LOCUS       NM_005996               4733 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens T-box transcription factor 3 (TBX3), transcript
            variant 1, mRNA.
ACCESSION   NM_005996
VERSION     NM_005996.4
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 4733)
  AUTHORS   Deng,S., Lu,X., Wang,X., Liang,B., Xu,H., Yang,D., Cui,G.,
            Yonemura,A., Paine,H., Zhou,Y., Zhang,Y., Simile,M.M., Urigo,F.,
            Evert,M., Calvisi,D.F., Green,B.L. and Chen,X.
  TITLE     Overexpression of TBX3 suppresses tumorigenesis in experimental and
            human cholangiocarcinoma
  JOURNAL   Cell Death Dis 15 (6), 441 (2024)
   PUBMED   38909034
  REMARK    GeneRIF: Overexpression of TBX3 suppresses tumorigenesis in
            experimental and human cholangiocarcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4733)
  AUTHORS   Zhang,Z., Wu,Y., Fu,J., Yu,X., Su,Y., Jia,S., Cheng,H., Shen,Y.,
            He,X., Ren,K., Zheng,X., Guan,H., Rao,F. and Zhao,L.
  TITLE     Proteostatic reactivation of the developmental transcription factor
            TBX3 drives BRAF/MAPK-mediated tumorigenesis
  JOURNAL   Nat Commun 15 (1), 4108 (2024)
   PUBMED   38750011
  REMARK    GeneRIF: Proteostatic reactivation of the developmental
            transcription factor TBX3 drives BRAF/MAPK-mediated tumorigenesis.
            Erratum:[Nat Commun. 2024 Jun 10;15(1):4936. doi:
            10.1038/s41467-024-49330-w.. PMID: 38858379]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4733)
  AUTHORS   Higgins,G., Higgins,F., Peres,J., Lang,D.M., Abdalrahman,T.,
            Zaman,M.H., Prince,S. and Franz,T.
  TITLE     Intracellular mechanics and TBX3 expression jointly dictate the
            spreading mode of melanoma cells in 3D environments
  JOURNAL   Exp Cell Res 428 (2), 113633 (2023)
   PUBMED   37172754
  REMARK    GeneRIF: Intracellular mechanics and TBX3 expression jointly
            dictate the spreading mode of melanoma cells in 3D environments.
REFERENCE   4  (bases 1 to 4733)
  AUTHORS   Melzer,M.K., Schirge,S., Gout,J., Arnold,F., Srinivasan,D.,
            Burtscher,I., Allgower,C., Mulaw,M., Zengerling,F., Gunes,C.,
            Lickert,H., Christoffels,V.M., Liebau,S., Wagner,M.,
            Seufferlein,T., Bolenz,C., Moon,A.M., Perkhofer,L. and Kleger,A.
  TITLE     TBX3 is dynamically expressed in pancreatic organogenesis and
            fine-tunes regeneration
  JOURNAL   BMC Biol 21 (1), 55 (2023)
   PUBMED   36941669
  REMARK    GeneRIF: TBX3 is dynamically expressed in pancreatic organogenesis
            and fine-tunes regeneration.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4733)
  AUTHORS   Takeuchi,A., Asano,N., Imatani,A., Saito,M., Jin,X., Saito,M.,
            Kanno,T., Hatta,W., Uno,K., Koike,T. and Masamune,A.
  TITLE     Suppressed Cellular Senescence Mediated by T-box3 in Aged Gastric
            Epithelial Cells may Contribute to Aging-related Carcinogenesis
  JOURNAL   Cancer Res Commun 2 (8), 772-783 (2022)
   PUBMED   36923312
  REMARK    GeneRIF: Suppressed Cellular Senescence Mediated by T-box3 in Aged
            Gastric Epithelial Cells may Contribute to Aging-related
            Carcinogenesis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4733)
  AUTHORS   Carlson,H., Ota,S., Campbell,C.E. and Hurlin,P.J.
  TITLE     A dominant repression domain in Tbx3 mediates transcriptional
            repression and cell immortalization: relevance to mutations in Tbx3
            that cause ulnar-mammary syndrome
  JOURNAL   Hum Mol Genet 10 (21), 2403-2413 (2001)
   PUBMED   11689487
  REMARK    GeneRIF: Mutations in Tbx3 are responsible for ulnar-mammary
            syndrome (UMS), an autosomal dominant disorder affecting limb,
            tooth, hair, apocrine gland and genital development.
