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 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 embryonic organ morphogenesis; pharyngeal muscle development; and positive regulation of secondary heart field cardioblast proliferation. Predicted to be located in 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

Expression

All Expression Data

59 figures from 40 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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

Human Disease	Fish	Conditions	Citations
velocardiofacial syndrome	tbx1^tm208/tm208	standard conditions	Piotrowski et al., 2003
DiGeorge syndrome	tbx1^tm208/tm208	standard conditions	Piotrowski et al., 2003

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 InterPro	519
UniProtKB:A0A8M3AZB3 InterPro	502
UniProtKB:Q8AXX2 InterPro	460

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
antisense	ottdart00000060017 (1) Ensembl	Ensembl	1,006 nt	Select Tool ZFIN BLAST
mRNA	tbx1-201 (1) Ensembl	Ensembl	2,343 nt	Select Tool ZFIN BLAST
mRNA	tbx1-202 (1) Ensembl	Ensembl	1,500 nt	Select Tool ZFIN BLAST

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