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Homeobox protein Nkx-2.1 (Homeobox protein NK-2 homolog A) (Thyroid nuclear factor 1) (Thyroid transcription factor 1) (TTF-1) (Thyroid-specific enhancer-binding protein) (T/EBP)

 NKX21_HUMAN             Reviewed;         371 AA.
P43699; D3DSA3; O14954; O14955; Q7KZF6; Q9BRJ8;
01-NOV-1995, integrated into UniProtKB/Swiss-Prot.
01-NOV-1995, sequence version 1.
18-JUL-2018, entry version 181.
RecName: Full=Homeobox protein Nkx-2.1;
AltName: Full=Homeobox protein NK-2 homolog A;
AltName: Full=Thyroid nuclear factor 1;
AltName: Full=Thyroid transcription factor 1;
Short=TTF-1;
AltName: Full=Thyroid-specific enhancer-binding protein;
Short=T/EBP;
Name=NKX2-1 {ECO:0000312|HGNC:HGNC:11825};
Synonyms=NKX2A, TITF1, TTF1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Lung;
PubMed=7711079; DOI=10.1016/0167-4781(95)00033-D;
Oguchi H., Pan Y.-T., Kimura S.;
"The complete nucleotide sequence of the mouse thyroid-specific
enhancer-binding protein (T/EBP) gene: extensive identity of the
deduced amino acid sequence with the human protein.";
Biochim. Biophys. Acta 1261:304-306(1995).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Thyroid;
PubMed=7711080; DOI=10.1016/0167-4781(95)00034-E;
Saiardi A., Tassi V., de Filippis V., Civitareale D.;
"Cloning and sequence analysis of human thyroid transcription factor
1.";
Biochim. Biophys. Acta 1261:307-310(1995).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
PubMed=7713914; DOI=10.1074/jbc.270.14.8108;
Ikeda K., Clark J.C., Shaw-White J.R., Stahlman M.T., Boutell C.J.,
Whitsett J.A.;
"Gene structure and expression of human thyroid transcription factor-1
in respiratory epithelial cells.";
J. Biol. Chem. 270:8108-8114(1995).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3).
TISSUE=Lung;
PubMed=9545595; DOI=10.1016/S0167-4781(97)00210-8;
Hamdan H., Liu H., Li C., Jones C., Lee M., deLemos R., Minoo P.;
"Structure of the human Nkx2.1 gene.";
Biochim. Biophys. Acta 1396:336-348(1998).
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
TISSUE=Thyroid;
Endo T., Ohno M., Nakazato M.;
"Cloning of the human TTF-1 gene.";
Submitted (MAY-1995) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
Phelan M., Farmer A.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor
vector.";
Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=12508121; DOI=10.1038/nature01348;
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S.,
Sun H., Du H., Pepin K., Artiguenave F., Robert C., Cruaud C.,
Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P.,
Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N.,
Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C.,
Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S.,
Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B.,
Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M.,
Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S.,
Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D.,
Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A.,
Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L.,
Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J.,
Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W.,
Quetier F., Waterston R., Hood L., Weissenbach J.;
"The DNA sequence and analysis of human chromosome 14.";
Nature 421:601-607(2003).
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
TISSUE=Lung;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[10]
INTERACTION WITH WWTR1.
PubMed=19010321; DOI=10.1016/j.yexcr.2008.10.016;
Di Palma T., D'Andrea B., Liguori G.L., Liguoro A., de Cristofaro T.,
Del Prete D., Pappalardo A., Mascia A., Zannini M.;
"TAZ is a coactivator for Pax8 and TTF-1, two transcription factors
involved in thyroid differentiation.";
Exp. Cell Res. 315:162-175(2009).
[11]
INVOLVEMENT IN NMTC1, VARIANT NMTC1 VAL-339, AND CHARACTERIZATION OF
VARIANT NMTC1 VAL-339.
PubMed=19176457; DOI=10.1093/jnci/djn471;
Ngan E.S., Lang B.H., Liu T., Shum C.K., So M.T., Lau D.K., Leon T.Y.,
Cherny S.S., Tsai S.Y., Lo C.Y., Khoo U.S., Tam P.K.,
Garcia-Barcelo M.M.;
"A germline mutation (A339V) in thyroid transcription factor-1 (TITF-
1/NKX2.1) in patients with multinodular goiter and papillary thyroid
carcinoma.";
J. Natl. Cancer Inst. 101:162-175(2009).
[12]
VARIANTS BHC LEU-208 AND SER-213, AND INVOLVEMENT IN BHC.
