TBX1 (Homo sapiens)
T-box

TF Information

Pfam ID Interpro ID Gene ID CIS-BP ID Sequence source Animal TF db
PF00907 (T-box) IPR001699 ENSG00000184058 T339900_2.00 Ensembl (2018-Dec-8) Link out
NCBI Gene Info:
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Directly determined binding motifs

Name/Motif ID Species Forward Reverse Type/Study/Study ID SR
Score		 DBD
Identity
TBX1
M03570_2.00		 Homo sapiens
ARGTGTKAAAWHARGTGTGA
TCACACYTDWTTTMACACYT		 SELEX
Jolma et al.(2013)
TBX1_1		 (Direct) (Direct)
TBX1
M03571_2.00		 Homo sapiens
AGGTGTGAWWTTCACACCT
AGGTGTGAAWWTCACACCT		 SELEX
Jolma et al.(2013)
TBX1_2		 (Direct) (Direct)
TBX1
M03572_2.00		 Homo sapiens
AGGTGTGA
TCACACCT		 SELEX
Jolma et al.(2013)
TBX1_3		 (Direct) (Direct)
TBX1
M03573_2.00		 Homo sapiens
YYTCACACMTYWRAGGTGTGAAA
TTTCACACCTYWRAKGTGTGARR		 SELEX
Jolma et al.(2013)
TBX1_4		 (Direct) (Direct)
TBX1
M03574_2.00		 Homo sapiens
YTCACACCTDKAGGTGTGAA
TTCACACCTMHAGGTGTGAR		 SELEX
Jolma et al.(2013)
TBX1_5		 (Direct) (Direct)
TBX1
M05821_2.00		 Homo sapiens
BDRGGTGTGARV
BYTCACACCYHV		 SELEX
Yin et al.(2017)
TBX1_eDBD_HT-SELEX		 (Direct) (Direct)
TBX1
M05822_2.00		 Homo sapiens
DNWGGTGTGARN
NYTCACACCWNH		 SELEX
Yin et al.(2017)
TBX1_eDBD_Methyl-HT-SELEX		 (Direct) (Direct)

Motifs from related TFs

Name/Motif ID Species Forward Reverse Type/Study/Study ID SR
Score		 DBD
Identity
Tbx1
M00832_2.00 		Mus musculus
NRGTGTGAANN
NNTTCACACYN		 PBM
Weirauch et al.(2013)
pTH3822 		0.920 1.000
Tbx1
M11386_2.00 		Mus musculus Transfac license required
 Transfac license required
 Transfac
Matys et al.(2006)
V$TBX1_07 		0.920 1.000
org-1
M03988_2.00 		Drosophila melanogaster
DRGTGTBAD
HTVACACYH		 SELEX
Nitta et al.(2015)
org-1_1 		0.739 0.725
org-1
M03989_2.00 		Drosophila melanogaster
TRACACYTARGTGTGA
TCACACYTARGTGTYA		 SELEX
Nitta et al.(2015)
org-1_2 		0.739 0.725
For this family, TFs with SR scores > 0.734 will likely have a similar motif

DNA Binding Domains

Protein ID Domain From To Sequence
ENSP00000331176 T-box 112 297
ENSP00000331791 T-box 112 297
ENSP00000352483 T-box 112 297
ENSP00000477982 T-box 112 297

Links

Other T-box family TFs
Other Homo sapiens TFs

Invalid Input OrderBy

128 Related TFs

Name Species Gene ID Motif Evidence SR
Score		 Action