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2025-05-09 19:54:00, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_173210 1657 bp mRNA linear PRI 18-JUL-2013 DEFINITION Homo sapiens TGFB-induced factor homeobox 1 (TGIF1), transcript variant 6, mRNA. ACCESSION NM_173210 VERSION NM_173210.2 GI:522838235 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 1657) 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 1657) 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 1657) 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 1657) 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 1657) 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 1657) 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 1657) 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 1657) 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 1657) 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 1657) 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 CN290028.1, BX952985.1 and BC031268.1. On Jul 10, 2013 this sequence version replaced gi:28178852. 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 (6) uses an alternate splice site in the 5' region, which results in a shorter 5' UTR and a downstream translation start codon, compared to variant 1. The resulting isoform (d) has a shorter N-terminus, compared to isoform a. Variants 5, 6, 7, 8 and 11 encode the same isoform d. 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 :: BG386396.1, CX163366.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025083, ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-270 CN290028.1 1-270 271-710 BX952985.1 1-440 711-1657 BC031268.1 1046-1992 FEATURES Location/Qualifiers source 1..1657 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="18" /map="18p11.3" gene 1..1657 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /note="TGFB-induced factor homeobox 1" /db_xref="GeneID:7050" /db_xref="HGNC:11776" /db_xref="HPRD:04023" /db_xref="MIM:602630" exon 1..371 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /inference="alignment:Splign:1.39.8" misc_feature 341..343 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /note="upstream in-frame stop codon" exon 372..598 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /inference="alignment:Splign:1.39.8" CDS 416..1174 /gene="TGIF1" /gene_synonym="HPE4; TGIF" /note="isoform d is encoded by transcript variant 6; 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 d" /protein_id="NP_775302.1" /db_xref="GI:28178853" /db_xref="CCDS:CCDS11835.1" /db_xref="GeneID:7050" /db_xref="HGNC:11776" /db_xref="HPRD:04023" /db_xref="MIM:602630" /translation="
MDIPLDLSSSAGSGKRRRRGNLPKESVQILRDWLYEHRYNAYPSEQEKALLSQQTHLSTLQVCNWFINARRRLLPDMLRKDGKDPNQFTISRRGAKISETSSVESVMGIKNFMPALEETPFHSCTAGPNPTLGRPLSPKPSSPGSVLARPSVICHTTVTALKDVPFSLCQSVGVGQNTDIQQIAAKNFTDTSLMYPEDTCKSGPSTNTQSGLFNTPPPTPPDLNQDFSGFQLLVDVALKRAAEMELQAKLTA
"
misc_feature 476..634
/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(476..478,605..607,614..619,626..628)
/gene="TGIF1"
/gene_synonym="HPE4; TGIF"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
misc_feature order(479..481,539..541,557..559,596..598,602..607,
614..619,623..631)
/gene="TGIF1"
/gene_synonym="HPE4; TGIF"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
exon 599..1645
/gene="TGIF1"
/gene_synonym="HPE4; TGIF"
/inference="alignment:Splign:1.39.8"
STS 1196..1443
/gene="TGIF1"
/gene_synonym="HPE4; TGIF"
/standard_name="STS-X89750"
/db_xref="UniSTS:67859"
STS 1272..1532
/gene="TGIF1"
/gene_synonym="HPE4; TGIF"
/standard_name="RH39275"
/db_xref="UniSTS:88834"
STS 1297..1529
/gene="TGIF1"
/gene_synonym="HPE4; TGIF"
/standard_name="RH76383"
/db_xref="UniSTS:90886"
polyA_signal 1624..1629
/gene="TGIF1"
/gene_synonym="HPE4; TGIF"
polyA_site 1645
/gene="TGIF1"
/gene_synonym="HPE4; TGIF"
ORIGIN
cttttgaagttaacaaaaattgagtccctggctgggaggtcccccgagtgttccgctgtgggctggaggtggcgtttctgtcgtgatttatgtggagtggttcaaaacagaagttaatcactcgggaagcggacgggaggggcggcgctactgcgcatgcccgggagccgcctggagtttggaactccacattctttcagacccggcccgctgcggggcgttcctggggggtagcctcaaggccagcggggttccttcggctgcgtttctgtgggaggccctgaaacgcgcggagcttccctctgcctccaggctttcccagcgagagtgaaattaaacttgaaactcggatcaactggcagtcgttgttggtattgttgcagcatctggcagtgagactgaggatgaggacagcatggacattcccttggacctttcttcatccgctggctcaggcaagagaaggagaaggggcaacctacccaaggagtctgtgcagattcttcgggattggctgtatgagcaccgttacaatgcctatccttcagagcaagaaaaagcgttgctgtcccagcaaacacacctgtctacgctacaggtctgtaactggttcatcaacgcccgccgcaggctcctccctgacatgctgagaaaggatggcaaagatccaaatcagttcacaatttcccgccgtggggccaagatttctgaaacgagctctgtggagtccgtgatgggcatcaaaaacttcatgccagctctagaggagaccccatttcattcctgtacagctgggccaaacccaaccctagggaggccactgtctcctaagccgtcatccccgggatcagttttggctcgtccatcagtgatctgccataccactgtgactgcattgaaagatgtccctttctctctctgccagtcggtcggtgtgggacaaaacacagatatacagcagatagcggccaaaaacttcacagacacctctctcatgtacccagaggacacttgtaaatctggaccaagtacgaatacacagagtggtcttttcaacactcctccccctactccaccggacctcaaccaggacttcagtggatttcagcttctagtggatgttgcactcaaacgggctgcagagatggagcttcaggcaaaacttacagcttaacccattttcaagcaaaacagttctcagaaatgtcatgattgccggggtgaaggcaagagatgaattgcattattttatatattttttattaatatttgcacatgggattgctaaaacagcttcctgttactgagatgtcttcaatggaatacagtcattccaagaactataaacttaaagctactgtagaaacaaagggttttcttttttaaatgtttcttggtagattattcataatgtgagatggttcccaatatcatgtgattttttttttcctccccttccctttttttgttattttttcagactgtgcaatacttagagaacctatagcatcttctcattcccatgtggaacaggatgcccacatactgtctaattaataaattttccattttttttcaaacaagtatgaatctagttggttgatgccttttttttcatgacataataaagtattttctttaaaaaaaaaaaaaaaaa
//
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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