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Protein Page:
NKX2-1 (human)

Overview
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. Note: This description may include information from UniProtKB.
Protein type: Transcription factor; DNA binding protein
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; 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; menarche; cerebral cortex cell migration; pituitary gland development; positive regulation of transcription from RNA polymerase II promoter; brain development; negative regulation of transcription, DNA-dependent; negative regulation of transforming growth factor beta receptor signaling pathway; endoderm development; lung development
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
Select Structure to View Below

NKX2-1

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 S4 ____MSMSPKHTTPF
2 0 T9 SMSPKHTTPFSVSDI
1 0 S12 PKHTTPFSVSDILSP
1 0 S18 FSVSDILSPLEESYK
1 0 S23 ILSPLEESYKKVGME
0 1 T50-p QGQAAPPtAAMQQHA
0 1 Y114-p SASGPGWyGANPDPR
1 1 S254-p QQQAQQQsPRRVAVP
1 0 S327 QPGSAGQSPDLAHHA
1 0 S336 DLAHHAASPAALQGQ
13608 : Phospho-TTF-1 (Ser327) Antibody
  mouse

 
S4-p ____MSMsPKHTTPF
T9 SMsPKHTTPFSVSDI
S12 PKHTTPFSVSDILSP
S18 FSVSDILSPLEESYK
S23 ILSPLEESYKKVGME
A50 QGQAAPPAAAMQQHA
Y114-p SASGPGWyGANPDPR
S255-p QQQAQQQsPRRVAVP
S328 QPGSAGQSPDLAHHA
S337 DLAHHAASPAGLQGQ
13608 : Phospho-TTF-1 (Ser327) Antibody
  rat

 
S4 ____MSMSPKHTtPF
T9-p SMSPKHTtPFsVSDI
S12-p PKHTtPFsVSDILsP
S18-p FsVSDILsPLEEsYK
S23-p ILsPLEEsYKKVGME
A50 QGQAAPPAAAMQQHA
Y114 SASGPGWYGANPDPR
S255-p QQQAQQQsPRRVAVP
S328-p QPGSAGQsPDLAHHA
S337-p DLAHHAAsPAALQGQ
13608 : Phospho-TTF-1 (Ser327) Antibody
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