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Protein

T-box transcription factor TBX1

Gene

Tbx1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi108 – 286179T-boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

  • angiogenesis Source: MGI
  • anterior/posterior pattern specification Source: MGI
  • aorta morphogenesis Source: MGI
  • artery morphogenesis Source: MGI
  • blood vessel development Source: MGI
  • blood vessel morphogenesis Source: MGI
  • blood vessel remodeling Source: MGI
  • cell fate specification Source: MGI
  • cell proliferation Source: MGI
  • cellular response to fibroblast growth factor stimulus Source: UniProtKB
  • cellular response to retinoic acid Source: UniProtKB
  • cochlea morphogenesis Source: UniProtKB
  • coronary artery morphogenesis Source: DFLAT
  • determination of left/right symmetry Source: MGI
  • ear morphogenesis Source: MGI
  • embryonic cranial skeleton morphogenesis Source: MGI
  • embryonic viscerocranium morphogenesis Source: UniProtKB
  • enamel mineralization Source: MGI
  • epithelial cell differentiation Source: MGI
  • face morphogenesis Source: MGI
  • heart development Source: UniProtKB
  • heart morphogenesis Source: MGI
  • inner ear morphogenesis Source: MGI
  • lymph vessel development Source: MGI
  • mesenchymal cell apoptotic process Source: UniProtKB
  • mesoderm development Source: MGI
  • middle ear morphogenesis Source: MGI
  • muscle cell fate commitment Source: MGI
  • muscle organ development Source: MGI
  • muscle organ morphogenesis Source: MGI
  • muscle tissue morphogenesis Source: MGI
  • negative regulation of cell differentiation Source: MGI
  • negative regulation of mesenchymal cell apoptotic process Source: UniProtKB
  • negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • neural crest cell migration Source: MGI
  • odontogenesis of dentin-containing tooth Source: MGI
  • otic vesicle morphogenesis Source: MGI
  • outer ear morphogenesis Source: MGI
  • outflow tract morphogenesis Source: MGI
  • outflow tract septum morphogenesis Source: UniProtKB
  • parathyroid gland development Source: UniProtKB
  • patterning of blood vessels Source: DFLAT
  • pattern specification process Source: MGI
  • pharyngeal system development Source: UniProtKB
  • positive regulation of cell proliferation Source: MGI
  • positive regulation of epithelial cell proliferation Source: UniProtKB
  • positive regulation of MAPK cascade Source: UniProtKB
  • positive regulation of mesenchymal cell proliferation Source: UniProtKB
  • positive regulation of protein phosphorylation Source: UniProtKB
  • positive regulation of secondary heart field cardioblast proliferation Source: MGI
  • positive regulation of tongue muscle cell differentiation Source: UniProtKB
  • positive regulation of transcription, DNA-templated Source: MGI
  • positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • regulation of organ morphogenesis Source: MGI
  • regulation of transcription from RNA polymerase II promoter Source: MGI
  • retinoic acid receptor signaling pathway Source: UniProtKB
  • semicircular canal morphogenesis Source: MGI
  • sensory perception of sound Source: MGI
  • social behavior Source: MGI
  • soft palate development Source: UniProtKB
  • thymus development Source: UniProtKB
  • thyroid gland development Source: MGI
  • tongue morphogenesis Source: UniProtKB
  • vagus nerve morphogenesis Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
T-box transcription factor TBX1
Short name:
T-box protein 1
Alternative name(s):
Testis-specific T-box protein
Gene namesi
Name:Tbx1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589 Componenti: Unplaced

Organism-specific databases

MGIiMGI:98493. Tbx1.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 479479T-box transcription factor TBX1PRO_0000184424Add
BLAST

Proteomic databases

PRIDEiP70323.

PTM databases

PhosphoSiteiP70323.

Expressioni

Tissue specificityi

Expressed in skeletal muscle, lung and testis.1 Publication

Developmental stagei

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.2 Publications

Gene expression databases

CleanExiMM_TBX1.
GenevestigatoriP70323.

Interactioni

Subunit structurei

Interacts with DSCR6.1 Publication

Protein-protein interaction databases

BioGridi203984. 5 interactions.
STRINGi10090.ENSMUSP00000009241.

Structurei

3D structure databases

ProteinModelPortaliP70323.
SMRiP70323. Positions 99-286.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi24 – 6542Pro-richAdd
BLAST
Compositional biasi429 – 44618His-richAdd
BLAST
Compositional biasi448 – 47326Ala-richAdd
BLAST

Sequence similaritiesi

Contains 1 T-box DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG272513.
HOGENOMiHOG000286000.
HOVERGENiHBG014448.
InParanoidiP70323.
KOiK10175.
PhylomeDBiP70323.

