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 DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA 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 nuclear chromatin. Is expressed in several structures, including cardiovascular system; mesoderm; pharyngeal arch; shield; and vestibuloauditory system. Used to study DiGeorge syndrome and velocardiofacial syndrome. Human ortholog(s) of this gene implicated in DiGeorge syndrome; tetralogy of Fallot; and velocardiofacial syndrome. 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
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