TBX1_MOUSE
ID TBX1_MOUSE Reviewed; 479 AA.
AC P70323; Q60706; Q99MP0; Q99P22;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 20-DEC-2005, sequence version 2.
DT 03-AUG-2022, entry version 167.
DE RecName: Full=T-box transcription factor TBX1;
DE Short=T-box protein 1;
DE AltName: Full=Testis-specific T-box protein;
GN Name=Tbx1;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND TISSUE SPECIFICITY.
RC STRAIN=Swiss Webster / NIH;
RX PubMed=11412027; DOI=10.1006/dbio.2001.0283;
RA Garg V., Yamagishi C., Hu T., Kathiriya I.S., Yamagishi H., Srivastava D.;
RT "Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog
RT during pharyngeal arch development.";
RL Dev. Biol. 235:62-73(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND FUNCTION (ISOFORM 2).
RX PubMed=11242049; DOI=10.1038/35065105;
RA Lindsay E.A., Vitelli F., Su H., Morishima M., Huynh T., Pramparo T.,
RA Jurecic V., Ogunrinu G., Sutherland H.F., Scambler P.J., Bradley A.,
RA Baldini A.;
RT "Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch
RT defects in mice.";
RL Nature 410:97-101(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 108-291 (ISOFORMS 1/2).
RC TISSUE=Embryo;
RX PubMed=8878690; DOI=10.1093/genetics/144.1.249;
RA Agulnik S.I., Garvey N., Hancock S., Ruvinsky I., Chapman D.L., Agulnik I.,
RA Bollag R.J., Papaioannou V.E., Silver L.M.;
RT "Evolution of mouse T-box genes by tandem duplication and cluster
RT dispersion.";
RL Genetics 144:249-254(1996).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 183-267 (ISOFORMS 1/2).
RC TISSUE=Embryo;
RX PubMed=7920656; DOI=10.1038/ng0794-383;
RA Bollag R.J., Siegfried Z., Cebra-Thomas J.A., Garvey N., Davison E.M.,
RA Silver L.M.;
RT "An ancient family of embryonically expressed mouse genes sharing a
RT conserved protein motif with the T locus.";
RL Nat. Genet. 7:383-389(1994).
RN [5]
RP DEVELOPMENTAL STAGE.
RX PubMed=8853987;
RX DOI=10.1002/(sici)1097-0177(199608)206:4<379::aid-aja4>3.0.co;2-f;
RA Chapman D.L., Garvey N., Hancock S., Alexiou M., Agulnik S.I.,
RA Gibson-Brown J.J., Cebra-Thomas J., Bollag R.J., Silver L.M.,
RA Papaioannou V.E.;
RT "Expression of the T-box family genes, Tbx1-Tbx5, during early mouse
RT development.";
RL Dev. Dyn. 206:379-390(1996).
RN [6]
RP INTERACTION WITH DSCR6, AND DEVELOPMENTAL STAGE.
RX PubMed=21177346; DOI=10.1242/dev.054056;
RA Okubo T., Kawamura A., Takahashi J., Yagi H., Morishima M., Matsuoka R.,
RA Takada S.;
RT "Ripply3, a Tbx1 repressor, is required for development of the pharyngeal
RT apparatus and its derivatives in mice.";
RL Development 138:339-348(2011).
CC -!- FUNCTION: Probable transcriptional regulator involved in developmental
CC processes (PubMed:11412027). Binds to the palindromic T site 5'-
CC TTCACACCTAGGTGTGAA-3' DNA sequence (By similarity). Is required for
CC normal development of the pharyngeal arch arteries (PubMed:11412027).
CC {ECO:0000250|UniProtKB:O43435, ECO:0000269|PubMed:11412027}.
CC -!- SUBUNIT: Binds DNA as a dimer (By similarity). Interacts with DSCR6
CC (PubMed:21177346). {ECO:0000250|UniProtKB:O43435,
CC ECO:0000269|PubMed:21177346}.
CC -!- INTERACTION:
CC P70323; P28359: Hoxd10; NbExp=3; IntAct=EBI-13635846, EBI-445929;
CC P70323; Q61466: Smarcd1; NbExp=3; IntAct=EBI-13635846, EBI-371529;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P70323-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P70323-2; Sequence=VSP_016760;
CC -!- TISSUE SPECIFICITY: Expressed in skeletal muscle, lung and testis.
CC {ECO:0000269|PubMed:11412027}.
CC -!- DEVELOPMENTAL STAGE: In the developing embryo, first expressed in the
CC mesoderm at day 7.5. Expressed in the pharyngeal endoderm and the
CC mesodermal cores of the pharyngeal arches at 8.5 dpc. At day 9.5,
CC primarily expressed in the head region, specifically the mesenchyme and
CC epithelium of the pharyngeal region and the otic vesicle epithelium. By
CC day 12.5, expression is still observed in the latter as well as in the
CC tongue mesenchyme, tooth buds and branching lung epithelium.
CC {ECO:0000269|PubMed:21177346, ECO:0000269|PubMed:8853987}.
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DR EMBL; AF349658; AAK14407.1; -; mRNA.
DR EMBL; AF326960; AAG61088.1; -; mRNA.
DR EMBL; U57327; AAC53106.1; -; mRNA.
DR EMBL; U15565; AAC52696.1; -; mRNA.
DR CCDS; CCDS28023.1; -. [P70323-2]
DR CCDS; CCDS88897.1; -. [P70323-1]
DR RefSeq; NP_035662.1; NM_011532.2.
DR AlphaFoldDB; P70323; -.
DR SMR; P70323; -.
DR BioGRID; 203984; 5.
DR IntAct; P70323; 3.
DR STRING; 10090.ENSMUSP00000009241; -.
DR iPTMnet; P70323; -.
DR PhosphoSitePlus; P70323; -.
DR PaxDb; P70323; -.
DR PRIDE; P70323; -.
DR ProteomicsDB; 263014; -. [P70323-1]
DR ProteomicsDB; 263015; -. [P70323-2]
DR DNASU; 21380; -.
DR GeneID; 21380; -.
DR KEGG; mmu:21380; -.
DR CTD; 6899; -.
DR MGI; MGI:98493; Tbx1.
DR eggNOG; KOG3586; Eukaryota.
DR InParanoid; P70323; -.
DR OrthoDB; 1185429at2759; -.
DR PhylomeDB; P70323; -.
DR BioGRID-ORCS; 21380; 1 hit in 75 CRISPR screens.
DR ChiTaRS; Litaf; mouse.
DR PRO; PR:P70323; -.
DR Proteomes; UP000000589; Unplaced.
DR RNAct; P70323; protein.
DR GO; GO:0005634; C:nucleus; IDA:MGI.
DR GO; GO:0003677; F:DNA binding; ISO:MGI.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0042803; F:protein homodimerization activity; ISS:UniProtKB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0001162; F:RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:0043565; F:sequence-specific DNA binding; ISS:UniProtKB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0036305; P:ameloblast differentiation; IMP:MGI.
DR GO; GO:0001525; P:angiogenesis; IMP:MGI.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IMP:MGI.
DR GO; GO:0035909; P:aorta morphogenesis; IMP:MGI.
DR GO; GO:0048844; P:artery morphogenesis; IMP:MGI.
DR GO; GO:0001568; P:blood vessel development; IMP:MGI.
DR GO; GO:0048514; P:blood vessel morphogenesis; IMP:MGI.
DR GO; GO:0001974; P:blood vessel remodeling; IGI:MGI.
DR GO; GO:0001569; P:branching involved in blood vessel morphogenesis; TAS:DFLAT.
DR GO; GO:0001708; P:cell fate specification; IBA:GO_Central.
DR GO; GO:0008283; P:cell population proliferation; IMP:MGI.
DR GO; GO:0044344; P:cellular response to fibroblast growth factor stimulus; IMP:UniProtKB.
DR GO; GO:0071300; P:cellular response to retinoic acid; IEP:UniProtKB.
DR GO; GO:0090103; P:cochlea morphogenesis; IMP:MGI.
DR GO; GO:0060982; P:coronary artery morphogenesis; IMP:MGI.
DR GO; GO:1904888; P:cranial skeletal system development; IGI:MGI.
DR GO; GO:0007368; P:determination of left/right symmetry; IMP:MGI.
DR GO; GO:0042471; P:ear morphogenesis; IMP:MGI.
DR GO; GO:0048701; P:embryonic cranial skeleton morphogenesis; IMP:MGI.
DR GO; GO:0048703; P:embryonic viscerocranium morphogenesis; ISS:UniProtKB.
DR GO; GO:0070166; P:enamel mineralization; IMP:MGI.
DR GO; GO:0050673; P:epithelial cell proliferation; IMP:MGI.
DR GO; GO:0060325; P:face morphogenesis; IMP:MGI.
DR GO; GO:0060022; P:hard palate development; IMP:MGI.
DR GO; GO:0007507; P:heart development; IMP:UniProtKB.
DR GO; GO:0003007; P:heart morphogenesis; IMP:MGI.
DR GO; GO:0042472; P:inner ear morphogenesis; IMP:MGI.
DR GO; GO:0001945; P:lymph vessel development; IMP:MGI.
DR GO; GO:0097152; P:mesenchymal cell apoptotic process; IMP:UniProtKB.
DR GO; GO:0010463; P:mesenchymal cell proliferation; IDA:MGI.
DR GO; GO:0007498; P:mesoderm development; IMP:MGI.
DR GO; GO:0042474; P:middle ear morphogenesis; IMP:MGI.
DR GO; GO:0042693; P:muscle cell fate commitment; IMP:MGI.
DR GO; GO:0007517; P:muscle organ development; IMP:MGI.
DR GO; GO:0048644; P:muscle organ morphogenesis; IGI:MGI.
DR GO; GO:0060415; P:muscle tissue morphogenesis; IMP:MGI.
DR GO; GO:0045596; P:negative regulation of cell differentiation; IMP:MGI.
DR GO; GO:2001054; P:negative regulation of mesenchymal cell apoptotic process; IGI:UniProtKB.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IMP:BHF-UCL.
DR GO; GO:0001755; P:neural crest cell migration; IMP:MGI.
DR GO; GO:0048665; P:neuron fate specification; IMP:MGI.
DR GO; GO:0042475; P:odontogenesis of dentin-containing tooth; IMP:MGI.
DR GO; GO:0071600; P:otic vesicle morphogenesis; IMP:MGI.
DR GO; GO:0042473; P:outer ear morphogenesis; IMP:MGI.
DR GO; GO:0003151; P:outflow tract morphogenesis; IMP:MGI.
DR GO; GO:0003148; P:outflow tract septum morphogenesis; IMP:UniProtKB.
DR GO; GO:0060017; P:parathyroid gland development; ISS:UniProtKB.
DR GO; GO:0007389; P:pattern specification process; IMP:MGI.
DR GO; GO:0060037; P:pharyngeal system development; IMP:UniProtKB.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IMP:MGI.
DR GO; GO:0050679; P:positive regulation of epithelial cell proliferation; IMP:UniProtKB.
DR GO; GO:0043410; P:positive regulation of MAPK cascade; IMP:UniProtKB.
DR GO; GO:0002053; P:positive regulation of mesenchymal cell proliferation; IMP:UniProtKB.
DR GO; GO:0001934; P:positive regulation of protein phosphorylation; IMP:UniProtKB.
DR GO; GO:0072513; P:positive regulation of secondary heart field cardioblast proliferation; IDA:MGI.
DR GO; GO:2001037; P:positive regulation of tongue muscle cell differentiation; IMP:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:UniProtKB.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:MGI.
DR GO; GO:2000027; P:regulation of animal organ morphogenesis; IMP:MGI.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IGI:MGI.
DR GO; GO:0048384; P:retinoic acid receptor signaling pathway; IMP:UniProtKB.
DR GO; GO:0048752; P:semicircular canal morphogenesis; IGI:MGI.
DR GO; GO:0007605; P:sensory perception of sound; IMP:MGI.
DR GO; GO:0035176; P:social behavior; IMP:MGI.
DR GO; GO:0060023; P:soft palate development; ISS:UniProtKB.
DR GO; GO:0048538; P:thymus development; IMP:MGI.
DR GO; GO:0030878; P:thyroid gland development; IMP:MGI.
DR GO; GO:0043587; P:tongue morphogenesis; IMP:UniProtKB.
DR GO; GO:0021644; P:vagus nerve morphogenesis; IMP:MGI.
DR CDD; cd00182; TBOX; 1.
DR Gene3D; 2.60.40.820; -; 1.
DR InterPro; IPR008967; p53-like_TF_DNA-bd.
DR InterPro; IPR046360; T-box_DNA-bd.
DR InterPro; IPR036960; T-box_sf.
DR InterPro; IPR001699; TF_T-box.
DR InterPro; IPR018186; TF_T-box_CS.
DR PANTHER; PTHR11267; PTHR11267; 2.
DR Pfam; PF00907; T-box; 1.
DR PRINTS; PR00937; TBOX.
DR SMART; SM00425; TBOX; 1.
DR SUPFAM; SSF49417; SSF49417; 1.
DR PROSITE; PS01283; TBOX_1; 1.
DR PROSITE; PS01264; TBOX_2; 1.
DR PROSITE; PS50252; TBOX_3; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; DNA-binding; Nucleus;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..479
FT /note="T-box transcription factor TBX1"
FT /id="PRO_0000184424"
FT DNA_BIND 108..286
FT /note="T-box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00201"
FT REGION 15..86
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 311..398
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 29..62
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 325..339
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..11
FT /note="MHFSTVTRDME -> MISAVSSPWLTQLSHFCDVA (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_016760"
FT CONFLICT 174
FT /note="A -> R (in Ref. 3; AAC53106)"
FT /evidence="ECO:0000305"
FT CONFLICT 183..184
FT /note="HY -> YI (in Ref. 4; AAC52696)"
FT /evidence="ECO:0000305"
FT CONFLICT 217
FT /note="Q -> H (in Ref. 2; AAG61088, 3; AAC53106 and 4;
FT AAC52696)"
FT /evidence="ECO:0000305"
FT CONFLICT 236
FT /note="D -> A (in Ref. 3; AAC53106 and 4; AAC52696)"
FT /evidence="ECO:0000305"
FT CONFLICT 245
FT /note="A -> E (in Ref. 3; AAC53106 and 4; AAC52696)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 479 AA; 51668 MW; F6FE34621B2E7164 CRC64;
MHFSTVTRDM EAFAASSLSG LGSPSPGADP FGPREPPPPR YDPCAAVPGA PGPPPPRAYP
FAPAPGAAGS SAAESEGPGA SRAAAVKAPV KKNPKVASVS VQLEMKALWD EFNQLGTEMI
VTKAGRRMFP TFQVKLFGMD PMADYMLLMD FVPVDDKRYR YAFHSSSWLV AGKADPATPG
RVHYHPDSPA KGAQWMKQIV SFDKLKLTNN LLDDNGQIIL NSMHRYQPRF HVVYVDPRKD
SEKYAEENFK TFVFEETRFT AVTAYQNHRI TQLKIASNPF AKGFRDCDPE DWPRNHRPGA
LPLVSAFARS RNPVASPTQP NGSDKDAAEA RREFDRDSGP AALGDATHPP QLLARVLSPA
LPGPGGLVPL PGGSGGRHSP PHADLRLEAP GASEPLHHHP YKYPAAAYDH YLGAKSRPAP
YPLPGLRGHG YHPHAHPHAH PHHHHHPAVN PAAAAAAAAA ANVYSSAAAP PGAYDYCPR
