Gene
tbx1
- ID
- ZDB-GENE-030805-5
- Name
- T-box transcription factor 1
- Symbol
- tbx1 Nomenclature History
- Previous Names
-
- mp:zf637-3-000616
- van gogh
- vgo
- zgc:136724
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to have several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II activating transcription factor binding activity; and protein homodimerization activity. Involved in animal organ development; pharyngeal system development; and positive regulation of secondary heart field cardioblast proliferation. Predicted to localize to nucleus. Used to study DiGeorge syndrome and velocardiofacial syndrome. Human ortholog(s) of this gene implicated in DiGeorge syndrome; tetralogy of Fallot; and velocardiofacial syndrome. Is expressed in several structures, including cardiovascular system; mesoderm; pharyngeal arch; shield; and vestibuloauditory system. Orthologous to human TBX1 (T-box transcription factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 58 figures from 39 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 44 figures from 13 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
DiGeorge syndrome | Alliance | DiGeorge syndrome | 188400 |
double outlet right ventricle | Alliance | Conotruncal anomaly face syndrome | 217095 |
tetralogy of Fallot | Alliance | Tetralogy of Fallot | 187500 |
velocardiofacial syndrome | Alliance | Velocardiofacial syndrome | 192430 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
velocardiofacial syndrome | tbx1tm208/tm208 | standard conditions | Piotrowski et al., 2003 |
DiGeorge syndrome | tbx1tm208/tm208 | standard conditions | Piotrowski et al., 2003 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR018186 | Transcription factor, T-box, conserved site |
Domain | IPR046360 | T-box transcription factor, DNA-binding domain |
Family | IPR001699 | T-box transcription factor |
Homologous_superfamily | IPR008967 | p53-like transcription factor, DNA-binding domain superfamily |
Homologous_superfamily | IPR036960 | T-box superfamily |
Domain Details Per Protein
Protein | Length | p53-like transcription factor, DNA-binding domain superfamily | T-box superfamily | T-box transcription factor | T-box transcription factor, DNA-binding domain | Transcription factor, T-box, conserved site |
---|---|---|---|---|---|---|
UniProtKB:A0A8M2BFX3
|
519 | |||||
UniProtKB:A0A8M3AZB3
|
502 | |||||
UniProtKB:Q8AXX2
|
460 |
Interactions and Pathways
No data available
Plasmids
No data available