TBX1

TBX1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4A04
Identifiers
Aliases	TBX1, CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS, T-box 1, T-box transcription factor 1
External IDs	OMIM: 602054; MGI: 98493; HomoloGene: 7966; GeneCards: TBX1; OMA:TBX1 - orthologs
Gene location (Human)
Chr.	Chromosome 22 (human)
End	19,783,593 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	18,409,421 bp
RNA expression pattern
	Top expressed in
	muscle of thigh; ; gastrocnemius muscle; ; biceps brachii; ; tendon of biceps brachii; ; Skeletal muscle tissue of biceps brachii; ; sperm; ; olfactory zone of nasal mucosa; ; vastus lateralis muscle; ; right lobe of thyroid gland; ; paraflocculus of cerebellum;
	Top expressed in
	digastric muscle; ; lip; ; vestibular membrane of cochlear duct; ; external carotid artery; ; internal carotid artery; ; muscle of thigh; ; tibialis anterior muscle; ; temporal muscle; ; esophagus; ; vestibular sensory epithelium;
	More reference expression data
	n/a
Gene ontology
Molecular function	sequence-specific DNA binding; protein dimerization activity; protein homodimerization activity; DNA-binding transcription factor activity; DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	nucleus;
Biological process	pattern specification process; negative regulation of mesenchymal cell apoptotic process; cellular response to retinoic acid; positive regulation of protein phosphorylation; semicircular canal morphogenesis; regulation of transcription, DNA-templated; epithelial cell differentiation; blood vessel morphogenesis; muscle organ morphogenesis; tongue morphogenesis; positive regulation of tongue muscle cell differentiation; positive regulation of epithelial cell proliferation; thymus development; mesenchymal cell apoptotic process; cell fate specification; negative regulation of cell differentiation; soft palate development; muscle cell fate commitment; coronary artery morphogenesis; muscle organ development; heart morphogenesis; outflow tract morphogenesis; vagus nerve morphogenesis; outer ear morphogenesis; hearing; cellular response to fibroblast growth factor stimulus; aorta morphogenesis; lymph vessel development; transcription, DNA-templated; outflow tract septum morphogenesis; ear morphogenesis; odontogenesis of dentin-containing tooth; multicellular organism development; development of the heart; thyroid gland development; determination of left/right symmetry; retinoic acid receptor signaling pathway; blood vessel development; positive regulation of mesenchymal cell proliferation; parathyroid gland development; inner ear morphogenesis; muscle tissue morphogenesis; cochlea morphogenesis; angiogenesis; neural crest cell migration; positive regulation of cell population proliferation; artery morphogenesis; middle ear morphogenesis; social behavior; embryonic cranial skeleton morphogenesis; embryonic viscerocranium morphogenesis; enamel mineralization; mesoderm development; cell population proliferation; face morphogenesis; anterior/posterior pattern specification; positive regulation of MAPK cascade; positive regulation of transcription by RNA polymerase II; pharyngeal system development; regulation of animal organ morphogenesis; regulation of transcription by RNA polymerase II; positive regulation of transcription, DNA-templated;
	Sources:Amigo / QuickGO
Orthologs
	6899
	21380
	ENSG00000184058
	ENSMUSG00000009097
	O43435
	P70323
	NM_005992; NM_080646; NM_080647; NM_001379200
	NM_001285472; NM_001285476; NM_011532; NM_001373938
	NP_005983; NP_542377; NP_542378; NP_001366129
	NP_001272401; NP_001272405; NP_035662
	Wikidata
View/Edit Human	View/Edit Mouse

T-box transcription factor TBX1 also known as T-box protein 1 and testis-specific T-box protein is a protein that in humans is encoded by the TBX1 gene. Genes in the T-box family are transcription factors that play important roles in the formation of tissues and organs during embryonic development. To carry out these roles, proteins made by this gene family bind to specific areas of DNA called T-box binding element (TBE) to control the expression of target genes.