LOCUS       NM_005149               2985 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens T-box transcription factor 19 (TBX19), mRNA.
ACCESSION   NM_005149
VERSION     NM_005149.3
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 2985)
  AUTHORS   Uccella,S., Leoni,E., Kaiser,S., Maragliano,R., Valerio,A.,
            Libera,L., Tanda,M.L., Volante,M., Diviani,D. and La Rosa,S.
  TITLE     Heterogeneity of TPIT expression in ACTH-secreting extra-pituitary
            neuroendocrine tumors (NETs) supports the existence of different
            cellular programs in pancreatic and pulmonary NETs
  JOURNAL   Virchows Arch 483 (5), 635-643 (2023)
   PUBMED   37726450
  REMARK    GeneRIF: Heterogeneity of TPIT expression in ACTH-secreting
            extra-pituitary neuroendocrine tumors (NETs) supports the existence
            of different cellular programs in pancreatic and pulmonary NETs.
REFERENCE   2  (bases 1 to 2985)
  AUTHORS   Charnay,T., Mougel,G., Amouroux,C., Gueorguieva,I., Joubert,F.,
            Pertuit,M., Reynaud,R., Barlier,A., Brue,T. and Saveanu,A.
  TITLE     A novel TBX19 gene mutation in patients with isolated ACTH
            deficiency from distinct families with a common geographical origin
  JOURNAL   Front Endocrinol (Lausanne) 13, 1080649 (2023)
   PUBMED   36890856
  REMARK    GeneRIF: A novel TBX19 gene mutation in patients with isolated ACTH
            deficiency from distinct families with a common geographical
            origin.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2985)
  AUTHORS   Yao,H., Xie,W., Dai,Y., Liu,Y., Gu,W., Li,J., Wu,L., Xie,J.,
            Rui,W., Ren,B., Xue,L., Cheng,Y., Lin,S., Li,C., Tang,H., Wang,Y.,
            Lou,M., Zhang,X., Hu,R., Shang,H., Huang,J. and Wu,Z.B.
  TITLE     TRIM65 determines the fate of a novel subtype of pituitary
            neuroendocrine tumors via ubiquitination and degradation of TPIT
  JOURNAL   Neuro Oncol 24 (8), 1286-1297 (2022)
   PUBMED   35218667
  REMARK    GeneRIF: TRIM65 determines the fate of a novel subtype of pituitary
            neuroendocrine tumors via ubiquitination and degradation of TPIT.
REFERENCE   4  (bases 1 to 2985)
  AUTHORS   Ji,X., Chen,X., Zhang,B., Xie,M., Zhang,T., Luo,X., Liu,D.,
            Feng,Y., Wang,Y., Sun,M., Li,C., Huang,W. and Xia,L.
  TITLE     T-box transcription factor 19 promotes hepatocellular carcinoma
            metastasis through upregulating EGFR and RAC1
  JOURNAL   Oncogene 41 (15), 2225-2238 (2022)
   PUBMED   35217793
  REMARK    GeneRIF: T-box transcription factor 19 promotes hepatocellular
            carcinoma metastasis through upregulating EGFR and RAC1.
REFERENCE   5  (bases 1 to 2985)
  AUTHORS   Wu,S., Chen,Q., Shen,L., Wei,H. and Chen,Y.
  TITLE     [Analysis of TBX19 gene variant in a child with congenital isolated
            adrenocorticotropic hormone deficiency]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 38 (1), 59-62 (2021)
   PUBMED   33423260
  REMARK    GeneRIF: [Analysis of TBX19 gene variant in a child with congenital
            isolated adrenocorticotropic hormone deficiency].
REFERENCE   6  (bases 1 to 2985)
  AUTHORS   Pulichino,A.M., Vallette-Kasic,S., Tsai,J.P., Couture,C.,
            Gauthier,Y. and Drouin,J.
  TITLE     Tpit determines alternate fates during pituitary cell
            differentiation
  JOURNAL   Genes Dev 17 (6), 738-747 (2003)
   PUBMED   12651892
REFERENCE   7  (bases 1 to 2985)
  AUTHORS   Pulichino,A.M., Vallette-Kasic,S., Couture,C., Gauthier,Y.,
            Brue,T., David,M., Malpuech,G., Deal,C., Van Vliet,G., De
            Vroede,M., Riepe,F.G., Partsch,C.J., Sippell,W.G., Berberoglu,M.,
            Atasay,B. and Drouin,J.