REFERENCE   7  (bases 1 to 4733)
  AUTHORS   He,Ml., Wen,L., Campbell,C.E., Wu,J.Y. and Rao,Y.
  TITLE     Transcription repression by Xenopus ET and its human ortholog TBX3,
            a gene involved in ulnar-mammary syndrome
  JOURNAL   Proc Natl Acad Sci U S A 96 (18), 10212-10217 (1999)
   PUBMED   10468588
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1999 Nov 9;96(23):13589]
REFERENCE   8  (bases 1 to 4733)
  AUTHORS   Bamshad,M., Le,T., Watkins,W.S., Dixon,M.E., Kramer,B.E.,
            Roeder,A.D., Carey,J.C., Root,S., Schinzel,A., Van Maldergem,L.,
            Gardner,R.J., Lin,R.C., Seidman,C.E., Seidman,J.G., Wallerstein,R.,
            Moran,E., Sutphen,R., Campbell,C.E. and Jorde,L.B.
  TITLE     The spectrum of mutations in TBX3: Genotype/Phenotype relationship
            in ulnar-mammary syndrome
  JOURNAL   Am J Hum Genet 64 (6), 1550-1562 (1999)
   PUBMED   10330342
REFERENCE   9  (bases 1 to 4733)
  AUTHORS   Bamshad,M., Lin,R.C., Law,D.J., Watkins,W.C., Krakowiak,P.A.,
            Moore,M.E., Franceschini,P., Lala,R., Holmes,L.B., Gebuhr,T.C.,
            Bruneau,B.G., Schinzel,A., Seidman,J.G., Seidman,C.E. and
            Jorde,L.B.
  TITLE     Mutations in human TBX3 alter limb, apocrine and genital
            development in ulnar-mammary syndrome
  JOURNAL   Nat Genet 16 (3), 311-315 (1997)
   PUBMED   9207801
  REMARK    Erratum:[Nat Genet 1998 May;19(1):102]
REFERENCE   10 (bases 1 to 4733)
  AUTHORS   Li,Q.Y., Newbury-Ecob,R.A., Terrett,J.A., Wilson,D.I., Curtis,A.R.,
            Yi,C.H., Gebuhr,T., Bullen,P.J., Robson,S.C., Strachan,T.,
            Bonnet,D., Lyonnet,S., Young,I.D., Raeburn,J.A., Buckler,A.J.,
            Law,D.J. and Brook,J.D.
  TITLE     Holt-Oram syndrome is caused by mutations in TBX5, a member of the
            Brachyury (T) gene family
  JOURNAL   Nat Genet 15 (1), 21-29 (1997)
   PUBMED   8988164
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026765.22, AK054604.1,
            BC025258.1 and AF140240.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005996.3.
            
            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. This protein is a transcriptional
            repressor and is thought to play a role in the anterior/posterior
            axis of the tetrapod forelimb. Mutations in this gene cause
            ulnar-mammary syndrome, affecting limb, apocrine gland, tooth,
            hair, and genital development. Alternative splicing of this gene
            results in three transcript variants encoding different isoforms;
            however, the full length nature of one variant has not been
            determined. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the shorter isoform
            (1) of this protein.
