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Symbol TBX1 contributors: mct/npt - updated : 29-03-2017
HGNC name T-box 1
HGNC id 11592
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 splicing 1480 43.1 398 fetal lung 1997 9268629
exon 1-9a
9 splicing 1538 40.2 372 skeletal muscle, testis, fetal lung 1997 9268629
exon 1-9b, 10
9 - 2082 53.4 495 - 1997 9268629
Type restricted
   expressed in (based on citations)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain     Mus musculus
 braindiencephalonamygdala   Mus musculus
 brainforebraincerebral cortexfrontal cortex  Mus musculus
 brainlimbic systemhippocampus   Mus musculus
cell lineage
cell lines
physiological period embryo, fetal
Text lateral plate mesoderm and pharyngeal endoderm, the branchial arches, the otic vesicles, the optic cup, embryonic fetal vertebral column and tooth bud
  • a large N terminal DNA binding domain (T-box)
  • a C-terminal transactivation/repression domain
  • a nuclear localization signal
    interspecies homolog to murine T-box gene Tbx1 (T,brachyury)
  • T box family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • required for formation and early remodeling of the arch arteries, for neural crest cell distribution and patterning and for inner ear morphogenesis
  • RNA polymerase 2, DNA binding transcription factor
  • may be regulating expression of FGF8 to ensure correct differentiation of neural crest in the pharyngeal area
  • regulating the onset of branchiomeric myogenesis and pharyngeal tonus
  • regulates intermediate steps of thyroid development by a non-cell-autonomous mechanism
  • expressed in both first and second branchial arch and also maintains the number of myocytes in the head and limb
  • acts upstream in a genetic network that positively regulates second heart field cell proliferation and negatively regulates differentiation, cell-autonomously in the caudal pharyngeal region
  • having functions in the inner ear that are to control, cell-autonomously, contribution, size and fate of a large population of otic epithelial cells, and, cell non-autonomously, cochlear morphogenesis
  • is a critical transcription factor that guides palatal elongation and elevation and FGF8 expression in the palate is TBX1-dependent
  • may have potentially a novel dual role as a negative regulator of tumor growth
  • role in suppressing cardiac progenitor cell differentiation and having also a negative effect on MEF2C during skeletal muscle differentiation
  • potentially regulates the balance between proliferation and differentiation of keratinocytes and is essential for palatal fusion and oral mucosal differentiation
  • TBX1 acts upstream of SMAD7 controlling vascular smooth muscle and extracellular matrix investment of the fourth arch artery
  • regulates brain angiogenesis
  • TBX1 coordinates the WNT-dependent epithelial destabilization of pouch-forming cells with their collective migration towards FGF8A-expressing mesodermal guideposts
  • regulates epithelial polarity and dynamic basal filopodia in the second heart field
  • has critical roles in maintaining proliferation and inhibiting differentiation of cardiac progenitor cells of the second heart field
  • TBX2, TBX3, TBX4, TBX5 and three members of TBX1 (TBX1, TBX15, TBX18), Brachyury (T) and Eomes (TBR2) are expressed in the developing limb
  • TBX18 and other members of the T-box gene family, namely, TBX1, TBX2, TBX3, and TBX20, play additional roles in development and homeostasis of other components of the excretory system
  • CELLULAR PROCESS nucleotide, transcription
    text organogenesis
    a component
    DNA binding through T-box
    small molecule
  • VEGF and FGF8
  • with PITX2 (molecular partners in different developmental fields including cranial, limb and heart) muscle lineages
  • interacting with CHRD (modifier for the craniofacial anomalies of TBX1 mutations, demonstrating the existence of a second-site modifier for a specific subset of the phenotypes associated with 22q11 Deletion syndrome) (Choi 2009)
  • genetic interaction between TBX1 and POU3F4 relevant to human disease, indicating a function of these genes in signaling from the periotic mesenchyme to the otic vesicle to direct proper coiling of the cochlear duct
  • physical interaction between TBX1 and ASH2L suggesting that at least some functions of TBX1 may be mediated by direct interactions with a histone methyltransferase complex
  • interacting with DSCR6
  • in the presence of RIPPLY3, TBX1 acts as a transcriptional repressor, and functions to restrict the positional expression of FGF8, a key regulator of pre-placodal ectoderm gene expression
  • interaction with MEF2C
  • interacts with, and probably recruits a specific subunit of, the BAF complex (SMARCD1) as well as histone methylases to activate or enhance transcription, enhancing SMARCD1 occupation at the WNT5A gene and its H3K4 monomethylation status
  • MYST3 regulates the TBX1 locus, and MYST3 mutation partially phenocopies DiGeorge syndrome in mouse
  • TBX1 down regulates the expression of KDR, during embryonic development
  • cell & other
    corresponding disease(s) DEL22Q11 , CTHMT
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    haploinsufficiency associated to psychiatric disorder in DEL22Q11
    constitutional       loss of function
    in thyroid dysgenesis
    constitutional       loss of function
    underlies specific prodromal and symptomatic elements of schizophrenia, as well as autism spectrum disorder
    constitutional   deletion    
    from the pharyngeal endoderm is sufficient to cause caudal pharyngeal arch segmentation defects by FGF-independent effectors
    Variant & Polymorphism
    Candidate gene for congenital heart defects such as TOF,PTA and IAA in del 22q11
    Therapy target
  • null mutant mice have conotruncal defect and a phenotype reminiscent of the Di George syndrome. required for normal heart development of the pharyngeal arch arteries in a gene dosage-dependent manner, in mice
  • diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome (Meechan 2009)
  • impaired adhesion separation of the oral epithelium together with compromised palatal mesenchymal growth is an underlying cause for various forms of cleft palate phenotypes in Tbx1(-/-) mice
  • DiGeorge syndrome-like anomalies are present in mice with homozygous mutation of Moz and in heterozygous Moz mutants when combined with Tbx1 haploinsufficiency or oversupply of retinoic acid
  • constitutive Tbx1-deficient mice show hearing impairments and velopharyngeal dysfunction, and selectively showed lower levels of vocal sounds in complex vocal patterns only