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P70323 (TBX1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 127. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
T-box transcription factor TBX1

Short name=T-box protein 1
Alternative name(s):
Testis-specific T-box protein
Gene names
Name:Tbx1
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length479 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries. Ref.1 Ref.2

Subunit structure

Interacts with DSCR6. Ref.6

Subcellular location

Nucleus Potential.

Tissue specificity

Expressed in skeletal muscle, lung and testis. Ref.1

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. Ref.5 Ref.6

Sequence similarities

Contains 1 T-box DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processangiogenesis

Inferred from mutant phenotype PubMed 11971873. Source: MGI

anterior/posterior pattern specification

Inferred from mutant phenotype PubMed 15084464. Source: MGI

aorta morphogenesis

Inferred from mutant phenotype PubMed 17916582. Source: MGI

artery morphogenesis

Inferred from mutant phenotype PubMed 11242110. Source: MGI

blood vessel development

Inferred from mutant phenotype Ref.2PubMed 16284121. Source: MGI

blood vessel morphogenesis

Inferred from mutant phenotype PubMed 11239417. Source: MGI

blood vessel remodeling

Inferred from genetic interaction PubMed 17000704. Source: MGI

cell fate specification

Inferred from mutant phenotype PubMed 15084464. Source: MGI

cell proliferation

Inferred from direct assay PubMed 16914493. Source: MGI

cellular response to fibroblast growth factor stimulus

Inferred from mutant phenotype PubMed 20807544. Source: UniProtKB

cellular response to retinoic acid

Inferred from expression pattern PubMed 18816858. Source: UniProtKB

cochlea morphogenesis

Inferred from genetic interaction PubMed 18231833. Source: UniProtKB

coronary artery morphogenesis

Traceable author statement PubMed 20299672. Source: DFLAT

determination of left/right symmetry

Inferred from mutant phenotype PubMed 16556915. Source: MGI

ear morphogenesis

Inferred from mutant phenotype PubMed 15190012. Source: MGI

embryonic cranial skeleton morphogenesis

Inferred from mutant phenotype PubMed 15190012. Source: MGI

embryonic viscerocranium morphogenesis

Inferred from sequence or structural similarity PubMed 9268629. Source: UniProtKB

enamel mineralization

Inferred from mutant phenotype PubMed 19233155. Source: MGI

epithelial cell differentiation

Inferred from mutant phenotype PubMed 19233155PubMed 20816801. Source: MGI

face morphogenesis

Inferred from mutant phenotype PubMed 20501333. Source: MGI

heart development

Inferred from mutant phenotype Ref.6. Source: UniProtKB

heart morphogenesis

Inferred from mutant phenotype PubMed 15175244PubMed 15190012PubMed 16696966PubMed 16914493. Source: MGI

inner ear morphogenesis

Inferred from mutant phenotype PubMed 12913075PubMed 15084464PubMed 15652707PubMed 16600992. Source: MGI

lymph vessel development

Inferred from mutant phenotype PubMed 20439995. Source: MGI

mesenchymal cell apoptotic process

Inferred from mutant phenotype PubMed 18231833. Source: UniProtKB

mesoderm development

Inferred from mutant phenotype PubMed 11242110. Source: MGI

middle ear morphogenesis

Inferred from mutant phenotype PubMed 15652707PubMed 16600992PubMed 20501333. Source: MGI

