NKX2-1
entrez
7080
canonical
uniprot
P43699
canonical
ensembl
ENSG00000136352
resolver
ensp
ENSP00000346879
resolver
ensp
ENSP00000429607
resolver
genesymbol
NKX2-1
resolver
genesymbol_syn
NKX2A
resolver
genesymbol_syn
TITF1
resolver
genesymbol_syn
TTF1
resolver
hgnc
HGNC:11825
resolver
uniprot
D3DSA3
resolver
uniprot
O14954
resolver
uniprot
O14955
resolver
uniprot
Q7KZF6
resolver
uniprot
Q9BRJ8
resolver
uniprot_entry
NKX21_HUMAN
resolver
uniprot_sec
D3DSA3
resolver
uniprot_sec
O14954
resolver
uniprot_sec
O14955
resolver
uniprot_sec
Q7KZF6
resolver
uniprot_sec
Q9BRJ8
resolver
amino_acid_sequence
MSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLGAPLAAYRQGQAAPPTAAMQQHAVGHHGAVTAAYHMTAAGVPQLSHSAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDPRFPAISRFMGPASGMNMSGMGGLGSLGDVSKNMAPLPSAPRRKRRVLFSQAQVYELERRFKQQKYLSAPEREHLASMIHLTPTQVKIWFQNHRYKMKRQAKDKAAQQQLQQDSGGGGGGGGTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAASLQGHAQQQAQHQAQAAQAAAAAISVGSGGAGLGAHPGHQPGSAGQSPDLAHHAASPAALQGQVSSLSHLNSSGSDYGTMSCSTLLYGRTW
uniprot
proteins
disease_involvement
DISEASE: Chorea, hereditary benign (BHC) [MIM:118700]: A rare autosomal dominant movement disorder, defined by early onset in childhood, a stable or non-progressive course of chorea, and no mental deterioration. Chorea is characterized by involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. {ECO:0000269|PubMed:11971878, ECO:0000269|PubMed:15955952, ECO:0000269|PubMed:24453141, ECO:0000269|PubMed:26723978}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) [MIM:610978]: An autosomal dominant disorder that manifests in infancy with neurological disturbances, hypothyroidism, and respiratory problems. It is characterized by movement abnormalities beginning with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria. {ECO:0000269|PubMed:11854318, ECO:0000269|PubMed:11854319, ECO:0000269|PubMed:15289765, ECO:0000269|PubMed:15955952, ECO:0000269|PubMed:24714694}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Thyroid cancer, non-medullary, 1 (NMTC1) [MIM:188550]: A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. {ECO:0000269|PubMed:19176457}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:P23441, ECO:0000250|UniProtKB:P50220}.
uniprot
proteins
mass_dalton
38596
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on serine residues by STK3/MST2. {ECO:0000250}.
uniprot
proteins
protein_family
NK-2 homeobox family
uniprot
proteins
pubmed
11854318
uniprot
proteins
pubmed
11854319
uniprot
proteins
pubmed
11971878
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
15289765
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15955952
uniprot
proteins
pubmed
19010321
uniprot
proteins
pubmed
19176457
uniprot
proteins
pubmed
24453141
uniprot
proteins
pubmed
24714694
uniprot
proteins
pubmed
26723978
uniprot
proteins
pubmed
7711079
uniprot
proteins
pubmed
7711080
uniprot
proteins
pubmed
7713914
uniprot
proteins
pubmed
9545595
uniprot
proteins
sequence_length
371
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P50220}.
uniprot
proteins