            
            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 :: SRR1660807.82626.1, AF170708.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267762 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000349155.7/ ENSP00000257567.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AC026765.22        111633-111643
            12-82               AK054604.1         1-71
            83-380              AK054604.1         74-371
            381-1632            AK054604.1         373-1624
            1633-3569           BC025258.1         1108-3044
            3570-4733           AF140240.1         885-2048
FEATURES             Location/Qualifiers
     source          1..4733
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.21"
     gene            1..4733
                     /gene="TBX3"
                     /gene_synonym="TBX3-ISO; UMS; XHL"
                     /note="T-box transcription factor 3"
                     /db_xref="GeneID:6926"
                     /db_xref="HGNC:HGNC:11602"
                     /db_xref="MIM:601621"
     exon            1..1364
                     /gene="TBX3"
                     /gene_synonym="TBX3-ISO; UMS; XHL"
                     /inference="alignment:Splign:2.1.0"
     CDS             976..3147
                     /gene="TBX3"
                     /gene_synonym="TBX3-ISO; UMS; XHL"
                     /note="isoform 1 is encoded by transcript variant 1;
                     bladder cancer related protein XHL; T-box transcription
                     factor TBX3; T-box protein 3; T-box 3"
                     /codon_start=1
                     /product="T-box transcription factor TBX3 isoform 1"
                     /protein_id="NP_005987.3"
                     /db_xref="CCDS:CCDS9175.1"
                     /db_xref="GeneID:6926"
                     /db_xref="HGNC:HGNC:11602"
                     /db_xref="MIM:601621"
                     /translation="MSLSMRDPVIPGTSMAYHPFLPHRAPDFAMSAVLGHQPPFFPAL
                     TLPPNGAAALSLPGALAKPIMDQLVGAAETGIPFSSLGPQAHLRPLKTMEPEEEVEDD
                     PKVHLEAKELWDQFHKRGTEMVITKSGRRMFPPFKVRCSGLDKKAKYILLMDIIAADD
                     CRYKFHNSRWMVAGKADPEMPKRMYIHPDSPATGEQWMSKVVTFHKLKLTNNISDKHG
                     FTILNSMHKYQPRFHIVRANDILKLPYSTFRTYLFPETEFIAVTAYQNDKITQLKIDN
                     NPFAKGFRDTGNGRREKRKQLTLQSMRVFDERHKKENGTSDESSSEQAAFNCFAQASS
                     PAASTVGTSNLKDLCPSEGESDAEAESKEEHGPEACDAAKISTTTSEEPCRDKGSPAV
                     KAHLFAAERPRDSGRLDKASPDSRHSPATISSSTRGLGAEERRSPVREGTAPAKVEEA
                     RALPGKEAFAPLTVQTDAAAAHLAQGPLPGLGFAPGLAGQQFFNGHPLFLHPSQFAMG
                     GAFSSMAAAGMGPLLATVSGASTGVSGLDSTAMASAAAAQGLSGASAATLPFHLQQHV
                     LASQGLAMSPFGSLFPYPYTYMAAAAAASSAAASSSVHRHPFLNLNTMRPRLRYSPYS
                     IPVPVPDGSSLLTTALPSMAAAAGPLDGKVAALAASPASVAVDSGSELNSRSSTLSSS
                     SMSLSPKLCAEKEAATSELQSIQRLVSGLEAKPDRSRSASP"
     exon            1365..1632
                     /gene="TBX3"
                     /gene_synonym="TBX3-ISO; UMS; XHL"
                     /inference="alignment:Splign:2.1.0"
     exon            1633..1779
                     /gene="TBX3"
                     /gene_synonym="TBX3-ISO; UMS; XHL"
                     /inference="alignment:Splign:2.1.0"
     exon            1780..1856
                     /gene="TBX3"
                     /gene_synonym="TBX3-ISO; UMS; XHL"
                     /inference="alignment:Splign:2.1.0"
     exon            1857..2014
                     /gene="TBX3"
