Tbx1
entrez
21380
canonical
uniprot
P70323
canonical
ensembl
ENSMUSG00000009097
resolver
ensp
ENSMUSP00000009241
resolver
ensp
ENSMUSP00000156061
resolver
enst
ENSMUST00000009241
resolver
enst
ENSMUST00000232335
resolver
genesymbol
Tbx1
resolver
uniprot
A0A338P6Q7
resolver
uniprot
B9EII4
resolver
uniprot
F6ZP09
resolver
uniprot
Q60706
resolver
uniprot
Q99MP0
resolver
uniprot
Q99P22
resolver
uniprot_entry
A0A338P6Q7_MOUSE
resolver
uniprot_entry
B9EII4_MOUSE
resolver
uniprot_entry
F6ZP09_MOUSE
resolver
uniprot_entry
TBX1_MOUSE
resolver
uniprot_sec
Q60706
resolver
uniprot_sec
Q99MP0
resolver
uniprot_sec
Q99P22
resolver
amino_acid_sequence
MHFSTVTRDMEAFAASSLSGLGSPSPGADPFGPREPPPPRYDPCAAVPGAPGPPPPRAYPFAPAPGAAGSSAAESEGPGASRAAAVKAPVKKNPKVASVSVQLEMKALWDEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGQIILNSMHRYQPRFHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDPEDWPRNHRPGALPLVSAFARSRNPVASPTQPNGSDKDAAEARREFDRDSGPAALGDATHPPQLLARVLSPALPGPGGLVPLPGGSGGRHSPPHADLRLEAPGASEPLHHHPYKYPAAAYDHYLGAKSRPAPYPLPGLRGHGYHPHAHPHAHPHHHHHPAVNPAAAAAAAAAANVYSSAAAPPGAYDYCPR
uniprot
proteins
function
FUNCTION: Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development (PubMed:11239417, PubMed:11242049, PubMed:11242110, PubMed:11412027, PubMed:15703190, PubMed:16556915). Also involved in craniofacial muscle development (PubMed:15385444). Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2 (PubMed:16556915). Acts upstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch (PubMed:31412026). Required for hair follicle stem cell self-renewal (PubMed:22495305). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence (By similarity). {ECO:0000250|UniProtKB:O43435, ECO:0000269|PubMed:11239417, ECO:0000269|PubMed:11242049, ECO:0000269|PubMed:11242110, ECO:0000269|PubMed:11412027, ECO:0000269|PubMed:15385444, ECO:0000269|PubMed:15703190, ECO:0000269|PubMed:16556915, ECO:0000269|PubMed:22495305, ECO:0000269|PubMed:31412026}.
uniprot
proteins
mass_dalton
51668
uniprot
proteins
mutagenesis
MUTAGEN 137; /note="F->Y: Does not affect transcription factor activity or nuclear localization."; /evidence="ECO:0000269|PubMed:15703190"; MUTAGEN 299; /note="G->S: Does not affect transcription factor activity or nuclear localization."; /evidence="ECO:0000269|PubMed:15703190"; MUTAGEN 417..421; /note="RPAPY->APAPA: Abolished nuclear localization."; /evidence="ECO:0000269|PubMed:15703190
uniprot
proteins
pubmed
11239417
uniprot
proteins
pubmed
11242049
uniprot
proteins
pubmed
11242110
uniprot
proteins
pubmed
11412027
uniprot
proteins
pubmed
15385444
uniprot
proteins
pubmed
15703190
uniprot
proteins
pubmed
16556915
uniprot
proteins
pubmed
21177346
uniprot
proteins
pubmed
22495305
uniprot
proteins
pubmed
31412026
uniprot
proteins
pubmed
7920656
uniprot
proteins
pubmed
8853987
uniprot
proteins
pubmed
8878690
uniprot
proteins
sequence_length
479
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201, ECO:0000269|PubMed:15703190}.
uniprot
proteins