PubMed=11971878; DOI=10.1093/hmg/11.8.971;
Breedveld G.J., van Dongen J.W.F., Danesino C., Guala A., Percy A.K.,
Dure L.S., Harper P., Lazarou L.P., van der Linde H., Joosse M.,
Grueters A., MacDonald M.E., de Vries B.B.A., Arts W.F.M.,
Oostra B.A., Krude H., Heutink P.;
"Mutations in TITF-1 are associated with benign hereditary chorea.";
Hum. Mol. Genet. 11:971-979(2002).
[13]
INVOLVEMENT IN CAHTP.
PubMed=11854318; DOI=10.1172/JCI0214192;
Pohlenz J., Dumitrescu A., Zundel D., Martine U., Schoenberger W.,
Koo E., Weiss R.E., Cohen R.N., Kimura S., Refetoff S.;
"Partial deficiency of thyroid transcription factor 1 produces
predominantly neurological defects in humans and mice.";
J. Clin. Invest. 109:469-473(2002).
[14]
VARIANT CAHTP PHE-205.
PubMed=11854319; DOI=10.1172/JCI0214341;
Krude H., Schuetz B., Biebermann H., von Moers A., Schnabel D.,
Neitzel H., Toennies H., Weise D., Lafferty A., Schwarz S.,
DeFelice M., von Deimling A., van Landeghem F., DiLauro R.,
Grueters A.;
"Choreoathetosis, hypothyroidism, and pulmonary alterations due to
human NKX2-1 haploinsufficiency.";
J. Clin. Invest. 109:475-480(2002).
[15]
INVOLVEMENT IN CAHTP.
PubMed=15289765; DOI=10.1016/j.jpeds.2004.04.011;
Doyle D.A., Gonzalez I., Thomas B., Scavina M.;
"Autosomal dominant transmission of congenital hypothyroidism,
neonatal respiratory distress, and ataxia caused by a mutation of
NKX2-1.";
J. Pediatr. 145:190-193(2004).
[16]
INVOLVEMENT IN CAHTP AND IN BHC.
PubMed=15955952; DOI=10.1212/01.WNL.0000164000.75046.CC;
Asmus F., Horber V., Pohlenz J., Schwabe D., Zimprich A., Munz M.,
Schoening M., Gasser T.;
"A novel TITF-1 mutation causes benign hereditary chorea with response
to levodopa.";
Neurology 64:1952-1954(2005).
[17]
VARIANT BHC PRO-179.
PubMed=24453141; DOI=10.1177/0883073813518243;
Williamson S., Kirkpatrick M., Greene S., Goudie D.;
"A novel mutation of NKX2-1 affecting 2 generations with
hypothyroidism and choreoathetosis: part of the spectrum of brain-
thyroid-lung syndrome.";
J. Child Neurol. 29:666-669(2014).
[18]
VARIANTS CAHTP ARG-203 AND PHE-205.
PubMed=24714694; DOI=10.1136/jmedgenet-2013-102248;
Thorwarth A., Schnittert-Huebener S., Schrumpf P., Mueller I.,
Jyrch S., Dame C., Biebermann H., Kleinau G., Katchanov J.,
Schuelke M., Ebert G., Steininger A., Boennemann C., Brockmann K.,
Christen H.J., Crock P., deZegher F., Griese M., Hewitt J.,
Ivarsson S., Huebner C., Kapelari K., Plecko B., Rating D., Stoeva I.,
Ropers H.H., Grueters A., Ullmann R., Krude H.;
"Comprehensive genotyping and clinical characterisation reveal 27
novel NKX2-1 mutations and expand the phenotypic spectrum.";
J. Med. Genet. 51:375-387(2014).
[19]
VARIANTS BHC HIS-172 AND SER-208, AND CHARACTERIZATION OF VARIANTS BHC
HIS-172 AND SER-208.
PubMed=26723978; DOI=10.1016/j.jns.2015.11.050;
Provenzano C., Zamboni M., Veneziano L., Mantuano E., Garavaglia B.,
Zorzi G., Pagonabarraga J., Giunti P., Civitareale D.;
"Functional characterization of two novel mutations in TTF-1/NKX2.1
homeodomain in patients with benign hereditary chorea.";
J. Neurol. Sci. 360:78-83(2016).
-!- 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}.
-!- SUBUNIT: Interacts with WWTR1. {ECO:0000269|PubMed:19010321}.
-!- INTERACTION:
Q9P031:CCDC59; NbExp=4; IntAct=EBI-1391923, EBI-1047110;
P16333:NCK1; NbExp=2; IntAct=EBI-1391923, EBI-389883;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P50220}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=P43699-1; Sequence=Displayed;
Name=3;
IsoId=P43699-3; Sequence=VSP_037890;
-!- TISSUE SPECIFICITY: Thyroid and lung.