                     /gene_synonym="TBX3-ISO; UMS; XHL"
                     /inference="alignment:Splign:2.1.0"
     exon            2015..2685
                     /gene="TBX3"
                     /gene_synonym="TBX3-ISO; UMS; XHL"
                     /inference="alignment:Splign:2.1.0"
     exon            2686..4733
                     /gene="TBX3"
                     /gene_synonym="TBX3-ISO; UMS; XHL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3214..3219
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBX3"
                     /gene_synonym="TBX3-ISO; UMS; XHL"
                     /note="hexamer: AATAAA"
     polyA_site      3233
                     /gene="TBX3"
                     /gene_synonym="TBX3-ISO; UMS; XHL"
                     /note="major polyA site"
     regulatory      4712..4717
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBX3"
                     /gene_synonym="TBX3-ISO; UMS; XHL"
                     /note="hexamer: AATAAA"
     polyA_site      4733
                     /gene="TBX3"
                     /gene_synonym="TBX3-ISO; UMS; XHL"
                     /note="major polyA site"
ORIGIN      
        1 agacgcccgg tgaattctag aggcggcgga gggtggcgag gagctctcgc tttctctcgc
       61 tccctccctc tccgactccg tctctctctc tctctctctc tctcccctcc ctctctttcc
      121 ctctgttcca ttttttcccc ctctaaatcc tccctgccct gcgcgcctgg acacagattt
      181 aggaagcgaa ttcgctcacg ttttaggaca aggaagagag agaggcacgg gagaagagcc
      241 cagcaagatt tggattgaaa ccgagacacc ctccggaggc tcggagcaga ggaaggagga
      301 ggagggcggc gaacggaagc cagtttgcaa ttcaagtttt gatagcgctg gtagaagggg
      361 gtttaaatca gatttttttt tttttaaagg agagagactt tttccgctct ctcgctccct
      421 gttaaagccg ggtctagcac agctgcagac gccaccagcg agaaagaggg agaggaagac
      481 agataggggg cgggggaaga agaaaaagaa aggtaaaaag tcttctagga gaacctttca
      541 catttgcaac aaaagaccta ggggctggag agagattcct gggacgcagg gctggagtgt
      601 ctatttcgag ctcagcggca gggctcgggc gcgagtcgag accctgctcg ctcctctcgc
      661 ttctgaaacc gacgttcagg agcggctttt taaaaacgca aggcacaagg acggtcaccc
      721 gcgcgactat gtttgctgat ttttcgcctt gccctcttta aaagcggcct cccattctcc
      781 aaaagacact tcccctcctc cctttgaagt gcattagttg tgatttctgc ctccttttct
      841 tttttctttc ttttttgttt tgctttttcc ccccttttga attatgtgct gctgttaaac
      901 aacaacaaaa aaacaacaaa acacagcagc tgcggacttg tccccggctg gagcccagcg
      961 ccccgcctgg agtggatgag cctctccatg agagatccgg tcattcctgg gacaagcatg
     1021 gcctaccatc cgttcctacc tcaccgggcg ccggacttcg ccatgagcgc ggtgctgggt
     1081 caccagccgc cgttcttccc cgcgctgacg ctgcctccca acggcgcggc ggcgctctcg
     1141 ctgccgggcg ccctggccaa gccgatcatg gatcaattgg tgggggcggc cgagaccggc
     1201 atcccgttct cctccctggg gccccaggcg catctgaggc ctttgaagac catggagccc
     1261 gaagaagagg tggaggacga ccccaaggtg cacctggagg ctaaagaact ttgggatcag
     1321 tttcacaagc ggggcaccga gatggtcatt accaagtcgg gaaggcgaat gtttcctcca
     1381 tttaaagtga gatgttctgg gctggataaa aaagccaaat acattttatt gatggacatt
     1441 atagctgctg atgactgtcg ttataaattt cacaattctc ggtggatggt ggctggtaag
     1501 gccgaccccg aaatgccaaa gaggatgtac attcacccgg acagccccgc tactggggaa
     1561 cagtggatgt ccaaagtcgt cactttccac aaactgaaac tcaccaacaa catttcagac
     1621 aaacatggat ttactatatt gaactccatg cacaaatacc agccccggtt ccacattgta
     1681 agagccaatg acatcttgaa actcccttat agtacatttc ggacatactt gttccccgaa
     1741 actgaattca tcgctgtgac tgcataccag aatgataaga taacccagtt aaaaatagac
     1801 aacaaccctt ttgcaaaagg tttccgggac actggaaatg gccgaagaga aaaaagaaaa
     1861 cagctcaccc tgcagtccat gagggtgttt gatgaaagac acaaaaagga gaatgggacc
