GeneID:7050 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: TAS GeneID:7050 -> Biological process: GO:0001843 [neural tube closure] evidence: IEA GeneID:7050 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: TAS GeneID:7050 -> Biological process: GO:0006367 [transcription initiation from RNA polymerase II promoter] evidence: TAS GeneID:7050 -> Biological process: GO:0007179 [transforming growth factor beta receptor signaling pathway] evidence: TAS GeneID:7050 -> Biological process: GO:0007275 [multicellular organismal development] evidence: TAS GeneID:7050 -> Biological process: GO:0007368 [determination of left/right symmetry] evidence: IEA GeneID:7050 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: IEA GeneID:7050 -> Biological process: GO:0009953 [dorsal/ventral pattern formation] evidence: IEA GeneID:7050 -> Biological process: GO:0010467 [gene expression] evidence: TAS GeneID:7050 -> Biological process: GO:0010470 [regulation of gastrulation] evidence: IEA GeneID:7050 -> Biological process: GO:0038092 [nodal signaling pathway] evidence: IEA GeneID:7050 -> Biological process: GO:0042493 [response to drug] evidence: IEA GeneID:7050 -> Biological process: GO:0045666 [positive regulation of neuron differentiation] evidence: IEA GeneID:7050 -> Biological process: GO:0048146 [positive regulation of fibroblast proliferation] evidence: IEA GeneID:7050 -> Biological process: GO:0048387 [negative regulation of retinoic acid receptor signaling pathway] evidence: IEA GeneID:7050 -> Biological process: GO:0060041 [retina development in camera-type eye] evidence: IEA GeneID:7050 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
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