LOCUS       NM_003317               2196 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 2, mRNA.
ACCESSION   NM_003317 XM_002344771
VERSION     NM_003317.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2196)
  AUTHORS   Javadirad,S.M.
  TITLE     NKX2-1 gene is targeted by H19 lncRNA and is found to be
            overexpressed in benign nodular goiter tissues
  JOURNAL   Braz J Otorhinolaryngol 90 (4), 101409 (2024)
   PUBMED   38537502
  REMARK    GeneRIF: NKX2-1 gene is targeted by H19 lncRNA and is found to be
            overexpressed in benign nodular goiter tissues.
REFERENCE   2  (bases 1 to 2196)
  AUTHORS   Ji,N., Lee,Y., Lee,S.H. and Kim,H.S.
  TITLE     Diagnostic Value of Immunostaining for Thyroid Transcription Factor
            1 (TTF1) and Paired Box 8 (PAX8) in Distinguishing Pulmonary
            Metastases of Mesonephric and Mesonephric-like Adenocarcinomas from
            Primary Lung Adenocarcinomas
  JOURNAL   Anticancer Res 44 (5), 2159-2170 (2024)
   PUBMED   38677751
  REMARK    GeneRIF: Diagnostic Value of Immunostaining for Thyroid
            Transcription Factor 1 (TTF1) and Paired Box 8 (PAX8) in
            Distinguishing Pulmonary Metastases of Mesonephric and
            Mesonephric-like Adenocarcinomas from Primary Lung Adenocarcinomas.
REFERENCE   3  (bases 1 to 2196)
  AUTHORS   Wang,H., Jiang,G., Dai,D., Hong,D., Zhou,W. and Qian,L.
  TITLE     Functional characterization of two novel NKX2-1 frameshift variants
            that cause pulmonary surfactant dysfunction
  JOURNAL   Pediatr Res 95 (3), 744-751 (2024)
   PUBMED   37935886
  REMARK    GeneRIF: Functional characterization of two novel NKX2-1 frameshift
            variants that cause pulmonary surfactant dysfunction.
REFERENCE   4  (bases 1 to 2196)
  AUTHORS   Heylen,E., Verstraete,P., Van Aerschot,L., Geeraerts,S.L.,
            Venken,T., Timcheva,K., Nittner,D., Verbeeck,J., Royaert,J.,
            Gijbels,M., Uyttebroeck,A., Segers,H., Lambrechts,D., Cools,J., De
            Keersmaecker,K. and Kampen,K.R.
  TITLE     Transcription factor NKX2-1 drives serine and glycine synthesis
            addiction in cancer
  JOURNAL   Br J Cancer 128 (10), 1862-1878 (2023)
   PUBMED   36932191
  REMARK    GeneRIF: Transcription factor NKX2-1 drives serine and glycine
            synthesis addiction in cancer.
REFERENCE   5  (bases 1 to 2196)
  AUTHORS   Ebisudani,T., Hamamoto,J., Togasaki,K., Mitsuishi,A., Sugihara,K.,
            Shinozaki,T., Fukushima,T., Kawasaki,K., Seino,T., Oda,M.,
            Hanyu,H., Toshimitsu,K., Emoto,K., Hayashi,Y., Asakura,K.,
            Johnson,T.A., Terai,H., Ikemura,S., Kawada,I., Ishii,M.,
            Hishida,T., Asamura,H., Soejima,K., Nakagawa,H., Fujii,M.,
            Fukunaga,K., Yasuda,H. and Sato,T.
  TITLE     Genotype-phenotype mapping of a patient-derived lung cancer
            organoid biobank identifies NKX2-1-defined Wnt dependency in lung
            adenocarcinoma
  JOURNAL   Cell Rep 42 (3), 112212 (2023)
   PUBMED   36870059
  REMARK    GeneRIF: Genotype-phenotype mapping of a patient-derived lung
            cancer organoid biobank identifies NKX2-1-defined Wnt dependency in
            lung adenocarcinoma.
REFERENCE   6  (bases 1 to 2196)
  AUTHORS   Yan,C., Sever,Z. and Whitsett,J.A.
  TITLE     Upstream enhancer activity in the human surfactant protein B gene
            is mediated by thyroid transcription factor 1
  JOURNAL   J Biol Chem 270 (42), 24852-24857 (1995)
   PUBMED   7559607
REFERENCE   7  (bases 1 to 2196)
  AUTHORS   Acebron,A., Aza-Blanc,P., Rossi,D.L., Lamas,L. and Santisteban,P.
  TITLE     Congenital human thyroglobulin defect due to low expression of the
            thyroid-specific transcription factor TTF-1
  JOURNAL   J Clin Invest 96 (2), 781-785 (1995)
   PUBMED   7635972
REFERENCE   8  (bases 1 to 2196)
  AUTHORS   Patel,N.J. and Jankovic,J.
  TITLE     NKX2-1-Related Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24555207
REFERENCE   9  (bases 1 to 2196)
  AUTHORS   Abramowicz,M.J., Vassart,G. and Christophe,D.
  TITLE     Functional study of the human thyroid peroxidase gene promoter
  JOURNAL   Eur J Biochem 203 (3), 467-473 (1992)
   PUBMED   1735431
REFERENCE   10 (bases 1 to 2196)
  AUTHORS   Guazzi,S., Price,M., De Felice,M., Damante,G., Mattei,M.G. and Di
            Lauro,R.
  TITLE     Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and
            displays a novel DNA binding specificity
  JOURNAL   EMBO J 9 (11), 3631-3639 (1990)
   PUBMED   1976511
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U33749.1, BC006221.2 and
            BM970838.1.
            
            On Jun 2, 2019 this sequence version replaced NM_003317.3.
            
            Summary: 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].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding region compared to variant 1. The resulting protein (isoform
            2) is shorter and has a distinct N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR279835.7804.1, DRR138524.267689.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147920, SAMEA2155770
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-675               U33749.1           143-817
            676-1524            BC006221.2         597-1445
            1525-1532           BM970838.1         12-19               c
            1533-2196           BC006221.2         1454-2117
FEATURES             Location/Qualifiers
     source          1..2196
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q13.3"
     gene            1..2196
                     /gene="NKX2-1"
                     /gene_synonym="BCH; BHC; NK-2; NKX2.1; NKX2A; NMTC1;
                     T/EBP; TEBP; TITF1; TTF-1; TTF1"
                     /note="NK2 homeobox 1"
                     /db_xref="GeneID:7080"
                     /db_xref="HGNC:HGNC:11825"
                     /db_xref="MIM:600635"
     exon            1..572
                     /gene="NKX2-1"
                     /gene_synonym="BCH; BHC; NK-2; NKX2.1; NKX2A; NMTC1;
                     T/EBP; TEBP; TITF1; TTF-1; TTF1"
                     /inference="alignment:Splign:2.1.0"
     CDS             200..1315
                     /gene="NKX2-1"
                     /gene_synonym="BCH; BHC; NK-2; NKX2.1; NKX2A; NMTC1;
                     T/EBP; TEBP; TITF1; TTF-1; TTF1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     thyroid transcription factor 1; homeobox protein Nkx-2.1;
                     NK-2 homolog A; thyroid nuclear factor 1; homeobox protein
                     NK-2 homolog A; thyroid-specific enhancer-binding protein"
                     /codon_start=1
                     /product="homeobox protein Nkx-2.1 isoform 2"
                     /protein_id="NP_003308.1"
                     /db_xref="CCDS:CCDS9659.1"
                     /db_xref="GeneID:7080"
                     /db_xref="HGNC:HGNC:11825"
                     /db_xref="MIM:600635"
                     /translation="MSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLGAPLAAYRQG
                     QAAPPTAAMQQHAVGHHGAVTAAYHMTAAGVPQLSHSAVGGYCNGNLGNMSELPPYQD
                     TMRNSASGPGWYGANPDPRFPAISRFMGPASGMNMSGMGGLGSLGDVSKNMAPLPSAP
                     RRKRRVLFSQAQVYELERRFKQQKYLSAPEREHLASMIHLTPTQVKIWFQNHRYKMKR
                     QAKDKAAQQQLQQDSGGGGGGGGTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPA
                     PGAASLQGHAQQQAQHQAQAAQAAAAAISVGSGGAGLGAHPGHQPGSAGQSPDLAHHA
                     ASPAALQGQVSSLSHLNSSGSDYGTMSCSTLLYGRTW"
     exon            573..2196
                     /gene="NKX2-1"
                     /gene_synonym="BCH; BHC; NK-2; NKX2.1; NKX2A; NMTC1;
                     T/EBP; TEBP; TITF1; TTF-1; TTF1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2160..2165
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NKX2-1"
                     /gene_synonym="BCH; BHC; NK-2; NKX2.1; NKX2A; NMTC1;
                     T/EBP; TEBP; TITF1; TTF-1; TTF1"
                     /note="hexamer: ATTATA"
     regulatory      2169..2174
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NKX2-1"
                     /gene_synonym="BCH; BHC; NK-2; NKX2.1; NKX2A; NMTC1;
                     T/EBP; TEBP; TITF1; TTF-1; TTF1"
                     /note="hexamer: ATTAAA"
     polyA_site      2178
                     /gene="NKX2-1"
                     /gene_synonym="BCH; BHC; NK-2; NKX2.1; NKX2A; NMTC1;
                     T/EBP; TEBP; TITF1; TTF-1; TTF1"
                     /note="major polyA site"
     polyA_site      2196
                     /gene="NKX2-1"
                     /gene_synonym="BCH; BHC; NK-2; NKX2.1; NKX2A; NMTC1;
                     T/EBP; TEBP; TITF1; TTF-1; TTF1"
                     /note="major polyA site"
ORIGIN      
        1 gcgaggcagc ccccgagcct ccactcaagc caattaagga ggactcggtc cactccgtta
       61 cgtgtacatc caacaagatc ggcgttaagg taacaccaga atatttggca aagggagaaa
      121 aaaaaagcag cgaggcttcg ccttccccct ctcccttttt tttcctcctc ttccttcctc
      181 ctccagccgc cgccgaatca tgtcgatgag tccaaagcac acgactccgt tctcagtgtc
      241 tgacatcttg agtcccctgg aggaaagcta caagaaagtg ggcatggagg gcggcggcct
      301 cggggctccg ctggcggcgt acaggcaggg ccaggcggca ccgccaacag cggccatgca
      361 gcagcacgcc gtggggcacc acggcgccgt caccgccgcc taccacatga cggcggcggg
      421 ggtgccccag ctctcgcact ccgccgtggg gggctactgc aacggcaacc tgggcaacat
      481 gagcgagctg ccgccgtacc aggacaccat gaggaacagc gcctctggcc ccggatggta
      541 cggcgccaac ccagacccgc gcttccccgc catctcccgc ttcatgggcc cggcgagcgg
      601 catgaacatg agcggcatgg gcggcctggg ctcgctgggg gacgtgagca agaacatggc
      661 cccgctgcca agcgcgccgc gcaggaagcg ccgggtgctc ttctcgcagg cgcaggtgta
      721 cgagctggag cgacgcttca agcaacagaa gtacctgtcg gcgccggagc gcgagcacct
      781 ggccagcatg atccacctga cgcccacgca ggtcaagatc tggttccaga accaccgcta
      841 caaaatgaag cgccaggcca aggacaaggc ggcgcagcag caactgcagc aggacagcgg
      901 cggcggcggg ggcggcgggg gcaccgggtg cccgcagcag caacaggctc agcagcagtc
      961 gccgcgacgc gtggcggtgc cggtcctggt gaaagacggc aaaccgtgcc aggcgggtgc
     1021 ccccgcgccg ggcgccgcca gcctacaagg ccacgcgcag cagcaggcgc agcaccaggc
     1081 gcaggccgcg caggcggcgg cagcggccat ctccgtgggc agcggtggcg ccggccttgg
     1141 cgcacacccg ggccaccagc caggcagcgc aggccagtct ccggacctgg cgcaccacgc
     1201 cgccagcccc gcggcgctgc agggccaggt atccagcctg tcccacctga actcctcggg
     1261 ctcggactac ggcaccatgt cctgctccac cttgctatac ggtcggacct ggtgagagga
     1321 cgccgggccg gccctagccc agcgctctgc ctcaccgctt ccctcctgcc cgccacacag
     1381 accaccatcc accgctgctc cacgcgcttc gacttttctt aacaacctgg ccgcgtttag
     1441 accaaggaac aaaaaaacca caaaggccaa actgctggac gtctttcttt ttttcccccc
     1501 ctaaaatttg tgggtttttt tttttaaaaa aagaaaatga aaaacaacca agcgcatcca
     1561 atctcaagga atctttaagc agagaagggc ataaaacagc tttggggtgt ctttttttgg
     1621 tgattcaaat gggttttcca cgctagggcg gggcacagat tggagagggc tctgtgctga
     1681 catggctctg gactctaaag accaaacttc actctgggca cactctgcca gcaaagagga
     1741 ctcgcttgta aataccagga tttttttttt tttttgaagg gaggacggga gctggggaga
     1801 ggaaagagtc ttcaacataa cccacttgtc actgacacaa aggaagtgcc ccctccccgg
     1861 caccctctgg ccgcctaggc tcagcggcga ccgccctccg cgaaaatagt ttgtttaatg
     1921 tgaacttgta gctgtaaaac gctgtcaaaa gttggactaa atgcctagtt tttagtaatc
     1981 tgtacatttt gttgtaaaaa gaaaaaccac tcccagtccc cagcccttca cattttttat
     2041 gggcattgac aaatctgtgt atattatttg gcagtttggt atttgcggcg tcagtctttt
     2101 tctgttgtaa cttatgtaga tatttggctt aaatatagtt cctaagaagc ttctaataaa
     2161 ttatacaaat taaaaagatt ctttttctga ttaaaa
//