  TITLE     Human and mouse TPIT gene mutations cause early onset pituitary
            ACTH deficiency
  JOURNAL   Genes Dev 17 (6), 711-716 (2003)
   PUBMED   12651888
  REMARK    GeneRIF: TPIT has a role in expression of the pro-opiomelanocortin
            gene and terminal differentiation of the pituitary corticotroph
            lineage, and its mutation causes early onset pituitary ACTH
            deficiency
REFERENCE   8  (bases 1 to 2985)
  AUTHORS   Asteria,C.
  TITLE     T-box and isolated ACTH deficiency
  JOURNAL   Eur J Endocrinol 146 (4), 463-465 (2002)
   PUBMED   11916612
  REMARK    GeneRIF: Review.  Association of 2 mutations with an ACTH
            deficiency is consistent with the role of tbx19 in differentiation
            of POMC cells.
            Review article
REFERENCE   9  (bases 1 to 2985)
  AUTHORS   Lamolet,B., Pulichino,A.M., Lamonerie,T., Gauthier,Y., Brue,T.,
            Enjalbert,A. and Drouin,J.
  TITLE     A pituitary cell-restricted T box factor, Tpit, activates POMC
            transcription in cooperation with Pitx homeoproteins
  JOURNAL   Cell 104 (6), 849-859 (2001)
   PUBMED   11290323
REFERENCE   10 (bases 1 to 2985)
  AUTHORS   Yi,C.H., Terrett,J.A., Li,Q.Y., Ellington,K., Packham,E.A.,
            Armstrong-Buisseret,L., McClure,P., Slingsby,T. and Brook,J.D.
  TITLE     Identification, mapping, and phylogenomic analysis of four new
            human members of the T-box gene family: EOMES, TBX6, TBX18, and
            TBX19
  JOURNAL   Genomics 55 (1), 10-20 (1999)
   PUBMED   9888994
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL009051.1, AJ010277.1 and
            AK091404.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005149.2.
            
            Summary: This gene is a member of a phylogenetically conserved
            family of genes that share a common DNA-binding domain, the T-box.
            T-box genes encode transcription factors involved in the regulation
            of developmental processes. Mutations in this gene were found in
            patients with isolated deficiency of pituitary POMC-derived ACTH,
            suggesting an essential role for this gene in differentiation of
            the pituitary POMC lineage. ACTH deficiency is characterized by
            adrenal insufficiency symptoms such as weight loss, lack of
            appetite (anorexia), weakness, nausea, vomiting, and low blood
            pressure. [provided by RefSeq, Jul 2008].
            
            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 :: AJ010277.1, BC093664.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367821.8/ ENSP00000356795.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-163               AL009051.1         41787-41949         c
            164-2503            AJ010277.1         1-2340
            2504-2983           AK091404.1         2037-2516
            2984-2985           AJ010277.1         2821-2822
FEATURES             Location/Qualifiers
     source          1..2985
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.2"
     gene            1..2985
                     /gene="TBX19"
                     /gene_synonym="dJ747L4.1; TBS19; TPIT"
                     /note="T-box transcription factor 19"
                     /db_xref="GeneID:9095"
                     /db_xref="HGNC:HGNC:11596"
                     /db_xref="MIM:604614"
