GENTAUR Molecular Products.

 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.
 13-FEB-2019, entry version 186.
 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; 162.
 IntAct; P43699; 10.
 MINT; P43699; -.
 STRING; 9606.ENSP00000346879; -.
 iPTMnet; P43699; -.
 PhosphoSitePlus; P43699; -.
 BioMuta; NKX2-1; -.
 DMDM; 1174819; -.
 jPOST; P43699; -.
 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; -.
 GeneReviews; 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 hereditary chorea.
 Orphanet; 209905; Brain-lung-thyroid syndrome.
 Orphanet; 146; Differentiated thyroid carcinoma.
 PharmGKB; PA36531; -.
 eggNOG; KOG0842; Eukaryota.
 eggNOG; ENOG410XR21; LUCA.
 GeneTree; ENSGT00940000161107; -.
 HOGENOM; HOG000231923; -.
 HOVERGEN; HBG006689; -.
 InParanoid; P43699; -.
 KO; K09342; -.
 OMA; MGHNGTV; -.
 OrthoDB; 863952at2759; -.
 PhylomeDB; P43699; -.
 TreeFam; TF351204; -.
 SIGNOR; P43699; -.
 GeneWiki; NK2_homeobox_1; -.
 GenomeRNAi; 7080; -.
 PRO; PR:P43699; -.
 Proteomes; UP000005640; Chromosome 14.
 Bgee; ENSG00000136352; Expressed in 79 organ(s), highest expression level in left lobe of thyroid gland.
 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:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
 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:0043565; F:sequence-specific DNA binding; IBA:GO_Central.
 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:0030154; P:cell differentiation; IBA:GO_Central.
 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: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; Homeodomain; 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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