2025-05-09 19:49:40, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001278682 1530 bp mRNA linear PRI 18-JUL-2013 DEFINITION Homo sapiens TGFB-induced factor homeobox 1 (TGIF1), transcript variant 9, mRNA. ACCESSION NM_001278682 VERSION NM_001278682.1 GI:522838236 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 1530) 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 1530) 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 1530) 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 1530) 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 1530) 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 1530) 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 1530) 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 1530) 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 1530) 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 1530) 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 CB161219.1 and BC031268.1. 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 (9) has an alternate 5' terminal exon, which results in a different 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (e) is shorter and has a distinct N-terminus, compared to isoform a. 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 :: CB161219.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025088 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-563 CB161219.1 1-563 564-1530 BC031268.1 1026-1992 FEATURES Location/Qualifiers source 1..1530 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="18" /map="18p11.3" gene 1..1530 /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..244 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /inference="alignment:Splign:1.39.8" misc_feature 13..15 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /note="upstream in-frame stop codon" CDS 220..1047 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /note="isoform e is encoded by transcript variant 9; 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 e" /protein_id="NP_001265611.1" /db_xref="GI:522838237" /db_xref="GeneID:7050" /db_xref="HGNC:11776" /db_xref="MIM:602630" /translation="
MAAAHSGRSIVAASGSETEDEDSMDIPLDLSSSAGSGKRRRRGNLPKESVQILRDWLYEHRYNAYPSEQEKALLSQQTHLSTLQVCNWFINARRRLLPDMLRKDGKDPNQFTISRRGAKISETSSVESVMGIKNFMPALEETPFHSCTAGPNPTLGRPLSPKPSSPGSVLARPSVICHTTVTALKDVPFSLCQSVGVGQNTDIQQIAAKNFTDTSLMYPEDTCKSGPSTNTQSGLFNTPPPTPPDLNQDFSGFQLLVDVALKRAAEMELQAKLTA
" exon 245..471 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /inference="alignment:Splign:1.39.8" exon 472..1518 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /inference="alignment:Splign:1.39.8" STS 1069..1316 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /standard_name="STS-X89750" /db_xref="UniSTS:67859" STS 1145..1405 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /standard_name="RH39275" /db_xref="UniSTS:88834" STS 1170..1402 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /standard_name="RH76383" /db_xref="UniSTS:90886" polyA_signal 1497..1502 /gene="TGIF1" /gene_synonym="HPE4; TGIF" polyA_site 1518 /gene="TGIF1" /gene_synonym="HPE4; TGIF" ORIGIN
agcatgtgagcgtgacaagtgtctgtccgcaacgtgtcagatttcgaaactgccttgcaatccagtccggaactcgcagctttagcccgggggaacagacgttcgtttaggctgtgtctcatcattcccccccgccccacccccgccgacctcccactgtcgctgctggaggaagagccccgggaggagaagggtgcgccgcgccgcgcccgcgtgtcaatggcagccgcgcattctggaagaagtattgttgcagcatctggcagtgagactgaggatgaggacagcatggacattcccttggacctttcttcatccgctggctcaggcaagagaaggagaaggggcaacctacccaaggagtctgtgcagattcttcgggattggctgtatgagcaccgttacaatgcctatccttcagagcaagaaaaagcgttgctgtcccagcaaacacacctgtctacgctacaggtctgtaactggttcatcaacgcccgccgcaggctcctccctgacatgctgagaaaggatggcaaagatccaaatcagttcacaatttcccgccgtggggccaagatttctgaaacgagctctgtggagtccgtgatgggcatcaaaaacttcatgccagctctagaggagaccccatttcattcctgtacagctgggccaaacccaaccctagggaggccactgtctcctaagccgtcatccccgggatcagttttggctcgtccatcagtgatctgccataccactgtgactgcattgaaagatgtccctttctctctctgccagtcggtcggtgtgggacaaaacacagatatacagcagatagcggccaaaaacttcacagacacctctctcatgtacccagaggacacttgtaaatctggaccaagtacgaatacacagagtggtcttttcaacactcctccccctactccaccggacctcaaccaggacttcagtggatttcagcttctagtggatgttgcactcaaacgggctgcagagatggagcttcaggcaaaacttacagcttaacccattttcaagcaaaacagttctcagaaatgtcatgattgccggggtgaaggcaagagatgaattgcattattttatatattttttattaatatttgcacatgggattgctaaaacagcttcctgttactgagatgtcttcaatggaatacagtcattccaagaactataaacttaaagctactgtagaaacaaagggttttcttttttaaatgtttcttggtagattattcataatgtgagatggttcccaatatcatgtgattttttttttcctccccttccctttttttgttattttttcagactgtgcaatacttagagaacctatagcatcttctcattcccatgtggaacaggatgcccacatactgtctaattaataaattttccattttttttcaaacaagtatgaatctagttggttgatgccttttttttcatgacataataaagtattttctttaaaaaaaaaaaaaaaaa
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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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