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P70323

- TBX1_MOUSE

UniProt

P70323 - TBX1_MOUSE

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
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    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 2 (20 Dec 2005)
      Previous versions | rss
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    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 binding Source: UniProtKB
    2. protein homodimerization activity Source: UniProtKB
    3. sequence-specific DNA binding Source: UniProtKB
    4. 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

    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

    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.
    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

    MHFSTVTRDM EAFAASSLSG LGSPSPGADP FGPREPPPPR YDPCAAVPGA    50
    PGPPPPRAYP FAPAPGAAGS SAAESEGPGA SRAAAVKAPV KKNPKVASVS 100
    VQLEMKALWD EFNQLGTEMI VTKAGRRMFP TFQVKLFGMD PMADYMLLMD 150
    FVPVDDKRYR YAFHSSSWLV AGKADPATPG RVHYHPDSPA KGAQWMKQIV 200
    SFDKLKLTNN LLDDNGQIIL NSMHRYQPRF HVVYVDPRKD SEKYAEENFK 250
    TFVFEETRFT AVTAYQNHRI TQLKIASNPF AKGFRDCDPE DWPRNHRPGA 300
    LPLVSAFARS RNPVASPTQP NGSDKDAAEA RREFDRDSGP AALGDATHPP 350
    QLLARVLSPA LPGPGGLVPL PGGSGGRHSP PHADLRLEAP GASEPLHHHP 400
    YKYPAAAYDH YLGAKSRPAP YPLPGLRGHG YHPHAHPHAH PHHHHHPAVN 450
    PAAAAAAAAA ANVYSSAAAP PGAYDYCPR 479
    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.
    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 1, 2014
    This is version 128 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