We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
14
Cytoband
q13.3
Chromosome location (bp)
36516392 - 36521149
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis. Forms a regulatory loop with GRHL2 that coordinates lung epithelial cell morphogenesis and differentiation. Activates the transcription of GNRHR and plays a role in enhancing the circadian oscillation of its gene expression. Represses the transcription of the circadian transcriptional repressor NR1D1 (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Human disease related genes Cancers Cancers of endocrine organs Endocrine and metabolic diseases Thyroid gland diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001161[intronic transcription regulatory region sequence-specific DNA binding] GO:0001764[neuron migration] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006644[phospholipid metabolic process] GO:0007389[pattern specification process] GO:0007411[axon guidance] GO:0007420[brain development] GO:0007492[endoderm development] GO:0007626[locomotory behavior] GO:0009725[response to hormone] GO:0009887[animal organ morphogenesis] GO:0010467[gene expression] 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:0021854[hypothalamus development] 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:0030154[cell differentiation] 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:0033327[Leydig cell differentiation] GO:0042753[positive regulation of circadian rhythm] GO:0043565[sequence-specific DNA binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] 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[club cell differentiation] GO:0060510[type II pneumocyte differentiation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0097154[GABAergic neuron differentiation] GO:1904936[interneuron migration]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Human disease related genes Cancers Cancers of endocrine organs Endocrine and metabolic diseases Thyroid gland diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001161[intronic transcription regulatory region sequence-specific DNA binding] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] 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:0030154[cell differentiation] 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:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048511[rhythmic process] GO:0060441[epithelial tube branching involved in lung morphogenesis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Human disease related genes Cancers Cancers of endocrine organs Endocrine and metabolic diseases Thyroid gland diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001161[intronic transcription regulatory region sequence-specific DNA binding] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] 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:0030154[cell differentiation] 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:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048511[rhythmic process] GO:0060441[epithelial tube branching involved in lung morphogenesis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding]
A0A7P0P5T6 [Direct mapping] Homeobox protein Nkx-2.1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Human disease related genes Cancers Cancers of endocrine organs Endocrine and metabolic diseases Thyroid gland diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001161[intronic transcription regulatory region sequence-specific DNA binding] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] 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:0030154[cell differentiation] 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:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048511[rhythmic process] GO:0060441[epithelial tube branching involved in lung morphogenesis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding]
The Human Protein Atlas project is funded
