Thyroid Transcription Factor 1 (NKX2-1) Antibody – Goat Polyclonal

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]

NKX2-1: a homeobox transcription factor expressed in thyroid, lung, and parts of the brain. Essential for the branching morphogenesis of the lung. Binds and activates the promoters of CEACAM6, thyroid-specific genes, ROR1, LAMP3, VEGF, etc. Its transcription is responsive to SMAD2 signaling after endodermal differentiation is induced in embryonic stem cell. Defects in NKX2-1 are associated with neurological, thyroid, and respiratory problems. Frequent amplified in human lung cancer cell lines and tumors. Amplified in 15% of non-small cell lung cancers (NSCLC), and appears to drive cancer cell proliferation and survival. EGFR may be a downstream effector of NKX2-1 when amplified in NSCLC. May operate as a lineage-specific oncogene in lung adenocarcinoma. Belongs to the NK-2 homeobox family. 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. Belongs to the NK-2 homeobox family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 14q13.3

Cellular Component: nucleoplasm; nucleus

Molecular Function: DNA binding; enzyme binding; protein binding; transcription factor activity

Biological Process: brain development; forebrain development; globus pallidus development; lung development; negative regulation of cell migration; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of circadian rhythm; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; response to hormone stimulus; thyroid gland development

Disease: Chorea, Benign Hereditary; Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction; Thyroid Carcinoma, Papillary