Sequence Detail

ID/Version

P70323 Q99MP0 Q99P22 Q60706 (UniProt | EBI)

Last sequence update: 2005-12-20
Last annotation update: 2024-05-29

Sequence description from provider

RecName: Full=T-box transcription factor TBX1; Short=T-box protein 1;AltName: Full=Testis-specific T-box protein;

Provider

SWISS-PROT

Sequence

Polypeptide 479 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Tbx1	T-box 1	157	205	3	41

Sequence references in MGI

J:18978 Bollag RJ, et al., An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus. Nat Genet. 1994 Jul;7(3):383-9
J:34541 Chapman DL, et al., Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development. Dev Dyn. 1996 Aug;206(4):379-90
J:35709 Agulnik SI, et al., Evolution of mouse T-box genes by tandem duplication and cluster dispersion. Genetics. 1996 Sep;144(1):249-54
J:67409 Lindsay EA, et al., Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature. 2001 Mar 1;410(6824):97-101
J:67796 Merscher S, et al., TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell. 2001 Feb 23;104(4):619-29
J:70279 Garg V, et al., Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development. Dev Biol. 2001 Jul 1;235(1):62-73
J:70730 Jerome LA, et al., DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet. 2001 Mar;27(3):286-91
J:94411 Kelly RG, et al., The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis. Hum Mol Genet. 2004 Nov 15;13(22):2829-40
J:98074 Stoller JZ, et al., Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. Hum Mol Genet. 2005 Apr 1;14(7):885-92
J:107397 Nowotschin S, et al., Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field. Development. 2006 Apr;133(8):1565-73
J:167713 Okubo T, et al., Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice. Development. 2011 Jan;138(2):339-48
J:183832 Chen T, et al., An RNA interference screen uncovers a new molecule in stem cell self-renewal and long-term regeneration. Nature. 2012 May 3;485(7396):104-8
J:279006 Hasten E, et al., Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome. PLoS Genet. 2019 Aug;15(8):e1008301