NP_001073136.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
41,737 Da
NCBI Official Full Name
homeobox protein Nkx-2.1 isoform 1
NCBI Official Synonym Full Names
NK2 homeobox 1
NCBI Official Synonym Symbols
BCH; BHC; NK-2; TEBP; TTF1; NKX2A; T/EBP; TITF1; TTF-1; NKX2.1 [Similar Products]
NCBI Protein Information
homeobox protein Nkx-2.1
UniProt Protein Name
Homeobox protein Nkx-2.1
UniProt Synonym Protein Names
Homeobox protein NK-2 homolog A; Thyroid nuclear factor 1; Thyroid transcription factor 1; TTF-1; Thyroid-specific enhancer-binding protein; T/EBP
UniProt Synonym Gene Names
UniProt Entry Name
NKX21_HUMAN
NCBI Summary for NKX2-1
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]
UniProt Comments for NKX2-1
NKX2-1: 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. Defects in NKX2-1 are the cause of benign hereditary chorea (BHC); also known as hereditary chorea without dementia. BHC is an autosomal dominant movement disorder. The early onset of symptoms (usully before the age of 5) and the observation that in some BHC families the symptoms tend to decrease in adulthood suggests that the disorder results from a developmental disturbance of the brain. BHC is non-progressive and patients have normal or slightly below normal intelligence. There is considerable inter- and intrafamilial variability, including dysarthria, axial distonia and gait disturbances. Defects in NKX2-1 are the cause of choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD). This syndrome include neurological, thyroid, and respiratory problems. Belongs to the NK-2 homeobox family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Transcription factor; DNA-binding
Chromosomal Location of Human Ortholog: 14q13
Cellular Component: nucleoplasm; transcription factor complex; nucleus
Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; protein binding; enzyme binding; DNA binding; sequence-specific DNA binding; transcription factor activity
Biological Process: transcription from RNA polymerase II promoter; axon guidance; positive regulation of transcription, DNA-dependent; neuron migration; response to hormone stimulus; rhythmic process; globus pallidus development; forebrain dorsal/ventral pattern formation; locomotory behavior; positive regulation of circadian rhythm; negative regulation of transcription from RNA polymerase II promoter; Leydig cell differentiation; phospholipid metabolic process; forebrain development; thyroid gland development; oligodendrocyte differentiation; anatomical structure formation; forebrain neuron fate commitment; negative regulation of cell migration; hippocampus development; induction; cerebral cortex GABAergic interneuron differentiation; cerebral cortex cell migration; pituitary gland development; positive regulation of transcription from RNA polymerase II promoter; brain development; negative regulation of transforming growth factor beta receptor signaling pathway; negative regulation of transcription, DNA-dependent; lung development; endoderm development
Disease: Thyroid Carcinoma, Papillary; Chorea, Benign Hereditary; Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Research Articles on NKX2-1
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with anti-NKX2-1 antibody
Pathways associated with anti-NKX2-1 antibody
Diseases associated with anti-NKX2-1 antibody
Organs/Tissues associated with anti-NKX2-1 antibody
|