TBX1

TBX1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4A04
Identifiers
Aliases	TBX1, CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS, T-box 1, T-box transcription factor 1
External IDs	OMIM: 602054 MGI: 98493 HomoloGene: 7966 GeneCards: TBX1
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q11.21 Start 19,756,703 bp[1] End 19,783,593 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 A3|16 Start 18,399,729 bp[2] End 18,409,421 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle biceps brachii sperm vastus lateralis muscle right lobe of thyroid gland left lobe of thyroid gland skin of abdomen tibialis anterior muscle middle frontal gyrus left uterine tube Top expressed in digastric muscle lip external carotid artery internal carotid artery tibialis anterior muscle temporal muscle esophagus masseter muscle stria vascularis ankle More reference expression data BioGPS n/a
Gene ontology Molecular function sequence-specific DNA binding protein dimerization activity protein homodimerization activity DNA-binding transcription factor activity DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process pattern specification process negative regulation of mesenchymal cell apoptotic process cellular response to retinoic acid positive regulation of protein phosphorylation semicircular canal morphogenesis regulation of transcription, DNA-templated epithelial cell differentiation blood vessel morphogenesis muscle organ morphogenesis tongue morphogenesis positive regulation of tongue muscle cell differentiation positive regulation of epithelial cell proliferation thymus development mesenchymal cell apoptotic process cell fate specification negative regulation of cell differentiation soft palate development muscle cell fate commitment coronary artery morphogenesis muscle organ development heart morphogenesis outflow tract morphogenesis vagus nerve morphogenesis outer ear morphogenesis sensory perception of sound cellular response to fibroblast growth factor stimulus aorta morphogenesis lymph vessel development transcription, DNA-templated outflow tract septum morphogenesis ear morphogenesis odontogenesis of dentin-containing tooth multicellular organism development heart development thyroid gland development determination of left/right symmetry retinoic acid receptor signaling pathway blood vessel development positive regulation of mesenchymal cell proliferation parathyroid gland development inner ear morphogenesis muscle tissue morphogenesis cochlea morphogenesis angiogenesis neural crest cell migration positive regulation of cell population proliferation artery morphogenesis middle ear morphogenesis social behavior embryonic cranial skeleton morphogenesis embryonic viscerocranium morphogenesis enamel mineralization mesoderm development cell population proliferation face morphogenesis anterior/posterior pattern specification positive regulation of MAPK cascade positive regulation of transcription by RNA polymerase II pharyngeal system development regulation of animal organ morphogenesis regulation of transcription by RNA polymerase II positive regulation of transcription, DNA-templated Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6899 21380 Ensembl ENSG00000184058 ENSMUSG00000009097 UniProt O43435 P70323 RefSeq (mRNA) NM_005992 NM_080646 NM_080647 NM_001379200 NM_001285472 NM_001285476 NM_011532 NM_001373938 RefSeq (protein) NP_005983 NP_542377 NP_542378 NP_001366129 NP_001272401 NP_001272405 NP_035662 Location (UCSC) Chr 22: 19.76 – 19.78 Mb Chr 16: 18.4 – 18.41 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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.^[5] Genes in the T-box family are transcription factors that play important roles in the formation of tissues and organs during embryonic development.^[6] To carry out these roles, proteins made by this gene family bind to specific areas of DNA called T-box binding element (TBE)^[6] to control the expression of target genes.

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.^[5]

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.^[7][8] Although the T-box 1 protein acts as a transcription factor, it is not yet known which genes are regulated by the protein.

TBX1 is thought to operate on the same developmental pathway as CHD7 which can be mutated in CHARGE syndrome. ^[9]

Clinical significance

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.^[10][11][12]

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.^[13][14]

Mutation in TBX1 causes predisposition to hernias.^[15]

References

Further reading

External links

• TBX1+protein,+human at the U.S. 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.