     1921 tctgatgagt cctccagtga acaagcagct ttcaactgct tcgcccaggc ttcttctcca
     1981 gccgcctcca ctgtagggac atcgaacctc aaagatttat gtcccagcga gggtgagagc
     2041 gacgccgagg ccgagagcaa agaggagcat ggccccgagg cctgcgacgc ggccaagatc
     2101 tccaccacca cgtcggagga gccctgccgt gacaagggca gccccgcggt caaggctcac
     2161 cttttcgctg ctgagcggcc ccgggacagc gggcggctgg acaaagcgtc gcccgactca
     2221 cgccatagcc ccgccaccat ctcgtccagc actcgcggcc tgggcgcgga ggagcgcagg
     2281 agcccggttc gcgagggcac agcgccggcc aaggtggaag aggcgcgcgc gctcccgggc
     2341 aaggaggcct tcgcgccgct cacggtgcag acggacgcgg ccgccgcgca cctggcccag
     2401 ggccccctgc ctggcctcgg cttcgccccg ggcctggcgg gccaacagtt cttcaacggg
     2461 cacccgctct tcctgcaccc cagccagttt gccatggggg gcgccttctc cagcatggcg
     2521 gccgctggca tgggtcccct cctggccacg gtttctgggg cctccaccgg tgtctcgggc
     2581 ctggattcca cggccatggc ctctgccgct gcggcgcagg gactgtccgg ggcgtccgcg
     2641 gccaccctgc ccttccacct ccagcagcac gtcctggcct ctcagggcct ggccatgtcc
     2701 cctttcggaa gcctgttccc ttacccctac acgtacatgg ccgcagcggc ggccgcctcc
     2761 tctgcggcag cctccagctc ggtgcaccgc caccccttcc tcaatctgaa caccatgcgc
     2821 ccgcggctgc gctacagccc ctactccatc ccggtgccgg tcccggacgg cagcagtctg
     2881 ctcaccaccg ccctgccctc catggcggcg gccgcggggc ccctggacgg caaagtcgcc
     2941 gccctggccg ccagcccggc ctcggtggca gtggactcgg gctctgaact caacagccgc
     3001 tcctccacgc tctcctccag ctccatgtcc ttgtcgccca aactctgcgc ggagaaagag
     3061 gcggccacca gcgaactgca gagcatccag cggttggtta gcggcttgga agccaagccg
     3121 gacaggtccc gcagcgcgtc cccgtagacc cgtcccagac acgtcttttc attccagtcc
     3181 agttcaggct gccgtgcact ttgtcggata taaaataaac cacgggcccg ccatggcgtt
     3241 agcccttcct tttgcagttg cgtctgggaa ggggccccgg actccctcga gagaatgtgc
     3301 tagagacagc ccctgtcttc ttggcgtggt ttatatgtcc gggatctgga tcagattctg
     3361 ggggctcaga aacgtcggtt gcattgagct actgggggta ggagttccaa catttatgtc
     3421 cagagcaact tccagcaagg ctggtctggg tctctgccca ccaggcgggg aggtgttcaa
     3481 agacatctcc ctcagtgcgg atttatatat atatttttcc ttcactgtgt caagtggaaa
     3541 caaaaacaaa atctttcaaa aaaaaaatcg ggacaagtga acacattaac atgattctgt
     3601 ttgtgcagat taaaaacttt atagggactt gcattatcgg ttctcaataa attactgagc
     3661 agctttgttt ggggagggaa gtccctacca tccttgttta gtctatatta agaaaatctg
     3721 tgtcttttta atattcttgt gatgttttca gagccgctgt aggtctcttc ttgcatgtcc
     3781 acagtaatgt atttgtggtt tttattttga acgcttgctt ttagagagaa aacaatatag
     3841 ccccctaccc ttttcccaat cctttgccct caaatcagtg acccaaggga gggggggatt
     3901 taaagggaag gagtgggcaa aacacataaa atgaatttat tatatctaag ctctgtagca
     3961 ggattcatgt cgttctttga cagttctttc tctttcctgt atatgcaata acaaggtttt
     4021 aaaaaaataa taaagaagtg agactattag acaaagtatt tatgtaatta tttgataact
     4081 cttgtaaata ggtggaatat gaatgcttgg aaaattaaac tttaatttat tgacattgta
     4141 catagctctg tgtaaataga attgcaactg tcaggttttg tgttcttgtt ttcctttagt
     4201 tgggtttatt tccaggtcac agaattgctg ttaacactag aaaacacact tcctgcacca
     4261 acaccaatac cctttcaaaa gagttgtctg caacattttt gttttctttt ttaatgtcca
     4321 aaagtggggg aaagtgctat ttcctatttt caccaaaatt ggggaaggag tgccactttc
     4381 cagctccact tcaaattcct taaaatataa ctgagattgc tgtggggagg gaggagggca
     4441 gaggctgcgg tttgactttt taatttttct tttgttattt gtatttgcta gtctctgatt
     4501 tcctcaaaac gaagtggaat ttactactgt tgtcagtatc ggtgttttga attggtgcct
     4561 gcctatagag atatattcac agttcaaaag tcaggtgctg agagatggtt taaagacaaa
     4621 ttcatgaagg tatattttgt gttatagttg ttgatgagtt ctttggtttt ctgtattttt
     4681 ccccctctct ttaaaacatc actgaaattt caataaattt ttattgaaat gtc
//