     exon            1..417
                     /gene="TBX19"
                     /gene_synonym="dJ747L4.1; TBS19; TPIT"
                     /inference="alignment:Splign:2.1.0"
     CDS             215..1561
                     /gene="TBX19"
                     /gene_synonym="dJ747L4.1; TBS19; TPIT"
                     /note="TBS 19; T-box protein 19; T-box factor, pituitary;
                     T-box 19"
                     /codon_start=1
                     /product="T-box transcription factor TBX19"
                     /protein_id="NP_005140.1"
                     /db_xref="CCDS:CCDS1272.1"
                     /db_xref="GeneID:9095"
                     /db_xref="HGNC:HGNC:11596"
                     /db_xref="MIM:604614"
                     /translation="MAMSELGTRKPSDGTVSHLLNVVESELQAGREKGDPTEKQLQII
                     LEDAPLWQRFKEVTNEMIVTKNGRRMFPVLKISVTGLDPNAMYSLLLDFVPTDSHRWK
                     YVNGEWVPAGKPEVSSHSCVYIHPDSPNFGAHWMKAPISFSKVKLTNKLNGGGQIMLN
                     SLHKYEPQVHIVRVGSAHRMVTNCSFPETQFIAVTAYQNEEITALKIKYNPFAKAFLD
                     AKERNHLRDVPEAISESQHVTYSHLGGWIFSNPDGVCTAGNSNYQYAAPLPLPAPHTH
                     HGCEHYSGLRGHRQAPYPSAYMHRNHSPSVNLIESSSNNLQVFSGPDSWTSLSSTPHA
                     SILSVPHTNGPINPGPSPYPCLWTISNGAGGPSGPGPEVHASTPGAFLLGNPAVTSPP
                     SVLSTQAPTSAGVEVLGEPSLTSIAVSTWTAVASHPFAGWGGPGAGGHHSPSSLDG"
     exon            418..682
                     /gene="TBX19"
                     /gene_synonym="dJ747L4.1; TBS19; TPIT"
                     /inference="alignment:Splign:2.1.0"
     exon            683..817
                     /gene="TBX19"
                     /gene_synonym="dJ747L4.1; TBS19; TPIT"
                     /inference="alignment:Splign:2.1.0"
     exon            818..879
                     /gene="TBX19"
                     /gene_synonym="dJ747L4.1; TBS19; TPIT"
                     /inference="alignment:Splign:2.1.0"
     exon            880..941
                     /gene="TBX19"
                     /gene_synonym="dJ747L4.1; TBS19; TPIT"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1130
                     /gene="TBX19"
                     /gene_synonym="dJ747L4.1; TBS19; TPIT"
                     /inference="alignment:Splign:2.1.0"
     exon            1131..1266
                     /gene="TBX19"
                     /gene_synonym="dJ747L4.1; TBS19; TPIT"
                     /inference="alignment:Splign:2.1.0"
     exon            1267..2985
                     /gene="TBX19"
                     /gene_synonym="dJ747L4.1; TBS19; TPIT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2964..2969
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBX19"
                     /gene_synonym="dJ747L4.1; TBS19; TPIT"
                     /note="hexamer: AATAAA"
     polyA_site      2985
                     /gene="TBX19"
                     /gene_synonym="dJ747L4.1; TBS19; TPIT"
                     /note="major polyA site"
ORIGIN      
        1 accccgctcc ccaactaaag cttaacaggt tggtggcata atgtggagac ttttaagggg
       61 tgtcatccta ggagcttagg caagagccag ggtatcttct ctccgctccc caagcactgt
      121 tcaagtgggt ttgaaaagca ggcaagtgag ggaaggaaga agctagaagc aggcaagttg
      181 ggtaacggct ctcggcaaag ttcgagaagt gcctatggcc atgagtgagc tgggcactcg
      241 gaagcccagc gatggcactg tttctcatct gctcaatgtg gtggagagtg agcttcaggc
