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    TBX1 T-box transcription factor 1 [ Homo sapiens (human) ]

    Gene ID: 6899, updated on 11-Jun-2021

    Summary

    Official Symbol
    TBX1provided by HGNC
    Official Full Name
    T-box transcription factor 1provided by HGNC
    Primary source
    HGNC:HGNC:11592
    See related
    Ensembl:ENSG00000184058 MIM:602054
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DGS; TGA; VCF; CAFS; CTHM; DGCR; DORV; VCFS; TBX1C; CATCH22
    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]
    Expression
    Biased expression in testis (RPKM 1.4), prostate (RPKM 1.1) and 13 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TBX1 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (19756703..19783593)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19744226..19771116)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene SEPT5-GP1BB readthrough Neighboring gene uncharacterized LOC105372861 Neighboring gene glycoprotein Ib platelet subunit beta Neighboring gene VISTA enhancer hs515 Neighboring gene G protein subunit beta 1 like Neighboring gene ribosomal protein L7a pseudogene 70 Neighboring gene retrotransposon Gag like 10

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
    GeneReviews: Not available
    Conotruncal heart malformations
    MedGen: C1857586 OMIM: 217095 GeneReviews: Not available
    Compare labs
    DiGeorge Syndrome
    MedGen: C0012236 OMIM: 188400 GeneReviews: 22q11.2 Deletion Syndrome
    Compare labs
    GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
    GeneReviews: Not available
    Shprintzen syndrome
    MedGen: C0220704 OMIM: 192430 GeneReviews: 22q11.2 Deletion Syndrome
    Compare labs
    Tetralogy of Fallot
    MedGen: C0039685 OMIM: 187500 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2012-03-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated 2012-03-22)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in anterior/posterior pattern specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in aorta morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in blood vessel development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in blood vessel morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell fate specification IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cell fate specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to fibroblast growth factor stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to retinoic acid ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cochlea morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in coronary artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in determination of left/right symmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ear morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic cranial skeleton morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic viscerocranium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in enamel mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in face morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inner ear morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lymph vessel development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mesenchymal cell apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mesoderm development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in middle ear morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in muscle cell fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in muscle organ development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in muscle organ morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of mesenchymal cell apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neural crest cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in odontogenesis of dentin-containing tooth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in outer ear morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in outflow tract septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in parathyroid gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pattern specification process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pharyngeal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of MAPK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of epithelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of mesenchymal cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of tongue muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of animal organ morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in retinoic acid receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in semicircular canal morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in social behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in soft palate development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in thymus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in thyroid gland development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in tongue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vagus nerve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    T-box transcription factor TBX1
    Names
    T-box 1 transcription factor C
    Testis-specific T-box protein
    brachyury

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009229.1 RefSeqGene

      Range
      5001..31891
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_226

    mRNA and Protein(s)

    1. NM_001379200.1NP_001366129.1  T-box transcription factor TBX1 isoform D

      Status: REVIEWED

      Source sequence(s)
      AC000091
      Related
      ENSP00000497003.1, ENST00000649276.2
      Conserved Domains (1) summary
      cd20187
      Location:118306
      T-box_TBX1_10-like; DNA-binding domain of T-box transcription factor 1 and 10, and related T-box proteifactors
    2. NM_005992.1NP_005983.1  T-box transcription factor TBX1 isoform B

      See identical proteins and their annotated locations for NP_005983.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) contains an alternate exon 9 and an additional exon 10 compared to variant C. It encodes an isoform (B) with the same N-terminal 336 aa, but an unique C-terminus with respect to isoforms A and C.
      Source sequence(s)
      AF012131
      Consensus CDS
      CCDS13765.1
      UniProtKB/Swiss-Prot
      O43435
      UniProtKB/TrEMBL
      Q152R5
      Related
      ENSP00000352483.3, ENST00000359500.7
      Conserved Domains (1) summary
      pfam00907
      Location:112297
      T-box; T-box
    3. NM_080646.2NP_542377.1  T-box transcription factor TBX1 isoform A

      See identical proteins and their annotated locations for NP_542377.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) contains an alternate exon 9 compared to variant C, resulting in an isoform (A) with the same N-terminal 336 aa, but an unique C-terminus with respect to isoforms B and C.
      Source sequence(s)
      AF012130
      Consensus CDS
      CCDS13766.1
      UniProtKB/Swiss-Prot
      O43435
      Related
      ENSP00000331176.7, ENST00000329705.11
      Conserved Domains (1) summary
      cd00182
      Location:109299
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
    4. NM_080647.1NP_542378.1  T-box transcription factor TBX1 isoform C

      See identical proteins and their annotated locations for NP_542378.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (C) encodes the longest isoform (C) with the same N-terminal 336 aa, but an unique C-terminus with respect to isoforms A and B.
      Source sequence(s)
      AF373867
      Consensus CDS
      CCDS13767.1
      UniProtKB/Swiss-Prot
      O43435
      UniProtKB/TrEMBL
      D9ZGG0
      Related
      ENSP00000331791.4, ENST00000332710.8
      Conserved Domains (1) summary
      cd00182
      Location:109299
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      19756703..19783593
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724312.2XP_006724375.1  T-box transcription factor TBX1 isoform X2

      See identical proteins and their annotated locations for XP_006724375.1

      UniProtKB/Swiss-Prot
      O43435
      UniProtKB/TrEMBL
      D9ZGG0
      Conserved Domains (1) summary
      cd00182
      Location:109299
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
    2. XM_017028926.1XP_016884415.1  T-box transcription factor TBX1 isoform X2

      UniProtKB/Swiss-Prot
      O43435
      UniProtKB/TrEMBL
      D9ZGG0
      Conserved Domains (1) summary
      cd00182
      Location:109299
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
    3. XM_017028925.1XP_016884414.1  T-box transcription factor TBX1 isoform X1

    4. XM_017028928.1XP_016884417.1  T-box transcription factor TBX1 isoform X4

    5. XM_017028927.1XP_016884416.1  T-box transcription factor TBX1 isoform X3

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