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
Expression
All Expression Data
58 figures from 39 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
44 figures from 13 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With tbx1 Human Ortholog
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
Associated With tbx1 Via Experimental Models
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations