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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. Note: This description may include information from UniProtKB.
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
Reference #:  P43699 (UniProtKB)
Alt. Names/Synonyms: BCH; BHC; Homeobox protein NK-2 homolog A; Homeobox protein Nkx-2.1; NK-2; NK-2 homolog A; NK2 homeobox 1; NKX2-1; NKX2.1; NKX21; NKX2A; TEBP; Thyroid nuclear factor 1; Thyroid transcription factor 1; TITF1; TTF-1; TTF1
Gene Symbols: NKX2-1
Molecular weight: 38,596 Da
Basal Isoelectric point: 9.72  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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