TBX1

T-box 1
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 4A04
Identifiers
Symbols	TBX1 ; CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS
External IDs	OMIM: 602054 HomoloGene: 7966 GeneCards: TBX1 Gene
Gene ontology Molecular function • DNA binding • transcription factor activity, sequence-specific DNA binding • protein homodimerization activity • sequence-specific DNA binding • protein dimerization activity Cellular component • nucleus Biological process • angiogenesis • blood vessel development • cell fate specification • neural crest cell migration • positive regulation of protein phosphorylation • lymph vessel development • blood vessel remodeling • positive regulation of mesenchymal cell proliferation • heart morphogenesis • outflow tract septum morphogenesis • outflow tract morphogenesis • transcription, DNA-templated • regulation of transcription from RNA polymerase II promoter • determination of left/right symmetry • pattern specification process • mesoderm development • heart development • muscle organ development • sensory perception of sound • cell proliferation • positive regulation of cell proliferation • anterior/posterior pattern specification • vagus nerve morphogenesis • epithelial cell differentiation • thyroid gland development • social behavior • aorta morphogenesis • ear morphogenesis • inner ear morphogenesis • outer ear morphogenesis • middle ear morphogenesis • odontogenesis of dentin-containing tooth • muscle cell fate commitment • positive regulation of MAPK cascade • tongue morphogenesis • cellular response to fibroblast growth factor stimulus • negative regulation of cell differentiation • positive regulation of transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter • retinoic acid receptor signaling pathway • blood vessel morphogenesis • thymus development • muscle organ morphogenesis • embryonic cranial skeleton morphogenesis • embryonic viscerocranium morphogenesis • semicircular canal morphogenesis • artery morphogenesis • positive regulation of epithelial cell proliferation • parathyroid gland development • soft palate development • pharyngeal system development • face morphogenesis • muscle tissue morphogenesis • coronary artery morphogenesis • enamel mineralization • cellular response to retinoic acid • otic vesicle morphogenesis • positive regulation of secondary heart field cardioblast proliferation • cochlea morphogenesis • mesenchymal cell apoptotic process • regulation of organ morphogenesis • positive regulation of tongue muscle cell differentiation • negative regulation of mesenchymal cell apoptotic process Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6899	21380
Ensembl	ENSG00000184058	ENSMUSG00000009097
UniProt	O43435	P70323
RefSeq (mRNA)	NM_005992	NM_001285472
RefSeq (protein)	NP_005983	NP_001272401
Location (UCSC)	Chr 22: 19.76 – 19.78 Mb	Chr 16: 18.58 – 18.59 Mb
PubMed search	[1]	[2]

T-box transcription factor TBX1 also known as T-box protein 1 and testis-specific T-box protein is a protein that in humans is encoded by the TBX1 gene. Genes in the T-box family play important roles in the formation of tissues and organs during embryonic development. To carry out these roles, proteins made by this gene family bind to specific areas of DNA. By attaching to critical regions near genes, the proteins help control the activity of those genes. T-box proteins are called transcription factors on the basis of this action.

Gene

The TBX1 gene is located on the long (q) arm of chromosome 22 at position 11.21, from base pair 18,118,779 to base pair 18,145,669.

Function

The T-box 1 protein appears to be necessary for the normal development of large arteries that carry blood out of the heart, muscles and bones of the face and neck, and glands such as the thymus and parathyroid. Although the T-box 1 protein acts as a transcription factor, it is not yet known which genes are regulated by the protein.

Clinical signficance

Most cases of 22q11.2 deletion syndrome are caused by the deletion of a small piece of chromosome 22. This region of the chromosome contains about 30 genes, including the TBX1 gene. In a small number of affected individuals without a chromosome 22 deletion, mutations in the TBX1 gene are thought to be responsible for the characteristic signs and symptoms of the syndrome. Of the three known mutations, two mutations change one amino acid (a building block of proteins) in the T-box 1 protein. The third mutation deletes a single amino acid from the protein. These mutations likely disrupt the ability of the T-box 1 protein to bind to DNA and regulate the activity of other genes.

Loss of the TBX1 gene, due to either a mutation in the gene or a deletion of part of chromosome 22, is responsible for many of the features of 22q11.2 deletion syndrome. Specifically, a loss of the TBX1 gene is associated with heart defects, an opening in the roof of the mouth (a cleft palate), distinctive facial features, and low calcium levels, but does not appear to cause learning disabilities.

External links

• TBX1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
• Online 'Mendelian Inheritance in Man' (OMIM) 602054
• EntrezGene 6899
• GeneCard for TBX1

This article incorporates text from the United States National Library of Medicine, which is in the public domain.