muscle cell fate commitment

Inferred from mutant phenotype PubMed 18816853. Source: MGI

muscle organ development

Inferred from mutant phenotype PubMed 15385444. Source: MGI

muscle organ morphogenesis

Inferred from genetic interaction PubMed 19531352. Source: MGI

muscle tissue morphogenesis

Inferred from mutant phenotype PubMed 19531352. Source: MGI

negative regulation of cell differentiation

Inferred from mutant phenotype PubMed 19745164. Source: MGI

negative regulation of mesenchymal cell apoptotic process

Inferred from genetic interaction PubMed 18231833. Source: UniProtKB

negative regulation of transcription from RNA polymerase II promoter

Inferred from mutant phenotype PubMed 20122914. Source: BHF-UCL

neural crest cell migration

Inferred from mutant phenotype PubMed 15652707PubMed 20501333. Source: MGI

odontogenesis of dentin-containing tooth

Inferred from mutant phenotype PubMed 19233155PubMed 20816801. Source: MGI

otic vesicle morphogenesis

Inferred from mutant phenotype PubMed 17074316. Source: MGI

outer ear morphogenesis

Inferred from mutant phenotype PubMed 16600992. Source: MGI

outflow tract morphogenesis

Inferred from mutant phenotype PubMed 17916582PubMed 18583714. Source: MGI

outflow tract septum morphogenesis

Inferred from mutant phenotype PubMed 20807544. Source: UniProtKB

parathyroid gland development

Inferred from sequence or structural similarity PubMed 9268629. Source: UniProtKB

pattern specification process

Inferred from mutant phenotype PubMed 15385444PubMed 15652707. Source: MGI

patterning of blood vessels

Traceable author statement PubMed 20299672. Source: DFLAT

pharyngeal system development

Inferred from mutant phenotype Ref.6. Source: UniProtKB

positive regulation of MAPK cascade

Inferred from mutant phenotype PubMed 20807544. Source: UniProtKB

positive regulation of cell proliferation

Inferred from mutant phenotype PubMed 16141220. Source: MGI

positive regulation of epithelial cell proliferation

Inferred from mutant phenotype PubMed 18231833. Source: UniProtKB

positive regulation of mesenchymal cell proliferation

Inferred from mutant phenotype PubMed 18231833. Source: UniProtKB

positive regulation of protein phosphorylation

Inferred from mutant phenotype PubMed 20807544. Source: UniProtKB

positive regulation of secondary heart field cardioblast proliferation

Inferred from direct assay PubMed 19745164. Source: MGI

positive regulation of tongue muscle cell differentiation

Inferred from mutant phenotype PubMed 18816858. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay Ref.6. Source: UniProtKB

positive regulation of transcription, DNA-templated

Inferred from direct assay PubMed 15175244PubMed 15703190PubMed 15843409PubMed 16684884. Source: MGI

regulation of organ morphogenesis

Inferred from mutant phenotype PubMed 17164259PubMed 19389367. Source: MGI

regulation of transcription from RNA polymerase II promoter

Inferred from genetic interaction PubMed 20816801. Source: MGI

retinoic acid receptor signaling pathway

Inferred from mutant phenotype PubMed 18816858. Source: UniProtKB

semicircular canal morphogenesis

Inferred from genetic interaction PubMed 19855134. Source: MGI

sensory perception of sound

Inferred from mutant phenotype PubMed 15190012PubMed 16600992. Source: MGI

social behavior

Inferred from mutant phenotype PubMed 16684884. Source: MGI

soft palate development

Inferred from sequence or structural similarity PubMed 9268629. Source: UniProtKB

thymus development

Inferred from sequence or structural similarity PubMed 9268629. Source: UniProtKB

thyroid gland development

Inferred from mutant phenotype PubMed 15190012PubMed 17164259PubMed 19389367. Source: MGI

tongue morphogenesis

Inferred from mutant phenotype PubMed 18816858. Source: UniProtKB

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

vagus nerve morphogenesis

Inferred from mutant phenotype PubMed 20939858. Source: MGI

   Cellular_componentnucleus

Inferred from sequence or structural similarity PubMed 9268629. Source: UniProtKB

   Molecular_functionprotein binding

Inferred from physical interaction Ref.6. Source: UniProtKB

protein homodimerization activity

Inferred from sequence or structural similarity PubMed 9268629. Source: UniProtKB

sequence-specific DNA binding

Inferred from sequence or structural similarity PubMed 9268629. Source: UniProtKB

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P70323-1)

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.
Isoform 2 (identifier: P70323-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 479479T-box transcription factor TBX1
PRO_0000184424

Regions

DNA binding108 – 286179T-box
Compositional bias24 – 6542Pro-rich
Compositional bias429 – 44618His-rich
Compositional bias448 – 47326Ala-rich

