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P70323

- TBX1_MOUSE

UniProt

P70323 - TBX1_MOUSE

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Protein

T-box transcription factor TBX1

Gene

Tbx1

Organism
Mus musculus (Mouse)
Status
Reviewed - 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

  1. protein homodimerization activity Source: UniProtKB
  2. sequence-specific DNA binding Source: UniProtKB
  3. sequence-specific DNA binding transcription factor activity Source: InterPro

GO - Biological processi

  1. angiogenesis Source: MGI
  2. anterior/posterior pattern specification Source: MGI
  3. aorta morphogenesis Source: MGI
  4. artery morphogenesis Source: MGI
  5. blood vessel development Source: MGI
  6. blood vessel morphogenesis Source: MGI
  7. blood vessel remodeling Source: MGI
  8. cell fate specification Source: MGI
  9. cell proliferation Source: MGI
  10. cellular response to fibroblast growth factor stimulus Source: UniProtKB
  11. cellular response to retinoic acid Source: UniProtKB
  12. cochlea morphogenesis Source: UniProtKB
  13. coronary artery morphogenesis Source: DFLAT
  14. determination of left/right symmetry Source: MGI
  15. ear morphogenesis Source: MGI
  16. embryonic cranial skeleton morphogenesis Source: MGI
  17. embryonic viscerocranium morphogenesis Source: UniProtKB
  18. enamel mineralization Source: MGI
  19. epithelial cell differentiation Source: MGI
  20. face morphogenesis Source: MGI
  21. heart development Source: UniProtKB
  22. heart morphogenesis Source: MGI
  23. inner ear morphogenesis Source: MGI
  24. lymph vessel development Source: MGI
  25. mesenchymal cell apoptotic process Source: UniProtKB
  26. mesoderm development Source: MGI
  27. middle ear morphogenesis Source: MGI
  28. muscle cell fate commitment Source: MGI
  29. muscle organ development Source: MGI
  30. muscle organ morphogenesis Source: MGI
  31. muscle tissue morphogenesis Source: MGI
  32. negative regulation of cell differentiation Source: MGI
  33. negative regulation of mesenchymal cell apoptotic process Source: UniProtKB
  34. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  35. neural crest cell migration Source: MGI
  36. odontogenesis of dentin-containing tooth Source: MGI
  37. otic vesicle morphogenesis Source: MGI
  38. outer ear morphogenesis Source: MGI
  39. outflow tract morphogenesis Source: MGI
  40. outflow tract septum morphogenesis Source: UniProtKB
  41. parathyroid gland development Source: UniProtKB
  42. patterning of blood vessels Source: DFLAT
  43. pattern specification process Source: MGI
  44. pharyngeal system development Source: UniProtKB
  45. positive regulation of cell proliferation Source: MGI
  46. positive regulation of epithelial cell proliferation Source: UniProtKB
  47. positive regulation of MAPK cascade Source: UniProtKB
  48. positive regulation of mesenchymal cell proliferation Source: UniProtKB
  49. positive regulation of protein phosphorylation Source: UniProtKB
  50. positive regulation of secondary heart field cardioblast proliferation Source: MGI
  51. positive regulation of tongue muscle cell differentiation Source: UniProtKB
  52. positive regulation of transcription, DNA-templated Source: MGI
  53. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  54. regulation of organ morphogenesis Source: MGI
  55. regulation of transcription from RNA polymerase II promoter Source: MGI
  56. retinoic acid receptor signaling pathway Source: UniProtKB
  57. semicircular canal morphogenesis Source: MGI
  58. sensory perception of sound Source: MGI
  59. social behavior Source: MGI
  60. soft palate development Source: UniProtKB
  61. thymus development Source: UniProtKB
  62. thyroid gland development Source: MGI
  63. tongue morphogenesis Source: UniProtKB
  64. transcription, DNA-templated Source: UniProtKB-KW
  65. 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: Unplaced

Organism-specific databases

MGIiMGI:98493. Tbx1.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. 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. Align

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:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
Links Updated
AF349658 mRNA. Translation: AAK14407.1 .
AF326960 mRNA. Translation: AAG61088.1 .
U57327 mRNA. Translation: AAC53106.1 .
U15565 mRNA. Translation: AAC52696.1 .
CCDSi CCDS28023.1. [P70323-2 ]
RefSeqi NP_035662.1. NM_011532.2.
UniGenei Mm.295194.

3D structure databases

ProteinModelPortali P70323.
SMRi P70323. Positions 99-286.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 203984. 5 interactions.
STRINGi 10090.ENSMUSP00000009241.

PTM databases

PhosphoSitei P70323.

Proteomic databases

PRIDEi P70323.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 21380.
KEGGi mmu:21380.

Organism-specific databases

CTDi 6899.
MGIi MGI:98493. Tbx1.

Phylogenomic databases

eggNOGi NOG272513.
HOGENOMi HOG000286000.
HOVERGENi HBG014448.
InParanoidi P70323.
KOi K10175.
PhylomeDBi P70323.

Miscellaneous databases

NextBioi 300612.
PROi P70323.
SOURCEi Search...

Gene expression databases

CleanExi MM_TBX1.
Genevestigatori P70323.

Family and domain databases

Gene3Di 2.60.40.820. 1 hit.
InterProi IPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view ]
PANTHERi PTHR11267. PTHR11267. 1 hit.
Pfami PF00907. T-box. 1 hit.
[Graphical view ]
PRINTSi PR00937. TBOX.
SMARTi SM00425. TBOX. 1 hit.
[Graphical view ]
SUPFAMi SSF49417. SSF49417. 1 hit.
PROSITEi PS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: October 29, 2014
This is version 129 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