TBX1 - T-box transcription factor 1 Gene
Also Known as DGS; TGA; VCF; CAFS; CTHM; DGCR; DORV; VCFS; TBX1C; CATCH22
Species: Homo sapiens
About TBX1
This gene has 8 transcripts (splice variants), 213 orthologues, 16 paralogues and is associated with 8 phenotypes. Biased expression in testis (RPKM 1.4), prostate (RPKM 1.1) and 13 other tissues.
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]
TBX1 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001379200.1 | NP_001366129.1 | T-box transcription factor TBX1 isoform D |
| NM_005992.1 | NP_005983.1 | T-box transcription factor TBX1 isoform B |
| NM_080646.2 | NP_542377.1 | T-box transcription factor TBX1 isoform A |
| NM_080647.1 | NP_542378.1 | T-box transcription factor TBX1 isoform C |
| Molecular Function GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| enables DNA binding |
IDA
IDA: Inferred from direct assay
|
17273972 | GOA |
| NOT enables DNA-binding transcription factor activity |
IDA
IDA: Inferred from direct assay
|
11111039 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
30241482 | GOA |
| enables protein homodimerization activity |
IDA
IDA: Inferred from direct assay
|
11111039 | GOA |
| enables sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
11111039 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| Biological Process GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| involved in embryonic viscerocranium morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
14585638 | GOA |
| involved in heart development |
IMP
IMP: Inferred from mutant phenotype
|
14585638 | GOA |
| involved in parathyroid gland development |
IMP
IMP: Inferred from mutant phenotype
|
14585638 | GOA |
| involved in pharyngeal system development |
IMP
IMP: Inferred from mutant phenotype
|
14585638 | GOA |
| involved in positive regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
17273972 | GOA |
| involved in soft palate development |
IMP
IMP: Inferred from mutant phenotype
|
14585638 | GOA |
| involved in thymus development |
IMP
IMP: Inferred from mutant phenotype
|
14585638 | GOA |
TBX1 Protein Structure
T-box: T-box (112 - 297)
- 0
- 100
- 200
- 300
- 398 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
T-box transcription factor TBX1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Velocardiofacial Syndrome |
|
|
| Digeorge Syndrome |
|
|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
|
| Conotruncal Heart Malformations |
|
|
| Tetralogy Of Fallot |
|
|
| T-Cell Immunodeficiency With Thymic Aplasia |
|
|
| Kbg Syndrome |
|
|
| Chromosome 22q11.2 Duplication Syndrome |
|
|
| Holt-Oram Syndrome |
|
|
| Ulnar-Mammary Syndrome |
|
|
| Double Outlet Right Ventricle |
|
|
| Hypoparathyroidism |
|
|
| Chromosomal Deletion Syndrome |
|
|
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
|
| Thymic Dysplasia |
|
|
| Heart Septal Defect |
|
|
| Heart Disease |
|
|
| Tricuspid Atresia |
|
|
| Cleft Palate, Isolated |
|
|
| Atrioventricular Septal Defect |
|
|
| Chromosomal Disease |
|
|
| Ankyloglossia With Or Without Tooth Anomalies |
|
|
| Atrial Heart Septal Defect |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
|
| Craniofacial Microsomia |
|
|
| Charge Syndrome |
|
|
| Patau Syndrome |
|
|
| Ventricular Septal Defect |
|
|
| Orofacial Cleft |
|
|
| Scoliosis |
|
|
| Schizophrenia |
|
|
| Potocki-Lupski Syndrome |
|
|
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
|
| Developmental And Epileptic Encephalopathy 66 |
|
|
| Hypoplastic Left Heart Syndrome |
|
|
| Transposition Of The Great Arteries, Dextro-Looped |
|
|
| Kabuki Syndrome 1 |
|
|
| Aortic Valve Disease 1 |
|
|
| Patent Foramen Ovale |
|
|
| Physical Disorder |
|
|
| Williams-Beuren Syndrome |
|
|
| Coloboma Of Macula |
|
|
| Rasopathy |
|
|
| Noonan Syndrome 1 |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | TBX1 | VGNC | VGNC:52972 |
| Felis catus | TBX1 | VGNC | VGNC:80497 |
| Mus musculus | TBX1 | MGD | MGI:98493 |
| Macaca mulatta | TBX1 | VGNC | VGNC:98456 |
| Bos taurus | TBX1 | VGNC | VGNC:106969 |
| Rattus norvegicus | TBX1 | RGD | RGD:1307734 |
| Others | TBX1 | NCBI |