-!- PTM: Phosphorylated on serine residues by STK3/MST2.
{ECO:0000250}.
-!- 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 mutations 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 mutations 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 variations
affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the NK-2 homeobox family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAH06221.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=BAA23527.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/NKX2-1ID44015ch14q13.html";
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EMBL; U19756; AAA86099.1; -; mRNA.
EMBL; X82850; CAA58053.1; -; mRNA.
EMBL; U19816; AAC50125.1; -; Genomic_DNA.
EMBL; U33749; AAB52381.1; -; mRNA.
EMBL; U43203; AAA89066.1; -; mRNA.
EMBL; D50739; BAA23527.1; ALT_SEQ; Genomic_DNA.
EMBL; D50740; BAA23529.1; -; mRNA.
EMBL; BT009773; AAP88775.1; -; mRNA.
EMBL; AL132857; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471078; EAW65858.1; -; Genomic_DNA.
EMBL; CH471078; EAW65856.1; -; Genomic_DNA.
EMBL; CH471078; EAW65859.1; -; Genomic_DNA.
EMBL; BC006221; AAH06221.2; ALT_INIT; mRNA.
CCDS; CCDS41945.1; -. [P43699-3]
CCDS; CCDS9659.1; -. [P43699-1]
PIR; G02321; G02321.
RefSeq; NP_001073136.1; NM_001079668.2. [P43699-3]
RefSeq; NP_003308.1; NM_003317.3. [P43699-1]
UniGene; Hs.94367; -.
ProteinModelPortal; P43699; -.
SMR; P43699; -.
BioGrid; 112936; 11.
IntAct; P43699; 8.
MINT; P43699; -.
STRING; 9606.ENSP00000346879; -.
iPTMnet; P43699; -.
PhosphoSitePlus; P43699; -.
BioMuta; NKX2-1; -.
DMDM; 1174819; -.
MaxQB; P43699; -.
PaxDb; P43699; -.
PeptideAtlas; P43699; -.
PRIDE; P43699; -.
ProteomicsDB; 55653; -.
ProteomicsDB; 55654; -. [P43699-3]
DNASU; 7080; -.
Ensembl; ENST00000354822; ENSP00000346879; ENSG00000136352. [P43699-3]
Ensembl; ENST00000498187; ENSP00000429607; ENSG00000136352. [P43699-1]
Ensembl; ENST00000518149; ENSP00000428341; ENSG00000136352. [P43699-1]
Ensembl; ENST00000522719; ENSP00000429519; ENSG00000136352. [P43699-1]
GeneID; 7080; -.
KEGG; hsa:7080; -.
UCSC; uc001wtt.4; human. [P43699-1]
CTD; 7080; -.
DisGeNET; 7080; -.
EuPathDB; HostDB:ENSG00000136352.17; -.
GeneCards; NKX2-1; -.
HGNC; HGNC:11825; NKX2-1.
HPA; CAB000078; -.
HPA; CAB053633; -.
HPA; HPA074316; -.
MalaCards; NKX2-1; -.
MIM; 118700; phenotype.
MIM; 188550; phenotype.
MIM; 600635; gene.
MIM; 610978; phenotype.
neXtProt; NX_P43699; -.
OpenTargets; ENSG00000136352; -.
Orphanet; 95713; Athyreosis.
Orphanet; 1429; Benign familial chorea.
Orphanet; 209905; Brain-lung-thyroid syndrome.
Orphanet; 146; Papillary or follicular thyroid carcinoma.
Orphanet; 95720; Thyroid hypoplasia.
PharmGKB; PA36531; -.
eggNOG; KOG0842; Eukaryota.
eggNOG; ENOG410XR21; LUCA.
GeneTree; ENSGT00910000144003; -.
HOGENOM; HOG000231923; -.
HOVERGEN; HBG006689; -.
InParanoid; P43699; -.
KO; K09342; -.
OMA; MGHNGTV; -.
OrthoDB; EOG091G0LZ2; -.
PhylomeDB; P43699; -.
TreeFam; TF351204; -.
SIGNOR; P43699; -.
GeneWiki; NK2_homeobox_1; -.
GenomeRNAi; 7080; -.
PRO; PR:P43699; -.
Proteomes; UP000005640; Chromosome 14.
Bgee; ENSG00000136352; -.
CleanEx; HS_NKX2-1; -.
