Human Gene TBX1 (ENST00000332710.8) from GENCODE V43
Description: Homo sapiens T-box transcription factor 1 (TBX1), transcript variant C, mRNA. (from RefSeq NM_080647) RefSeq Summary (NM_080647): 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]. Gencode Transcript: ENST00000332710.8 Gencode Gene: ENSG00000184058.16 Transcript (Including UTRs) Position: hg38 chr22:19,756,703-19,767,334 Size: 10,632 Total Exon Count: 9 Strand: + Coding Region Position: hg38 chr22:19,759,644-19,766,867 Size: 7,224 Coding Exon Count: 8
ID:TBX1_HUMAN DESCRIPTION: RecName: Full=T-box transcription factor TBX1; Short=T-box protein 1; AltName: Full=Testis-specific T-box protein; FUNCTION: Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity). SUBCELLULAR LOCATION: Nucleus (Potential). DISEASE: Note=Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life. DISEASE: Defects in TBX1 are a cause of DiGeorge syndrome (DGS) [MIM:188400]. DISEASE: Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS) [MIM:192430]. DISEASE: Defects in TBX1 are a cause of conotruncal heart malformations (CTHM) [MIM:217095]. CTHM consist of cardiac outflow tract defects, such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies. SIMILARITY: Contains 1 T-box DNA-binding domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O43435
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0042803 protein homodimerization activity GO:0043565 sequence-specific DNA binding GO:0046983 protein dimerization activity GO:0003700 transcription factor activity, sequence-specific DNA binding
Biological Process: GO:0001525 angiogenesis GO:0001568 blood vessel development GO:0001708 cell fate specification GO:0001755 neural crest cell migration GO:0001934 positive regulation of protein phosphorylation GO:0001945 lymph vessel development GO:0002053 positive regulation of mesenchymal cell proliferation GO:0003007 heart morphogenesis GO:0003148 outflow tract septum morphogenesis GO:0003151 outflow tract morphogenesis GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0007275 multicellular organism development GO:0007368 determination of left/right symmetry GO:0007389 pattern specification process GO:0007498 mesoderm development GO:0007507 heart development GO:0007517 muscle organ development GO:0007605 sensory perception of sound GO:0008283 cell proliferation GO:0008284 positive regulation of cell proliferation GO:0009952 anterior/posterior pattern specification GO:0021644 vagus nerve morphogenesis GO:0030855 epithelial cell differentiation GO:0030878 thyroid gland development GO:0035176 social behavior GO:0035909 aorta morphogenesis GO:0042471 ear morphogenesis GO:0042472 inner ear morphogenesis GO:0042473 outer ear morphogenesis GO:0042474 middle ear morphogenesis GO:0042475 odontogenesis of dentin-containing tooth GO:0042693 muscle cell fate commitment GO:0043410 positive regulation of MAPK cascade GO:0043587 tongue morphogenesis GO:0044344 cellular response to fibroblast growth factor stimulus GO:0045596 negative regulation of cell differentiation GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048384 retinoic acid receptor signaling pathway GO:0048514 blood vessel morphogenesis GO:0048538 thymus development GO:0048644 muscle organ morphogenesis GO:0048701 embryonic cranial skeleton morphogenesis GO:0048703 embryonic viscerocranium morphogenesis GO:0048752 semicircular canal morphogenesis GO:0048844 artery morphogenesis GO:0050679 positive regulation of epithelial cell proliferation GO:0060017 parathyroid gland development GO:0060023 soft palate development GO:0060037 pharyngeal system development GO:0060325 face morphogenesis GO:0060415 muscle tissue morphogenesis GO:0060982 coronary artery morphogenesis GO:0070166 enamel mineralization GO:0071300 cellular response to retinoic acid GO:0090103 cochlea morphogenesis GO:0097152 mesenchymal cell apoptotic process GO:2000027 regulation of organ morphogenesis GO:2001037 positive regulation of tongue muscle cell differentiation GO:2001054 negative regulation of mesenchymal cell apoptotic process
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