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