      301 agggagggaa aaaggcgacc ctacggagaa gcaacttcag atcatcctgg aggatgcacc
      361 tctctggcag agattcaagg aagtcactaa tgagatgatt gtgaccaaga atggcagacg
      421 gatgtttcca gtcctaaaga ttagtgtcac agggttggac cccaatgcca tgtactccct
      481 cctgctggac tttgtcccta cggacagtca ccgctggaag tacgtcaacg gggaatgggt
      541 gcccgctggc aagccagagg tctccagcca cagctgcgtc tacattcacc cggactcccc
      601 caactttggg gcccactgga tgaaagctcc catctccttc agcaaagtga agctgaccaa
      661 caagctcaat ggaggcgggc agataatgtt gaattctctg cataaatatg aaccccaggt
      721 tcacatagtg cgtgttggaa gtgcccatcg aatggtaaca aactgctcct tccctgaaac
      781 ccagttcata gccgtgactg cctatcagaa tgaggagata acggctctca aaatcaagta
      841 caatcctttt gccaaagcct tcttggatgc caaggaaaga aatcacctaa gagacgtacc
      901 ggaggctatc tctgagagcc agcatgtgac ctattctcac ttgggaggct ggatcttttc
      961 caatccagat ggagtgtgca cagcaggaaa ctccaattac cagtatgccg ctcctctgcc
     1021 tctgcctgct ccccacaccc accatggctg tgagcactat tcgggtctcc gaggacaccg
     1081 gcaggctccc tacccttctg cgtacatgca cagaaaccat tctccctcag tgaatttgat
     1141 agaaagctca agcaataatc tgcaagtttt ctcgggacct gacagctgga cttccttatc
     1201 ctccacaccc catgccagca tcctgtctgt accccacacc aacggaccaa tcaatccagg
     1261 gcccagcccc tacccgtgcc tgtggaccat cagcaatggt gccggaggcc ccagtgggcc
     1321 aggcccggag gtgcacgcca gcaccccagg agcatttctc ctcggaaacc cagctgtgac
     1381 ttcaccccct tctgtgctct ccacccaagc acccacttcg gctggtgtgg aggttctggg
     1441 ggagccctcg ctaaccagca ttgctgtgtc cacctggaca gcagtggcct cgcatccctt
     1501 cgcgggctgg ggtggcccag gagcgggtgg gcaccattct ccttcctcac tggatggtta
     1561 agcaggatcc taggagcctc tttgcacagc gatccttcca tgtgtagagt gcttagaaac
     1621 cccatcaact gatctagtga gtcagactgt ggaatctccc ttcccactag ctggaggtgg
     1681 aggtgggtta ttacagaagt catactggga gagggttcag tttggatgat gctagttaga
     1741 tcatttgcat ctctccacca ttttcttctg cactcccatt ttctctgcag cttattcttg
     1801 ccatgcttag gtgacagaag tttgttaagt accatccttg tgccctgcct cttattctca
     1861 aatcgttctg gaaagcctca cttccttttc tgtggagaag gtgcaaagct gttaaatgag
     1921 ctcagagttt acctagctaa ggccactgct tcctgctttg tgaagcctgg aaagtatgtg
     1981 tggccacagg gctcaggttc acacttctgc tttgagacca ggatggggtg taagccatag
     2041 agtaaggtta acaaaaagaa taaagctaat catgtattac aaacagcagt gtgcccagac
     2101 ttgtggaaat gaagtcatgt cactcctctg ctcagaaacc ttcaatggtt caccattacc
     2161 agtggaatga agtcaattct cctcactata actgggtgtg gtagtttaag cctataatct
     2221 cagccctttt ggaggccaag gtaagaggat cgcttgaggt caggagttcg agaccagctt
     2281 gtgcaacaaa gtgagagcct gtctctacaa aaaatagtca tgcacacaaa attagctggg
     2341 catggtggcc tgtgcctata gtcccaacta cttagaggag gatcgcttga tctcaggagg
     2401 ttgaggctgc agtgaattat gattgtggca ttgcactcca gcctgggtgg tagatcaagg
     2461 ctttgtttca tttgaaaaaa aagaaagaaa gaaagaaaga aagaaatcct actacgagcg
     2521 atcacaccat ctggcctgaa accacttccc cagcttaggt ccctctgtta tcctgttggc
     2581 ctcctatgta ttggtcaagg caggcatctc tgttctctga acattcattg cactttccca
     2641 cctctatacc ttgcctgtgc cttagtgtcc tcttttttcc agttcacctg tgcgaatccg
     2701 acccacctcc cagagcctgg ctgaaacgtc actccctgca tccaacatct gatctgctga
     2761 gatatgtctg atctatctct gctcgctgtt ctcccgttgt ttttgcctct gccatagagc
     2821 tcacctcatt ttgccttgta tttttgttac ctgtgagtgt gtctctccct attagactgt
     2881 aagcctctcg agggtgaggc ctagccttct tgtctttgta acccacagca gctggtactg
     2941 tgccttgcct attgtaggtg cccaataaac atttgctgaa ctgaa
//
