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
Expression
All Expression Data
53 figures from 35 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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
Family IPR001699 Transcription factor, T-box
Homologous_superfamily IPR008967 p53-like transcription factor, DNA-binding
Homologous_superfamily IPR036960 T-box superfamily
Domain Details Per Protein
Protein Length p53-like transcription factor, DNA-binding T-box superfamily Transcription factor, T-box Transcription factor, T-box, conserved site
UniProtKB:Q8AXX2 460
UniProtKB:B8JJ43 468
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations