LOCUS       NM_001379200            2048 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens T-box transcription factor 1 (TBX1), transcript
            variant D, mRNA.
ACCESSION   NM_001379200
VERSION     NM_001379200.1
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 2048)
  AUTHORS   Almakhari,M., Chen,Y., Kong,A.S., Moradigaravand,D., Lai,K.S.,
            Lim,S.E., Loh,J.Y. and Maran,S.
  TITLE     In-silico identification of deleterious non-synonymous SNPs of TBX1
            gene: Functional and structural impact towards 22q11.2DS
  JOURNAL   PLoS One 19 (6), e0298092 (2024)
   PUBMED   38905172
  REMARK    GeneRIF: In-silico identification of deleterious non-synonymous
            SNPs of TBX1 gene: Functional and structural impact towards
            22q11.2DS.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2048)
  AUTHORS   Funato,N., Heliovaara,A. and Boeckx,C.
  TITLE     A regulatory variant impacting TBX1 expression contributes to
            basicranial morphology in Homo sapiens
  JOURNAL   Am J Hum Genet 111 (5), 939-953 (2024)
   PUBMED   38608674
  REMARK    GeneRIF: A regulatory variant impacting TBX1 expression contributes
            to basicranial morphology in Homo sapiens.
REFERENCE   3  (bases 1 to 2048)
  AUTHORS   Nagel,S., Haake,J., Pommerenke,C., Meyer,C. and MacLeod,R.A.F.
  TITLE     Establishment of the Myeloid TBX-Code Reveals Aberrant Expression
            of T-Box Gene TBX1 in Chronic Myeloid Leukemia
  JOURNAL   Int J Mol Sci 25 (1), 32 (2023)
   PUBMED   38203204
  REMARK    GeneRIF: Establishment of the Myeloid TBX-Code Reveals Aberrant
            Expression of T-Box Gene TBX1 in Chronic Myeloid Leukemia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2048)
  AUTHORS   Kemmler,C.L., Smolikova,J., Moran,H.R., Mannion,B.J., Knapp,D.,
            Lim,F., Czarkwiani,A., Hermosilla Aguayo,V., Rapp,V., Fitch,O.E.,
            Botschi,S., Selleri,L., Farley,E., Braasch,I., Yun,M., Visel,A.,
            Osterwalder,M., Mosimann,C., Kozmik,Z. and Burger,A.
  TITLE     Conserved enhancers control notochord expression of vertebrate
            Brachyury
  JOURNAL   Nat Commun 14 (1), 6594 (2023)
   PUBMED   37852970
  REMARK    GeneRIF: Conserved enhancers control notochord expression of
            vertebrate Brachyury.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2048)
  AUTHORS   Wu,Y., Xia,Y., Yue,C., Xin,T., Wang,Q., Zhang,H., Shen,C., Shen,M.,
            Gu,Y. and Shen,J.
  TITLE     Brachyury positively regulates extracellular matrix synthesis via
            directly promoting aggrecan transcription in nucleus pulposus
  JOURNAL   FASEB J 37 (6), e22976 (2023)
   PUBMED   37227215
  REMARK    GeneRIF: Brachyury positively regulates extracellular matrix
            synthesis via directly promoting aggrecan transcription in nucleus
            pulposus.
REFERENCE   6  (bases 1 to 2048)
  AUTHORS   Epstein,J.A.
  TITLE     Developing models of DiGeorge syndrome
  JOURNAL   Trends Genet 17 (10), S13-S17 (2001)
   PUBMED   11585671
  REMARK    Review article
REFERENCE   7  (bases 1 to 2048)
  AUTHORS   Sinha,S., Abraham,S., Gronostajski,R.M. and Campbell,C.E.
  TITLE     Differential DNA binding and transcription modulation by three
            T-box proteins, T, TBX1 and TBX2
  JOURNAL   Gene 258 (1-2), 15-29 (2000)
   PUBMED   11111039
REFERENCE   8  (bases 1 to 2048)
  AUTHORS   Chieffo,C., Garvey,N., Gong,W., Roe,B., Zhang,G., Silver,L.,
            Emanuel,B.S. and Budarf,M.L.
  TITLE     Isolation and characterization of a gene from the DiGeorge
            chromosomal region homologous to the mouse Tbx1 gene
  JOURNAL   Genomics 43 (3), 267-277 (1997)
   PUBMED   9268629
REFERENCE   9  (bases 1 to 2048)
  AUTHORS   McDonald-McGinn,D.M., Hain,H.S., Emanuel,B.S. and Zackai,E.H.
  TITLE     22q11.2 Deletion Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301696
REFERENCE   10 (bases 1 to 2048)
  AUTHORS   Driscoll,D.A., Spinner,N.B., Budarf,M.L., McDonald-McGinn,D.M.,
            Zackai,E.H., Goldberg,R.B., Shprintzen,R.J., Saal,H.M., Zonana,J.,
            Jones,M.C. et al.