Family and domain databases

Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 1 hit.
[Graphical view]
PRINTSiPR00937. TBOX.
SMARTiSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMiSSF49417. SSF49417. 1 hit.
PROSITEiPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P70323-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MHFSTVTRDM EAFAASSLSG LGSPSPGADP FGPREPPPPR YDPCAAVPGA
60 70 80 90 100
PGPPPPRAYP FAPAPGAAGS SAAESEGPGA SRAAAVKAPV KKNPKVASVS
110 120 130 140 150
VQLEMKALWD EFNQLGTEMI VTKAGRRMFP TFQVKLFGMD PMADYMLLMD
160 170 180 190 200
FVPVDDKRYR YAFHSSSWLV AGKADPATPG RVHYHPDSPA KGAQWMKQIV
210 220 230 240 250
SFDKLKLTNN LLDDNGQIIL NSMHRYQPRF HVVYVDPRKD SEKYAEENFK
260 270 280 290 300
TFVFEETRFT AVTAYQNHRI TQLKIASNPF AKGFRDCDPE DWPRNHRPGA
310 320 330 340 350
LPLVSAFARS RNPVASPTQP NGSDKDAAEA RREFDRDSGP AALGDATHPP
360 370 380 390 400
QLLARVLSPA LPGPGGLVPL PGGSGGRHSP PHADLRLEAP GASEPLHHHP
410 420 430 440 450
YKYPAAAYDH YLGAKSRPAP YPLPGLRGHG YHPHAHPHAH PHHHHHPAVN
460 470
PAAAAAAAAA ANVYSSAAAP PGAYDYCPR
Length:479
Mass (Da):51,668
Last modified:December 20, 2005 - v2
Checksum:iF6FE34621B2E7164
GO
Isoform 2 (identifier: P70323-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MHFSTVTRDME → MISAVSSPWLTQLSHFCDVA

Show »
Length:488
Mass (Da):52,507
Checksum:i388E8A2BB826308C
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti174 – 1741A → R in AAC53106 (PubMed:8878690).Curated
Sequence conflicti183 – 1842HY → YI in AAC52696 (PubMed:7920656).Curated
Sequence conflicti217 – 2171Q → H in AAG61088 (PubMed:11242049).Curated
Sequence conflicti217 – 2171Q → H in AAC53106 (PubMed:8878690).Curated
Sequence conflicti217 – 2171Q → H in AAC52696 (PubMed:7920656).Curated
Sequence conflicti236 – 2361D → A in AAC53106 (PubMed:8878690).Curated
Sequence conflicti236 – 2361D → A in AAC52696 (PubMed:7920656).Curated
Sequence conflicti245 – 2451A → E in AAC53106 (PubMed:8878690).Curated
Sequence conflicti245 – 2451A → E in AAC52696 (PubMed:7920656).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1111MHFSTVTRDME → MISAVSSPWLTQLSHFCDVA in isoform 2. CuratedVSP_016760Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF349658 mRNA. Translation: AAK14407.1.
AF326960 mRNA. Translation: AAG61088.1.
U57327 mRNA. Translation: AAC53106.1.
U15565 mRNA. Translation: AAC52696.1.
CCDSiCCDS28023.1. [P70323-2]
RefSeqiNP_035662.1. NM_011532.2.
UniGeneiMm.295194.

Genome annotation databases

GeneIDi21380.
KEGGimmu:21380.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF349658 mRNA. Translation: AAK14407.1.
AF326960 mRNA. Translation: AAG61088.1.
U57327 mRNA. Translation: AAC53106.1.
U15565 mRNA. Translation: AAC52696.1.
CCDSiCCDS28023.1. [P70323-2]
RefSeqiNP_035662.1. NM_011532.2.
UniGeneiMm.295194.

3D structure databases

ProteinModelPortaliP70323.
SMRiP70323. Positions 99-286.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi203984. 5 interactions.
STRINGi10090.ENSMUSP00000009241.

PTM databases

PhosphoSiteiP70323.

Proteomic databases

PRIDEiP70323.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi21380.
KEGGimmu:21380.

Organism-specific databases

CTDi6899.
MGIiMGI:98493. Tbx1.

Phylogenomic databases

eggNOGiNOG272513.
HOGENOMiHOG000286000.
HOVERGENiHBG014448.
InParanoidiP70323.
KOiK10175.
PhylomeDBiP70323.

Miscellaneous databases

NextBioi300612.
PROiP70323.
SOURCEiSearch...

Gene expression databases

CleanExiMM_TBX1.
GenevestigatoriP70323.

Family and domain databases

Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 1 hit.
[Graphical view]
PRINTSiPR00937. TBOX.
SMARTiSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMiSSF49417. SSF49417. 1 hit.
PROSITEiPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development."
    Garg V., Yamagishi C., Hu T., Kathiriya I.S., Yamagishi H., Srivastava D.
    Dev. Biol. 235:62-73(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
    Strain: Swiss Webster / NIH.
  2. "Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice."
    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.
    Nature 410:97-101(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION (ISOFORM 2).
  3. "Evolution of mouse T-box genes by tandem duplication and cluster dispersion."
    Agulnik S.I., Garvey N., Hancock S., Ruvinsky I., Chapman D.L., Agulnik I., Bollag R.J., Papaioannou V.E., Silver L.M.
    Genetics 144:249-254(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 108-291 (ISOFORMS 1/2).
    Tissue: Embryo.
  4. "An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus."
    Bollag R.J., Siegfried Z., Cebra-Thomas J.A., Garvey N., Davison E.M., Silver L.M.
    Nat. Genet. 7:383-389(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 183-267 (ISOFORMS 1/2).
    Tissue: Embryo.
  5. Cited for: DEVELOPMENTAL STAGE.
  6. "Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice."
    Okubo T., Kawamura A., Takahashi J., Yagi H., Morishima M., Matsuoka R., Takada S.
    Development 138:339-348(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DSCR6, DEVELOPMENTAL STAGE.

Entry informationi

Entry nameiTBX1_MOUSE
AccessioniPrimary (citable) accession number: P70323
Secondary accession number(s): Q60706, Q99MP0, Q99P22
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 20, 2005
Last modified: February 4, 2015
This is version 131 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.