Tbx1 - T-box 1 Gene

Mus musculus

Also known as nmf219

Gene ID: 21380 | Gene type: protein coding

About Tbx1

Summary

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including animal organ morphogenesis; positive regulation of tongue muscle cell differentiation; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including animal organ development; regulation of transcription, DNA-templated; and vasculature development. Located in nucleus. Is expressed in several structures, including alimentary system; branchial arch; ear; embryo mesenchyme; and heart. Used to study DiGeorge syndrome; autism spectrum disorder; otitis media; 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). [provided by Alliance of Genome Resources, Apr 2022]

Tbx1 Products(4)

mRNA	Protein	Name
NM_001285472.1	NP_001272401.1	T-box transcription factor TBX1 isoform 2
NM_001285476.1	NP_001272405.1	T-box transcription factor TBX1 isoform 3
NM_001373938.1	NP_001360867.1	T-box transcription factor TBX1 isoform 4
NM_011532.2	NP_035662.1	T-box transcription factor TBX1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	16556915	MGI
enables RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	16556915	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	20463296	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within ameloblast differentiation	IMP IMP: Inferred from mutant phenotype	19233155	MGI
acts upstream of or within angiogenesis	IMP IMP: Inferred from mutant phenotype	11971873	MGI
acts upstream of or within anterior/posterior pattern specification	IGI IGI: Inferred from genetic interaction	16399080	MGI
acts upstream of or within anterior/posterior pattern specification	IMP IMP: Inferred from mutant phenotype	15084464	MGI
acts upstream of or within aorta morphogenesis	IGI IGI: Inferred from genetic interaction	21364285	MGI
acts upstream of or within aorta morphogenesis	IMP IMP: Inferred from mutant phenotype	17916582	MGI
acts upstream of or within artery morphogenesis	IGI IGI: Inferred from genetic interaction	19700621	MGI
acts upstream of or within artery morphogenesis	IMP IMP: Inferred from mutant phenotype	11242110	MGI
acts upstream of or within blood vessel development	IGI IGI: Inferred from genetic interaction	16399080	MGI
acts upstream of or within blood vessel development	IMP IMP: Inferred from mutant phenotype	11242049	MGI
acts upstream of or within blood vessel morphogenesis	IMP IMP: Inferred from mutant phenotype	11239417	MGI
acts upstream of or within blood vessel remodeling	IGI IGI: Inferred from genetic interaction	17000704	MGI
acts upstream of cell population proliferation	IMP IMP: Inferred from mutant phenotype	16141220	MGI
involved in cellular response to fibroblast growth factor stimulus	IMP IMP: Inferred from mutant phenotype	20807544	MGI
involved in cellular response to retinoic acid	IEP IEP: Inferred from expression pattern	18816858	MGI
involved in cochlea morphogenesis	IGI IGI: Inferred from genetic interaction	18231833	MGI
acts upstream of or within cochlea morphogenesis	IMP IMP: Inferred from mutant phenotype	17825816	MGI
acts upstream of or within coronary artery morphogenesis	IMP IMP: Inferred from mutant phenotype	18583714	MGI
involved in cranial skeletal system development	IGI IGI: Inferred from genetic interaction	19247433	MGI
acts upstream of or within determination of left/right symmetry	IMP IMP: Inferred from mutant phenotype	16556915	MGI
acts upstream of or within ear morphogenesis	IMP IMP: Inferred from mutant phenotype	15190012	MGI
acts upstream of or within embryonic cranial skeleton morphogenesis	IMP IMP: Inferred from mutant phenotype	15190012	MGI
acts upstream of or within enamel mineralization	IMP IMP: Inferred from mutant phenotype	19233155	MGI
acts upstream of epithelial cell proliferation	IMP IMP: Inferred from mutant phenotype	17074316	MGI
acts upstream of or within face morphogenesis	IMP IMP: Inferred from mutant phenotype	20501333	MGI
acts upstream of or within hard palate development	IMP IMP: Inferred from mutant phenotype	30121012	MGI
acts upstream of or within heart development	IGI IGI: Inferred from genetic interaction	16399080	MGI
acts upstream of or within heart development	IMP IMP: Inferred from mutant phenotype	11239417	MGI
involved in heart development	IMP IMP: Inferred from mutant phenotype	21177346	MGI
acts upstream of or within heart morphogenesis	IMP IMP: Inferred from mutant phenotype	15175244	MGI
acts upstream of or within inner ear morphogenesis	IMP IMP: Inferred from mutant phenotype	12913075	MGI
acts upstream of or within lymph vessel development	IMP IMP: Inferred from mutant phenotype	20439995	MGI
involved in mesenchymal cell apoptotic process	IMP IMP: Inferred from mutant phenotype	18231833	MGI
acts upstream of or within mesenchymal cell proliferation	IDA IDA: Inferred from direct assay	16914493	MGI
acts upstream of or within mesoderm development	IMP IMP: Inferred from mutant phenotype	11242110	MGI
acts upstream of or within middle ear morphogenesis	IMP IMP: Inferred from mutant phenotype	15652707	MGI
acts upstream of or within muscle cell fate commitment	IMP IMP: Inferred from mutant phenotype	18816853	MGI
acts upstream of or within muscle organ development	IMP IMP: Inferred from mutant phenotype	15385444	MGI
acts upstream of or within muscle organ morphogenesis	IGI IGI: Inferred from genetic interaction	19531352	MGI
acts upstream of or within muscle tissue morphogenesis	IMP IMP: Inferred from mutant phenotype	19531352	MGI
acts upstream of or within negative regulation of cell differentiation	IMP IMP: Inferred from mutant phenotype	19745164	MGI
involved in negative regulation of mesenchymal cell apoptotic process	IGI IGI: Inferred from genetic interaction	18231833	MGI
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	20122914	MGI
acts upstream of or within neural crest cell migration	IMP IMP: Inferred from mutant phenotype	15652707	MGI
acts upstream of or within neuron fate specification	IGI IGI: Inferred from genetic interaction	15064766	MGI
acts upstream of or within neuron fate specification	IMP IMP: Inferred from mutant phenotype	15084464	MGI
acts upstream of or within odontogenesis of dentin-containing tooth	IMP IMP: Inferred from mutant phenotype	19233155	MGI
acts upstream of or within otic vesicle morphogenesis	IMP IMP: Inferred from mutant phenotype	17074316	MGI
acts upstream of or within outer ear morphogenesis	IMP IMP: Inferred from mutant phenotype	16600992	MGI
acts upstream of or within outflow tract morphogenesis	IGI IGI: Inferred from genetic interaction	21364285	MGI
acts upstream of or within outflow tract morphogenesis	IMP IMP: Inferred from mutant phenotype	17916582	MGI
involved in outflow tract septum morphogenesis	IMP IMP: Inferred from mutant phenotype	20807544	MGI
involved in parathyroid gland development	IMP IMP: Inferred from mutant phenotype	31412026	MGI
acts upstream of or within pattern specification process	IGI IGI: Inferred from genetic interaction	16399080	MGI
acts upstream of or within pattern specification process	IMP IMP: Inferred from mutant phenotype	15385444	MGI
acts upstream of or within pharyngeal system development	IGI IGI: Inferred from genetic interaction	21364285	MGI
acts upstream of or within pharyngeal system development	IMP IMP: Inferred from mutant phenotype	16141220	MGI
involved in pharyngeal system development	IMP IMP: Inferred from mutant phenotype	21177346	MGI
acts upstream of or within positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	15175244	MGI
involved in positive regulation of MAPK cascade	IMP IMP: Inferred from mutant phenotype	20807544	MGI
acts upstream of or within positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	16141220	MGI
acts upstream of or within positive regulation of epithelial cell proliferation	IMP IMP: Inferred from mutant phenotype	17074316	MGI
involved in positive regulation of epithelial cell proliferation	IMP IMP: Inferred from mutant phenotype	18231833	MGI
involved in positive regulation of mesenchymal cell proliferation	IMP IMP: Inferred from mutant phenotype	18231833	MGI
involved in positive regulation of protein phosphorylation	IMP IMP: Inferred from mutant phenotype	20807544	MGI
acts upstream of or within positive regulation of secondary heart field cardioblast proliferation	IDA IDA: Inferred from direct assay	19745164	MGI
involved in positive regulation of tongue muscle cell differentiation	IMP IMP: Inferred from mutant phenotype	18816858	MGI
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	16556915	MGI
acts upstream of or within positive regulation of transcription by RNA polymerase II	IGI IGI: Inferred from genetic interaction	16556915	MGI
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	20122914	MGI
acts upstream of or within regulation of animal organ morphogenesis	IGI IGI: Inferred from genetic interaction	19389367	MGI
acts upstream of or within regulation of animal organ morphogenesis	IMP IMP: Inferred from mutant phenotype	17164259	MGI
acts upstream of or within regulation of transcription by RNA polymerase II	IGI IGI: Inferred from genetic interaction	20816801	MGI
involved in retinoic acid receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	18816858	MGI
acts upstream of or within semicircular canal morphogenesis	IGI IGI: Inferred from genetic interaction	19855134	MGI
acts upstream of or within sensory perception of sound	IMP IMP: Inferred from mutant phenotype	15190012	MGI
acts upstream of or within social behavior	IMP IMP: Inferred from mutant phenotype	16684884	MGI
involved in somatic stem cell population maintenance	IMP IMP: Inferred from mutant phenotype	22495305	MGI
acts upstream of or within thymus development	IMP IMP: Inferred from mutant phenotype	17916582	MGI
involved in thymus development	IMP IMP: Inferred from mutant phenotype	31412026	MGI
acts upstream of or within thyroid gland development	IGI IGI: Inferred from genetic interaction	19389367	MGI
acts upstream of or within thyroid gland development	IMP IMP: Inferred from mutant phenotype	15190012	MGI
involved in tongue morphogenesis	IMP IMP: Inferred from mutant phenotype	18816858	MGI
acts upstream of or within vagus nerve morphogenesis	IMP IMP: Inferred from mutant phenotype	20939858	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	15703190	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

T-box transcription factor TBX1

T-box protein 1

testis-specific T-box protein

Tbx1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	Tbx1	P70323	Smarcd1	Mus musculus	Q61466	Affinity Chrom	22438823
Intra	Tbx1	P70323	Smarcd1	Mus musculus	Q61466	Anti Bait CoIP	22438823
Intra	Tbx1	P70323	Hoxd10	Mus musculus	P28359	Anti Bait CoIP	22842189

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14270	TBX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS20824	Tbx1 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS27338	Tbx1 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Tbx1	NCBI	NCBI:6899

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