LOCUS       NM_001079668            2190 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.
ACCESSION   NM_001079668
VERSION     NM_001079668.3
KEYWORDS    RefSeq; MANE Select.
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 2190)
  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 2190)
  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 2190)
  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 2190)
  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 2190)
  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 2190)
  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 2190)
  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 2190)
  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 2190)
  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 2190)
  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 AL132857.4, U43203.1 and
            BM970287.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001079668.2.
            
            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 (1) encodes the longer protein
            (isoform 1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC006221.2, U43203.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147920, SAMEA2155770
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354822.7/ ENSP00000346879.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                AL132857.4         67142-67162
            22-676              U43203.1           1-655
            677-677             AL132857.4         69464-69464
            678-1518            U43203.1           657-1497
            1519-1602           AL132857.4         70306-70389
            1603-2190           BM970287.1         15-602              c
FEATURES             Location/Qualifiers
     source          1..2190
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q13.3"
     gene            1..2190
                     /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..180
                     /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             104..1309
                     /gene="NKX2-1"
                     /gene_synonym="BCH; BHC; NK-2; NKX2.1; NKX2A; NMTC1;
                     T/EBP; TEBP; TITF1; TTF-1; TTF1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_001073136.1"
                     /db_xref="CCDS:CCDS41945.1"
                     /db_xref="GeneID:7080"
                     /db_xref="HGNC:HGNC:11825"
                     /db_xref="MIM:600635"
                     /translation="MWSGGSGKARGWEAAAGGRSSPGRLSRRRIMSMSPKHTTPFSVS
                     DILSPLEESYKKVGMEGGGLGAPLAAYRQGQAAPPTAAMQQHAVGHHGAVTAAYHMTA
                     AGVPQLSHSAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDPRFPAISRFMG
                     PASGMNMSGMGGLGSLGDVSKNMAPLPSAPRRKRRVLFSQAQVYELERRFKQQKYLSA
                     PEREHLASMIHLTPTQVKIWFQNHRYKMKRQAKDKAAQQQLQQDSGGGGGGGGTGCPQ
                     QQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAASLQGHAQQQAQHQAQAAQAAAAAI
                     SVGSGGAGLGAHPGHQPGSAGQSPDLAHHAASPAALQGQVSSLSHLNSSGSDYGTMSC
                     STLLYGRTW"
     exon            181..566
                     /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"
     exon            567..2190
                     /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      2154..2159
                     /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      2163..2168
                     /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      2172
                     /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      2190
                     /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 agacagactg acagacacgt agaccaacag tgcggcccca gggttcgtcc ccagactcgc
       61 tcgctcattt gttggcgact ggggctcagc gcagcgaagc ccgatgtggt ccggaggcag
      121 tgggaaggcg cggggctggg aggccgcggc gggagggagg agcagccccg gcaggctcag
      181 ccgccgccga atcatgtcga tgagtccaaa gcacacgact ccgttctcag tgtctgacat
      241 cttgagtccc ctggaggaaa gctacaagaa agtgggcatg gagggcggcg gcctcggggc
      301 tccgctggcg gcgtacaggc agggccaggc ggcaccgcca acagcggcca tgcagcagca
      361 cgccgtgggg caccacggcg ccgtcaccgc cgcctaccac atgacggcgg cgggggtgcc
      421 ccagctctcg cactccgccg tggggggcta ctgcaacggc aacctgggca acatgagcga
      481 gctgccgccg taccaggaca ccatgaggaa cagcgcctct ggccccggat ggtacggcgc
      541 caacccagac ccgcgcttcc ccgccatctc ccgcttcatg ggcccggcga gcggcatgaa
      601 catgagcggc atgggcggcc tgggctcgct gggggacgtg agcaagaaca tggccccgct
      661 gccaagcgcg ccgcgcagga agcgccgggt gctcttctcg caggcgcagg tgtacgagct
      721 ggagcgacgc ttcaagcaac agaagtacct gtcggcgccg gagcgcgagc acctggccag
      781 catgatccac ctgacgccca cgcaggtcaa gatctggttc cagaaccacc gctacaaaat
      841 gaagcgccag gccaaggaca aggcggcgca gcagcaactg cagcaggaca gcggcggcgg
      901 cgggggcggc gggggcaccg ggtgcccgca gcagcaacag gctcagcagc agtcgccgcg
      961 acgcgtggcg gtgccggtcc tggtgaaaga cggcaaaccg tgccaggcgg gtgcccccgc
     1021 gccgggcgcc gccagcctac aaggccacgc gcagcagcag gcgcagcacc aggcgcaggc
     1081 cgcgcaggcg gcggcagcgg ccatctccgt gggcagcggt ggcgccggcc ttggcgcaca
     1141 cccgggccac cagccaggca gcgcaggcca gtctccggac ctggcgcacc acgccgccag
     1201 ccccgcggcg ctgcagggcc aggtatccag cctgtcccac ctgaactcct cgggctcgga
     1261 ctacggcacc atgtcctgct ccaccttgct atacggtcgg acctggtgag aggacgccgg
     1321 gccggcccta gcccagcgct ctgcctcacc gcttccctcc tgcccgccac acagaccacc
     1381 atccaccgct gctccacgcg cttcgacttt tcttaacaac ctggccgcgt ttagaccaag
     1441 gaacaaaaaa accacaaagg ccaaactgct ggacgtcttt ctttttttcc ccccctaaaa
     1501 tttgtgggtt ttttttttta aaaaaagaaa atgaaaaaca accaagcgca tccaatctca
     1561 aggaatcttt aagcagagaa gggcataaaa cagctttggg gtgtcttttt ttggtgattc
     1621 aaatgggttt tccacgctag ggcggggcac agattggaga gggctctgtg ctgacatggc
     1681 tctggactct aaagaccaaa cttcactctg ggcacactct gccagcaaag aggactcgct
     1741 tgtaaatacc aggatttttt tttttttttg aagggaggac gggagctggg gagaggaaag
     1801 agtcttcaac ataacccact tgtcactgac acaaaggaag tgccccctcc ccggcaccct
     1861 ctggccgcct aggctcagcg gcgaccgccc tccgcgaaaa tagtttgttt aatgtgaact
     1921 tgtagctgta aaacgctgtc aaaagttgga ctaaatgcct agtttttagt aatctgtaca
     1981 ttttgttgta aaaagaaaaa ccactcccag tccccagccc ttcacatttt ttatgggcat
     2041 tgacaaatct gtgtatatta tttggcagtt tggtatttgc ggcgtcagtc tttttctgtt
     2101 gtaacttatg tagatatttg gcttaaatat agttcctaag aagcttctaa taaattatac
     2161 aaattaaaaa gattcttttt ctgattaaaa
//
