Tbio TBX1 T-box transcription factor TBX1

Protein Summary

Description

Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity). 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]

Uniprot Accession IDs

• O43435
• C6G493
• C6G494
• O43436
• Q96RJ2
• T-box protein 1

Gene Name

• TBX1

Ensembl ID

• ENST00000329705
• ENSP00000331176
• ENSG00000184058
• ENST00000332710
• ENSP00000331791
• ENST00000359500
• ENSP00000352483

Symbol

• DGS
• TGA
• VCF
• CAFS
• CTHM
• DGCR
• DORV
• VCFS
• TBX1C
• CATCH22

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	1
phenotype	0.78
PubMedID	0.65
kinase perturbation	0.6
gene perturbation	0.59

Protein Classes

PANTHER Classes

Protein / Transcription Factor / T-box Transcription Factor Tbx1

Protein / Nucleic Acid Binding / T-box Transcription Factor Tbx1

Protein / ... / Rel Homology Transcription Factor / T-box Transcription Factor Tbx1

DTO Classes

Protein / Transcription Factor / Immunoglobulin Fold Transcription Factor / Rel Homology Transcription Factor / T-box Transcription Factor Tbx1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 600.22   (req: < 5)

Gene RIFs: 59   (req: <= 3)

Antibodies: 283   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 600.22   (req: >= 5)

Gene RIFs: 59   (req: > 3)

Antibodies: 283   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 64

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0