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This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014]
Predicted intracellular proteins Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Protein evidence (Kim et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding] GO:0001012 [RNA polymerase II regulatory region DNA binding] GO:0001047 [core promoter binding] GO:0001161 [intronic transcription regulatory region sequence-specific DNA binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0007420 [brain development] GO:0009725 [response to hormone] GO:0010628 [positive regulation of gene expression] GO:0010719 [negative regulation of epithelial to mesenchymal transition] GO:0019899 [enzyme binding] GO:0021759 [globus pallidus development] GO:0030324 [lung development] GO:0030336 [negative regulation of cell migration] GO:0030512 [negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030878 [thyroid gland development] GO:0030900 [forebrain development] GO:0042753 [positive regulation of circadian rhythm] GO:0043565 [sequence-specific DNA binding] GO:0044212 [transcription regulatory region DNA binding] GO:0044213 [intronic transcription regulatory region DNA binding] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0048511 [rhythmic process] GO:0060441 [epithelial tube branching involved in lung morphogenesis]
Predicted intracellular proteins Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Protein evidence (Kim et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding] GO:0001012 [RNA polymerase II regulatory region DNA binding] GO:0001047 [core promoter binding] GO:0001161 [intronic transcription regulatory region sequence-specific DNA binding] GO:0001764 [neuron migration] GO:0002016 [regulation of blood volume by renin-angiotensin] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0003705 [transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005667 [transcription factor complex] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter] GO:0006644 [phospholipid metabolic process] GO:0007389 [pattern specification process] GO:0007411 [axon guidance] GO:0007420 [brain development] GO:0007492 [endoderm development] GO:0007631 [feeding behavior] GO:0009725 [response to hormone] GO:0009887 [organ morphogenesis] GO:0010628 [positive regulation of gene expression] GO:0010719 [negative regulation of epithelial to mesenchymal transition] GO:0019899 [enzyme binding] GO:0021537 [telencephalon development] GO:0021759 [globus pallidus development] GO:0021766 [hippocampus development] GO:0021795 [cerebral cortex cell migration] GO:0021798 [forebrain dorsal/ventral pattern formation] GO:0021877 [forebrain neuron fate commitment] GO:0021879 [forebrain neuron differentiation] GO:0021892 [cerebral cortex GABAergic interneuron differentiation] GO:0021895 [cerebral cortex neuron differentiation] GO:0021983 [pituitary gland development] GO:0022029 [telencephalon cell migration] GO:0030324 [lung development] GO:0030336 [negative regulation of cell migration] GO:0030512 [negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030878 [thyroid gland development] GO:0030900 [forebrain development] GO:0031128 [developmental induction] GO:0032496 [response to lipopolysaccharide] GO:0033327 [Leydig cell differentiation] GO:0042538 [hyperosmotic salinity response] GO:0042753 [positive regulation of circadian rhythm] GO:0043565 [sequence-specific DNA binding] GO:0044212 [transcription regulatory region DNA binding] GO:0044213 [intronic transcription regulatory region DNA binding] GO:0045471 [response to ethanol] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046545 [development of primary female sexual characteristics] GO:0048511 [rhythmic process] GO:0048646 [anatomical structure formation involved in morphogenesis] GO:0048663 [neuron fate commitment] GO:0048709 [oligodendrocyte differentiation] GO:0060430 [lung saccule development] GO:0060441 [epithelial tube branching involved in lung morphogenesis] GO:0060486 [Clara cell differentiation] GO:0060510 [Type II pneumocyte differentiation]