CleanEx; HS_TTF1; -.
ExpressionAtlas; P43699; baseline and differential.
Genevisible; P43699; HS.
GO; GO:0005654; C:nucleoplasm; ISS:UniProtKB.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0005667; C:transcription factor complex; IEA:Ensembl.
GO; GO:0003677; F:DNA binding; IMP:UniProtKB.
GO; GO:0003700; F:DNA binding transcription factor activity; IDA:UniProtKB.
GO; GO:0019899; F:enzyme binding; IPI:UniProtKB.
GO; GO:0044213; F:intronic transcription regulatory region DNA binding; IDA:MGI.
GO; GO:0001161; F:intronic transcription regulatory region sequence-specific DNA binding; ISS:UniProtKB.
GO; GO:0000980; F:RNA polymerase II distal enhancer sequence-specific DNA binding; ISS:UniProtKB.
GO; GO:0000978; F:RNA polymerase II proximal promoter sequence-specific DNA binding; ISS:UniProtKB.
GO; GO:0001012; F:RNA polymerase II regulatory region DNA binding; IDA:MGI.
GO; GO:0000977; F:RNA polymerase II regulatory region sequence-specific DNA binding; IDA:MGI.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; ISA:NTNU_SB.
GO; GO:0003705; F:transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding; IEA:Ensembl.
GO; GO:0044212; F:transcription regulatory region DNA binding; IDA:UniProtKB.
GO; GO:0048646; P:anatomical structure formation involved in morphogenesis; IEA:Ensembl.
GO; GO:0007411; P:axon guidance; IEA:Ensembl.
GO; GO:0007420; P:brain development; IMP:UniProtKB.
GO; GO:0021795; P:cerebral cortex cell migration; IEA:Ensembl.
GO; GO:0021892; P:cerebral cortex GABAergic interneuron differentiation; IEA:Ensembl.
GO; GO:0060486; P:Clara cell differentiation; IEA:Ensembl.
GO; GO:0031128; P:developmental induction; IEA:Ensembl.
GO; GO:0007492; P:endoderm development; IEA:Ensembl.
GO; GO:0060441; P:epithelial tube branching involved in lung morphogenesis; IEP:UniProtKB.
GO; GO:0030900; P:forebrain development; IEP:UniProtKB.
GO; GO:0021798; P:forebrain dorsal/ventral pattern formation; IEA:Ensembl.
GO; GO:0021877; P:forebrain neuron fate commitment; IEA:Ensembl.
GO; GO:0021759; P:globus pallidus development; IMP:UniProtKB.
GO; GO:0021766; P:hippocampus development; IEA:Ensembl.
GO; GO:0033327; P:Leydig cell differentiation; IEA:Ensembl.
GO; GO:0007626; P:locomotory behavior; IEA:Ensembl.
GO; GO:0030324; P:lung development; IEP:UniProtKB.
GO; GO:0060430; P:lung saccule development; IEA:Ensembl.
GO; GO:0030336; P:negative regulation of cell migration; IDA:UniProtKB.
GO; GO:0010719; P:negative regulation of epithelial to mesenchymal transition; IDA:UniProtKB.
GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:MGI.
GO; GO:0045892; P:negative regulation of transcription, DNA-templated; ISS:UniProtKB.
GO; GO:0030512; P:negative regulation of transforming growth factor beta receptor signaling pathway; IDA:UniProtKB.
GO; GO:0001764; P:neuron migration; IEA:Ensembl.
GO; GO:0048709; P:oligodendrocyte differentiation; IEA:Ensembl.
GO; GO:0006644; P:phospholipid metabolic process; IEA:Ensembl.
GO; GO:0021983; P:pituitary gland development; IEA:Ensembl.
GO; GO:0042753; P:positive regulation of circadian rhythm; ISS:UniProtKB.
GO; GO:0010628; P:positive regulation of gene expression; IDA:UniProtKB.
GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:UniProtKB.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
GO; GO:0009725; P:response to hormone; IEP:UniProtKB.
GO; GO:0048511; P:rhythmic process; IEA:UniProtKB-KW.
GO; GO:0030878; P:thyroid gland development; IMP:UniProtKB.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
GO; GO:0060510; P:Type II pneumocyte differentiation; IEA:Ensembl.
CDD; cd00086; homeodomain; 1.
InterPro; IPR009057; Homeobox-like_sf.
InterPro; IPR017970; Homeobox_CS.
InterPro; IPR001356; Homeobox_dom.
InterPro; IPR020479; Homeobox_metazoa.
Pfam; PF00046; Homeobox; 1.
PRINTS; PR00024; HOMEOBOX.
SMART; SM00389; HOX; 1.
SUPFAM; SSF46689; SSF46689; 1.
PROSITE; PS00027; HOMEOBOX_1; 1.
PROSITE; PS50071; HOMEOBOX_2; 1.
1: Evidence at protein level;
Activator; Alternative splicing; Biological rhythms;
Complete proteome; Congenital hypothyroidism; Disease mutation;
DNA-binding; Homeobox; Nucleus; Phosphoprotein; Reference proteome;
Repressor; Transcription; Transcription regulation.
CHAIN 1 371 Homeobox protein Nkx-2.1.
/FTId=PRO_0000049343.
DNA_BIND 161 220 Homeobox. {ECO:0000255|PROSITE-
ProRule:PRU00108}.
COMPBIAS 234 243 Poly-Gly.
COMPBIAS 246 253 Poly-Gln.
COMPBIAS 294 303 Poly-Ala.
MOD_RES 254 254 Phosphoserine.
{ECO:0000250|UniProtKB:P23441}.
VAR_SEQ 1 1 M -> MWSGGSGKARGWEAAAGGRSSPGRLSRRRIM (in
isoform 3). {ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:9545595,
ECO:0000303|Ref.6}.
/FTId=VSP_037890.
VARIANT 172 172 Q -> H (in BHC; decrease in DNA-binding;
no effect on transcription activation
from thyroglobulin/TG, nor from pulmonary
surfactant-associated protein C/SFTPC
gene promoters).
{ECO:0000269|PubMed:26723978}.
/FTId=VAR_075209.
VARIANT 179 179 R -> P (in BHC; unknown pathological
significance).
{ECO:0000269|PubMed:24453141}.
/FTId=VAR_077542.
VARIANT 203 203 T -> R (in CAHTP).
{ECO:0000269|PubMed:24714694}.
/FTId=VAR_073040.
VARIANT 205 205 V -> F (in CAHTP; dbSNP:rs137852692).
{ECO:0000269|PubMed:11854319,
ECO:0000269|PubMed:24714694}.
/FTId=VAR_034906.
VARIANT 208 208 W -> L (in BHC; dbSNP:rs28936672).
{ECO:0000269|PubMed:11971878}.
/FTId=VAR_015188.
VARIANT 208 208 W -> S (in BHC; loss of transcription
activation).
{ECO:0000269|PubMed:26723978}.
/FTId=VAR_075210.
VARIANT 213 213 R -> S (in BHC; dbSNP:rs28936671).
{ECO:0000269|PubMed:11971878}.
/FTId=VAR_015189.
VARIANT 339 339 A -> V (in NMTC1; loss of transcription
regulatory region DNA binding; decreased
transcription factor activity, sequence-
specific DNA binding; tested for the
thyroglobulin gene; associated with
dominant impairment of thyroid-specific
genes transcription and increased thyroid
cells proliferation; dbSNP:rs537209983).
{ECO:0000269|PubMed:19176457}.
/FTId=VAR_075769.
CONFLICT 49 49 P -> H (in Ref. 5; BAA23527/BAA23529).
{ECO:0000305}.
CONFLICT 61 61 H -> P (in Ref. 5; BAA23527/BAA23529).
{ECO:0000305}.
CONFLICT 158 158 S -> T (in Ref. 5; BAA23527/BAA23529).
{ECO:0000305}.
CONFLICT 161 161 R -> G (in Ref. 5; BAA23527/BAA23529).
{ECO:0000305}.
SEQUENCE 371 AA; 38596 MW; 5F1E3B40A1BBD862 CRC64;
MSMSPKHTTP FSVSDILSPL EESYKKVGME GGGLGAPLAA YRQGQAAPPT AAMQQHAVGH
HGAVTAAYHM TAAGVPQLSH SAVGGYCNGN LGNMSELPPY QDTMRNSASG PGWYGANPDP
RFPAISRFMG PASGMNMSGM GGLGSLGDVS KNMAPLPSAP RRKRRVLFSQ AQVYELERRF
KQQKYLSAPE REHLASMIHL TPTQVKIWFQ NHRYKMKRQA KDKAAQQQLQ QDSGGGGGGG
GTGCPQQQQA QQQSPRRVAV PVLVKDGKPC QAGAPAPGAA SLQGHAQQQA QHQAQAAQAA
AAAISVGSGG AGLGAHPGHQ PGSAGQSPDL AHHAASPAAL QGQVSSLSHL NSSGSDYGTM
SCSTLLYGRT W


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