Natural variations

Alternative sequence1 – 1111MHFSTVTRDME → MISAVSSPWLTQLSHFCDVA in isoform 2.
VSP_016760

Experimental info

Sequence conflict1741A → R in AAC53106. Ref.3
Sequence conflict183 – 1842HY → YI in AAC52696. Ref.4
Sequence conflict2171Q → H in AAG61088. Ref.2
Sequence conflict2171Q → H in AAC53106. Ref.3
Sequence conflict2171Q → H in AAC52696. Ref.4
Sequence conflict2361D → A in AAC53106. Ref.3
Sequence conflict2361D → A in AAC52696. Ref.4
Sequence conflict2451A → E in AAC53106. Ref.3
Sequence conflict2451A → E in AAC52696. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 20, 2005. Version 2.
Checksum: F6FE34621B2E7164

FASTA47951,668
        10         20         30         40         50         60 
MHFSTVTRDM EAFAASSLSG LGSPSPGADP FGPREPPPPR YDPCAAVPGA PGPPPPRAYP 

        70         80         90        100        110        120 
FAPAPGAAGS SAAESEGPGA SRAAAVKAPV KKNPKVASVS VQLEMKALWD EFNQLGTEMI 

       130        140        150        160        170        180 
VTKAGRRMFP TFQVKLFGMD PMADYMLLMD FVPVDDKRYR YAFHSSSWLV AGKADPATPG 

       190        200        210        220        230        240 
RVHYHPDSPA KGAQWMKQIV SFDKLKLTNN LLDDNGQIIL NSMHRYQPRF HVVYVDPRKD 

       250        260        270        280        290        300 
SEKYAEENFK TFVFEETRFT AVTAYQNHRI TQLKIASNPF AKGFRDCDPE DWPRNHRPGA 

       310        320        330        340        350        360 
LPLVSAFARS RNPVASPTQP NGSDKDAAEA RREFDRDSGP AALGDATHPP QLLARVLSPA 

       370        380        390        400        410        420 
LPGPGGLVPL PGGSGGRHSP PHADLRLEAP GASEPLHHHP YKYPAAAYDH YLGAKSRPAP 

       430        440        450        460        470 
YPLPGLRGHG YHPHAHPHAH PHHHHHPAVN PAAAAAAAAA ANVYSSAAAP PGAYDYCPR 

« Hide

Isoform 2 [UniParc].

Checksum: 388E8A2BB826308C
Show »

FASTA48852,507

References

[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]"Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development."
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.
Dev. Dyn. 206:379-390(1996) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF349658 mRNA. Translation: AAK14407.1.
AF326960 mRNA. Translation: AAG61088.1.
U57327 mRNA. Translation: AAC53106.1.
U15565 mRNA. Translation: AAC52696.1.
CCDSCCDS28023.1. [P70323-2]
RefSeqNP_035662.1. NM_011532.2.
UniGeneMm.295194.

3D structure databases

ProteinModelPortalP70323.
SMRP70323. Positions 99-286.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid203984. 5 interactions.
STRING10090.ENSMUSP00000009241.

PTM databases

PhosphoSiteP70323.

Proteomic databases

PRIDEP70323.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

GeneID21380.
KEGGmmu:21380.

Organism-specific databases

CTD6899.
MGIMGI:98493. Tbx1.

Phylogenomic databases

eggNOGNOG272513.
HOGENOMHOG000286000.
HOVERGENHBG014448.
KOK10175.
PhylomeDBP70323.

Gene expression databases

CleanExMM_TBX1.
GenevestigatorP70323.

Family and domain databases

Gene3D2.60.40.820. 1 hit.
InterProIPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERPTHR11267. PTHR11267. 1 hit.
PfamPF00907. T-box. 1 hit.
[Graphical view]
PRINTSPR00937. TBOX.
SMARTSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMSSF49417. SSF49417. 1 hit.
PROSITEPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio300612.
PROP70323.
SOURCESearch...

Entry information

Entry nameTBX1_MOUSE
AccessionPrimary (citable) accession number: P70323
Secondary accession number(s): Q60706, Q99MP0, Q99P22
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 20, 2005
Last modified: July 9, 2014
This is version 127 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot