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T-box transcription factor TBX1 (T-box protein 1) (Testis-specific T-box protein)

 TBX1_MOUSE              Reviewed;         479 AA.
P70323; Q60706; Q99MP0; Q99P22;
01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
20-DEC-2005, sequence version 2.
25-OCT-2017, entry version 144.
RecName: Full=T-box transcription factor TBX1;
Short=T-box protein 1;
AltName: Full=Testis-specific T-box protein;
Name=Tbx1;
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND TISSUE
SPECIFICITY.
STRAIN=Swiss Webster / NIH;
PubMed=11412027; DOI=10.1006/dbio.2001.0283;
Garg V., Yamagishi C., Hu T., Kathiriya I.S., Yamagishi H.,
Srivastava D.;
"Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic
hedgehog during pharyngeal arch development.";
Dev. Biol. 235:62-73(2001).
[2]
NUCLEOTIDE SEQUENCE [MRNA], AND FUNCTION (ISOFORM 2).
PubMed=11242049; DOI=10.1038/35065105;
Lindsay E.A., Vitelli F., Su H., Morishima M., Huynh T., Pramparo T.,
Jurecic V., Ogunrinu G., Sutherland H.F., Scambler P.J., Bradley A.,
Baldini A.;
"Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic
arch defects in mice.";
Nature 410:97-101(2001).
[3]
NUCLEOTIDE SEQUENCE [MRNA] OF 108-291 (ISOFORMS 1/2).
TISSUE=Embryo;
PubMed=8878690;
Agulnik S.I., Garvey N., Hancock S., Ruvinsky I., Chapman D.L.,
Agulnik I., Bollag R.J., Papaioannou V.E., Silver L.M.;
"Evolution of mouse T-box genes by tandem duplication and cluster
dispersion.";
Genetics 144:249-254(1996).
[4]
NUCLEOTIDE SEQUENCE [MRNA] OF 183-267 (ISOFORMS 1/2).
TISSUE=Embryo;
PubMed=7920656; DOI=10.1038/ng0794-383;
Bollag R.J., Siegfried Z., Cebra-Thomas J.A., Garvey N., Davison E.M.,
Silver L.M.;
"An ancient family of embryonically expressed mouse genes sharing a
conserved protein motif with the T locus.";
Nat. Genet. 7:383-389(1994).
[5]
DEVELOPMENTAL STAGE.
PubMed=8853987;
DOI=10.1002/(SICI)1097-0177(199608)206:4<379::AID-AJA4>3.0.CO;2-F;
Chapman D.L., Garvey N., Hancock S., Alexiou M., Agulnik S.I.,
Gibson-Brown J.J., Cebra-Thomas J., Bollag R.J., Silver L.M.,
Papaioannou V.E.;
"Expression of the T-box family genes, Tbx1-Tbx5, during early mouse
development.";
Dev. Dyn. 206:379-390(1996).
[6]
INTERACTION WITH DSCR6, AND DEVELOPMENTAL STAGE.
PubMed=21177346; DOI=10.1242/dev.054056;
Okubo T., Kawamura A., Takahashi J., Yagi H., Morishima M.,
Matsuoka R., Takada S.;
"Ripply3, a Tbx1 repressor, is required for development of the
pharyngeal apparatus and its derivatives in mice.";
Development 138:339-348(2011).
-!- FUNCTION: Probable transcriptional regulator involved in
developmental processes. Is required for normal development of the
pharyngeal arch arteries. {ECO:0000269|PubMed:11412027}.
-!- SUBUNIT: Interacts with DSCR6. {ECO:0000269|PubMed:21177346}.
-!- INTERACTION:
P28359:Hoxd10; NbExp=3; IntAct=EBI-13635846, EBI-445929;
Q61466:Smarcd1; NbExp=3; IntAct=EBI-13635846, EBI-371529;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00201}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=P70323-1; Sequence=Displayed;
Name=2;
IsoId=P70323-2; Sequence=VSP_016760;
-!- TISSUE SPECIFICITY: Expressed in skeletal muscle, lung and testis.
{ECO:0000269|PubMed:11412027}.
-!- DEVELOPMENTAL STAGE: In the developing embryo, first expressed in
the mesoderm at day 7.5. Expressed in the pharyngeal endoderm and
the mesodermal cores of the pharyngeal arches at 8.5 dpc. At day
9.5, primarily expressed in the head region, specifically the
mesenchyme and epithelium of the pharyngeal region and the otic
vesicle epithelium. By day 12.5, expression is still observed in
the latter as well as in the tongue mesenchyme, tooth buds and
branching lung epithelium. {ECO:0000269|PubMed:21177346,
ECO:0000269|PubMed:8853987}.
-----------------------------------------------------------------------
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Distributed under the Creative Commons Attribution-NoDerivs License
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EMBL; AF349658; AAK14407.1; -; mRNA.
EMBL; AF326960; AAG61088.1; -; mRNA.
EMBL; U57327; AAC53106.1; -; mRNA.
EMBL; U15565; AAC52696.1; -; mRNA.
CCDS; CCDS28023.1; -. [P70323-2]
RefSeq; NP_035662.1; NM_011532.2.
UniGene; Mm.295194; -.
ProteinModelPortal; P70323; -.
SMR; P70323; -.
BioGrid; 203984; 5.
IntAct; P70323; 3.
STRING; 10090.ENSMUSP00000009241; -.
iPTMnet; P70323; -.
PhosphoSitePlus; P70323; -.
PaxDb; P70323; -.
PRIDE; P70323; -.
GeneID; 21380; -.
KEGG; mmu:21380; -.
CTD; 6899; -.
MGI; MGI:98493; Tbx1.
eggNOG; KOG3586; Eukaryota.
eggNOG; ENOG410Y98J; LUCA.
HOGENOM; HOG000286000; -.
HOVERGEN; HBG014448; -.
InParanoid; P70323; -.
KO; K10175; -.
PhylomeDB; P70323; -.
PRO; PR:P70323; -.
Proteomes; UP000000589; Unplaced.
CleanEx; MM_TBX1; -.
GO; GO:0005634; C:nucleus; IDA:MGI.
GO; GO:0003677; F:DNA binding; ISO:MGI.
GO; GO:0042803; F:protein homodimerization activity; ISS:UniProtKB.
GO; GO:0001162; F:RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
GO; GO:0043565; F:sequence-specific DNA binding; ISS:UniProtKB.
GO; GO:0001228; F:transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding; IDA:NTNU_SB.
GO; GO:0001525; P:angiogenesis; IMP:MGI.
GO; GO:0009952; P:anterior/posterior pattern specification; IMP:MGI.
GO; GO:0035909; P:aorta morphogenesis; IMP:MGI.
GO; GO:0048844; P:artery morphogenesis; IMP:MGI.
GO; GO:0001568; P:blood vessel development; IMP:MGI.
GO; GO:0048514; P:blood vessel morphogenesis; IMP:MGI.
GO; GO:0001974; P:blood vessel remodeling; IGI:MGI.
GO; GO:0001569; P:branching involved in blood vessel morphogenesis; TAS:DFLAT.
GO; GO:0001708; P:cell fate specification; IMP:MGI.
GO; GO:0008283; P:cell proliferation; IDA:MGI.
GO; GO:0044344; P:cellular response to fibroblast growth factor stimulus; IMP:UniProtKB.
GO; GO:0071300; P:cellular response to retinoic acid; IEP:UniProtKB.
GO; GO:0090103; P:cochlea morphogenesis; IMP:MGI.
GO; GO:0060982; P:coronary artery morphogenesis; IMP:MGI.
GO; GO:0007368; P:determination of left/right symmetry; IMP:MGI.
GO; GO:0042471; P:ear morphogenesis; IMP:MGI.
GO; GO:0048701; P:embryonic cranial skeleton morphogenesis; IMP:MGI.
GO; GO:0048703; P:embryonic viscerocranium morphogenesis; ISS:UniProtKB.
GO; GO:0070166; P:enamel mineralization; IMP:MGI.
GO; GO:0030855; P:epithelial cell differentiation; IMP:MGI.
GO; GO:0060325; P:face morphogenesis; IMP:MGI.
GO; GO:0007507; P:heart development; IMP:UniProtKB.
GO; GO:0003007; P:heart morphogenesis; IMP:MGI.
GO; GO:0042472; P:inner ear morphogenesis; IMP:MGI.
GO; GO:0001945; P:lymph vessel development; IMP:MGI.
GO; GO:0097152; P:mesenchymal cell apoptotic process; IMP:UniProtKB.
GO; GO:0007498; P:mesoderm development; IMP:MGI.
GO; GO:0042474; P:middle ear morphogenesis; IMP:MGI.
GO; GO:0042693; P:muscle cell fate commitment; IMP:MGI.
GO; GO:0007517; P:muscle organ development; IMP:MGI.
GO; GO:0048644; P:muscle organ morphogenesis; IGI:MGI.
GO; GO:0060415; P:muscle tissue morphogenesis; IMP:MGI.
GO; GO:0045596; P:negative regulation of cell differentiation; IMP:MGI.
GO; GO:2001054; P:negative regulation of mesenchymal cell apoptotic process; IGI:UniProtKB.
GO; GO:0000122; P:negative regulation of transcription from RNA polymerase II promoter; IMP:BHF-UCL.
GO; GO:0001755; P:neural crest cell migration; IMP:MGI.
GO; GO:0042475; P:odontogenesis of dentin-containing tooth; IMP:MGI.
GO; GO:0071600; P:otic vesicle morphogenesis; IMP:MGI.
GO; GO:0042473; P:outer ear morphogenesis; IMP:MGI.
GO; GO:0003151; P:outflow tract morphogenesis; IMP:MGI.
GO; GO:0003148; P:outflow tract septum morphogenesis; IMP:UniProtKB.
GO; GO:0060017; P:parathyroid gland development; ISS:UniProtKB.
GO; GO:0007389; P:pattern specification process; IMP:MGI.
GO; GO:0060037; P:pharyngeal system development; IMP:UniProtKB.
GO; GO:0008284; P:positive regulation of cell proliferation; IMP:MGI.
GO; GO:0050679; P:positive regulation of epithelial cell proliferation; IMP:UniProtKB.
GO; GO:0043410; P:positive regulation of MAPK cascade; IMP:UniProtKB.
GO; GO:0002053; P:positive regulation of mesenchymal cell proliferation; IMP:UniProtKB.
GO; GO:0001934; P:positive regulation of protein phosphorylation; IMP:UniProtKB.
GO; GO:0072513; P:positive regulation of secondary heart field cardioblast proliferation; IDA:MGI.
GO; GO:2001037; P:positive regulation of tongue muscle cell differentiation; IMP:UniProtKB.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IDA:UniProtKB.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:MGI.
GO; GO:2000027; P:regulation of organ morphogenesis; IMP:MGI.
GO; GO:0006357; P:regulation of transcription from RNA polymerase II promoter; IGI:MGI.
GO; GO:0048384; P:retinoic acid receptor signaling pathway; IMP:UniProtKB.
GO; GO:0048752; P:semicircular canal morphogenesis; IGI:MGI.
GO; GO:0007605; P:sensory perception of sound; IMP:MGI.
GO; GO:0035176; P:social behavior; IMP:MGI.
GO; GO:0060023; P:soft palate development; ISS:UniProtKB.
GO; GO:0048538; P:thymus development; IMP:MGI.
GO; GO:0030878; P:thyroid gland development; IMP:MGI.
GO; GO:0043587; P:tongue morphogenesis; IMP:UniProtKB.
GO; GO:0021644; P:vagus nerve morphogenesis; IMP:MGI.
CDD; cd00182; TBOX; 1.
Gene3D; 2.60.40.820; -; 1.
InterPro; IPR008967; p53-like_TF_DNA-bd.
InterPro; IPR036960; T-box_sf.
InterPro; IPR001699; TF_T-box.
InterPro; IPR018186; TF_T-box_CS.
PANTHER; PTHR11267; PTHR11267; 1.
Pfam; PF00907; T-box; 1.
PRINTS; PR00937; TBOX.
SMART; SM00425; TBOX; 1.
SUPFAM; SSF49417; SSF49417; 1.
PROSITE; PS01283; TBOX_1; 1.
PROSITE; PS01264; TBOX_2; 1.
PROSITE; PS50252; TBOX_3; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Developmental protein;
DNA-binding; Nucleus; Reference proteome; Transcription;
Transcription regulation.
CHAIN 1 479 T-box transcription factor TBX1.
/FTId=PRO_0000184424.
DNA_BIND 108 286 T-box. {ECO:0000255|PROSITE-
ProRule:PRU00201}.
COMPBIAS 24 65 Pro-rich.
COMPBIAS 429 446 His-rich.
COMPBIAS 448 473 Ala-rich.
VAR_SEQ 1 11 MHFSTVTRDME -> MISAVSSPWLTQLSHFCDVA (in
isoform 2). {ECO:0000305}.
/FTId=VSP_016760.
CONFLICT 174 174 A -> R (in Ref. 3; AAC53106).
{ECO:0000305}.
CONFLICT 183 184 HY -> YI (in Ref. 4; AAC52696).
{ECO:0000305}.
CONFLICT 217 217 Q -> H (in Ref. 2; AAG61088, 3; AAC53106
and 4; AAC52696). {ECO:0000305}.
CONFLICT 236 236 D -> A (in Ref. 3; AAC53106 and 4;
AAC52696). {ECO:0000305}.
CONFLICT 245 245 A -> E (in Ref. 3; AAC53106 and 4;
AAC52696). {ECO:0000305}.
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


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