  TITLE     Deletions and microdeletions of 22q11.2 in velo-cardio-facial
            syndrome
  JOURNAL   Am J Med Genet 44 (2), 261-268 (1992)
   PUBMED   1360769
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC000091.1.
            
            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 gene product shares 98% amino acid
            sequence identity with the mouse ortholog. DiGeorge syndrome
            (DGS)/velocardiofacial syndrome (VCFS), a common congenital
            disorder characterized by neural-crest-related developmental
            defects, has been associated with deletions of chromosome 22q11.2,
            where this gene has been mapped. Studies using mouse models of
            DiGeorge syndrome suggest a major role for this gene in the
            molecular etiology of DGS/VCFS. Several alternatively spliced
            transcript variants encoding different isoforms have been described
            for this gene. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR14038195.1578375.1,
                                           ERR279836.4659.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000649276.2/ ENSP00000497003.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-503               AC000091.1         21356-21858
            504-605             AC000091.1         23819-23920
            606-777             AC000091.1         24733-24904
            778-933             AC000091.1         25536-25691
            934-1001            AC000091.1         26336-26403
            1002-1102           AC000091.1         26480-26580
            1103-2048           AC000091.1         26967-27912
FEATURES             Location/Qualifiers
     source          1..2048
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..2048
                     /gene="TBX1"
                     /gene_synonym="CAFS; CATCH22; CTHM; DGCR; DGS; DORV;
                     TBX1C; TGA; VCF; VCFS"
                     /note="T-box transcription factor 1"
                     /db_xref="GeneID:6899"
                     /db_xref="HGNC:HGNC:11592"
                     /db_xref="MIM:602054"
     exon            1..503
                     /gene="TBX1"
                     /gene_synonym="CAFS; CATCH22; CTHM; DGCR; DGS; DORV;
                     TBX1C; TGA; VCF; VCFS"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..1581
                     /gene="TBX1"
                     /gene_synonym="CAFS; CATCH22; CTHM; DGCR; DGS; DORV;
                     TBX1C; TGA; VCF; VCFS"
                     /note="isoform D is encoded by transcript variant D;
                     brachyury; T-box 1 transcription factor C; Testis-specific
                     T-box protein"
                     /codon_start=1
                     /product="T-box transcription factor TBX1 isoform D"
                     /protein_id="NP_001366129.1"
                     /db_xref="CCDS:CCDS93119.1"
                     /db_xref="GeneID:6899"
                     /db_xref="HGNC:HGNC:11592"
                     /db_xref="MIM:602054"
                     /translation="MISAVSSPWLTQLSHFCDVAAFTASSLSSLGAAGGFPGAASPGA
                     DPYGPREPPPPPPRYDPCAAAAPGAPGPPPPPHAYPFAPAAGAATSAAAEPEGPGASC
                     AAAAKAPVKKNAKVAGVSVQLEMKALWDEFNQLGTEMIVTKAGRRMFPTFQVKLFGMD
                     PMADYMLLMDFVPVDDKRYRYAFHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQ
                     IVSFDKLKLTNNLLDDNGHIILNSMHRYQPRFHVVYVDPRKDSEKYAEENFKTFVFEE
                     TRFTAVTAYQNHRITQLKIASNPFAKGFRDCDPEDWPRNHRPGALPLMSAFARSRNPV
                     ASPTQPSGTEKDAAEARREFQRDAGGPAVLGDPAHPPQLLARVLSPSLPGAGGAGGLV
                     PLPGAPGGRPSPPNPELRLEAPGASEPLHHHPYKYPAAAYDHYLGAKSRPAPYPLPGL
                     RGHGYHPHAHPHHHHHPVSPAAAAAAAAAAAAAAANMYSSAGAAPPGSYDYCPR"
     exon            504..605
                     /gene="TBX1"
                     /gene_synonym="CAFS; CATCH22; CTHM; DGCR; DGS; DORV;
                     TBX1C; TGA; VCF; VCFS"
                     /inference="alignment:Splign:2.1.0"
     exon            606..777
                     /gene="TBX1"
                     /gene_synonym="CAFS; CATCH22; CTHM; DGCR; DGS; DORV;
                     TBX1C; TGA; VCF; VCFS"
                     /inference="alignment:Splign:2.1.0"
     exon            778..933
                     /gene="TBX1"
                     /gene_synonym="CAFS; CATCH22; CTHM; DGCR; DGS; DORV;
                     TBX1C; TGA; VCF; VCFS"
                     /inference="alignment:Splign:2.1.0"
     exon            934..1001
                     /gene="TBX1"
                     /gene_synonym="CAFS; CATCH22; CTHM; DGCR; DGS; DORV;
                     TBX1C; TGA; VCF; VCFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1002..1102
                     /gene="TBX1"
                     /gene_synonym="CAFS; CATCH22; CTHM; DGCR; DGS; DORV;
                     TBX1C; TGA; VCF; VCFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..2048
                     /gene="TBX1"
                     /gene_synonym="CAFS; CATCH22; CTHM; DGCR; DGS; DORV;
                     TBX1C; TGA; VCF; VCFS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2023..2028
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBX1"
                     /gene_synonym="CAFS; CATCH22; CTHM; DGCR; DGS; DORV;
                     TBX1C; TGA; VCF; VCFS"
                     /note="hexamer: GATAAA"
     polyA_site      2048
                     /gene="TBX1"
                     /gene_synonym="CAFS; CATCH22; CTHM; DGCR; DGS; DORV;
                     TBX1C; TGA; VCF; VCFS"
                     /note="major polyA site"
ORIGIN      
        1 actcggcccg cggcgcgggg cagcgctcag cttggtggcg ggggcggcgg cggcggcccg
       61 cgggtcatga tctccgccgt gtccagcccg tggctcacgc agctctcgca tttctgcgac
      121 gttgcagcct tcacggccag cagcctgagc agcctggggg ccgcgggggg cttcccgggc
      181 gccgcgtcgc ccggcgccga cccgtacggc ccgcgcgagc ccccgccgcc gccgccgcgc
      241 tacgacccgt gcgccgccgc cgcccccggc gccccgggcc cgccgccgcc gccgcacgcc
      301 tacccgtttg cgccggccgc cggggccgcc accagcgccg ccgccgagcc cgagggcccc
      361 ggggccagct gcgcggccgc agccaaggcg ccggtgaaga agaacgcgaa ggtggccggt
      421 gtgagcgtgc agctagagat gaaggcgctg tgggacgagt tcaaccagct gggcaccgag
      481 atgatcgtca ccaaggccgg caggcggatg tttcccacct tccaagtgaa gctcttcggc
      541 atggatccca tggccgacta tatgctgctc atggacttcg tgccggtgga cgataagcgc
      601 taccggtacg ccttccacag ctcctcctgg ctggtggcgg ggaaggccga ccctgccacg
      661 ccaggccgcg tgcactacca cccggactcg cctgccaagg gcgcgcagtg gatgaagcaa
      721 atcgtgtcct tcgacaagct caagctgacc aacaacctac tggacgacaa cggccacatt
      781 attctgaatt ccatgcacag ataccagccc cgcttccacg tggtctatgt ggacccacgc
      841 aaagatagcg agaaatatgc cgaggagaac ttcaaaacct ttgtgttcga ggagacacga
      901 ttcaccgcgg tcactgccta ccagaaccat cggatcacgc agctcaagat tgccagcaat
      961 cccttcgcga aaggcttccg ggactgtgac cctgaggact ggccccggaa ccaccggccc
     1021 ggcgcactgc cgctcatgag cgccttcgcg cgctcgcgga accccgtggc ttccccgacg
     1081 cagcccagcg gcacggagaa agacgcggct gaggcccggc gagaattcca gcgcgacgcg
     1141 ggcgggccag cagtgctcgg ggacccggcg catcctccgc agctgctggc ccgggtgcta
     1201 agcccctcgc tgcccggggc cggcggcgcc ggcggcttag tcccgctgcc cggcgcgccc
     1261 ggaggccggc ccagtccccc gaaccccgag ctgcgcctgg aggcgcccgg cgcatcggag
     1321 ccgctgcacc accaccccta caaatatccg gccgccgcct acgaccacta tctcggggcc
     1381 aagagccggc cggcgcccta cccgctgccc ggcctgcgtg gccacggcta ccacccgcac
     1441 gcgcatccgc accaccacca ccaccccgtg agtccagccg ccgcggccgc cgccgccgct
     1501 gccgcagctg ccgcggccgc caacatgtac tcgtcggccg gagccgcgcc gcccggctcc
     1561 tacgactatt gccccagata acacgggccc tgtcgcgctc ccgccccggt cctgcacagc
     1621 cccgaagttc gccgggcccg gccaccctgc cccaagggca agcaaggaat acgttccccc
     1681 agccccaggg gccaccgcgg ctctcccctt ccccagcctc gaagccatgg gggccccctc
     1741 gccaccccca gccccttggg ctatcgaagt atccggttcc ccagtccctg gagccaccgc
     1801 gggtccttcc ccggccccga gggccaaggg ggtccccgcc cgccagtgcc aaagcgcccg
     1861 gtcggaggcg gaaggaagtg atatttattg ttctccccga gaccgcgtcg cccgcggccc
     1921 ggccggcagt tgcagtgtag acagcccgag agccccgcct gcaggcggtg tagatacatg
     1981 tagatactgt agatactgta gataccgccc cggcgccgac ttgataaacg gtttcgcctc
     2041 ttttggaa
//
