ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Acts upstream of or within several processes, including chordate pharyngeal muscle development; embryonic organ morphogenesis; and positive regulation of secondary heart field cardioblast proliferation. Predicted to be active in chromatin and nucleus. Is expressed in several structures, including cardiovascular system; mesoderm; pharyngeal arch; presumptive paraxial mesoderm; and vestibuloauditory system. Used to study DiGeorge syndrome and velocardiofacial syndrome. Human ortholog(s) of this gene implicated in several diseases, including DiGeorge syndrome; congenital heart disease (multiple); hypoparathyroidism; sensorineural hearing loss; and velocardiofacial syndrome. Orthologous to human TBX1 (T-box transcription factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 59 figures from 40 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 | Additional Resources | 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 | InterPro | 519 | |||||
| UniProtKB:A0A8M3AZB3 | InterPro | 502 | |||||
| UniProtKB:Q8AXX2 | InterPro | 460 | |||||
| UniProtKB:A0AB32TU76 | InterPro | 449 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers