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O15119

- TBX3_HUMAN

UniProt

O15119 - TBX3_HUMAN

Protein

T-box transcription factor TBX3

Gene

TBX3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 155 (01 Oct 2014)
      Sequence version 4 (12 Feb 2003)
      Previous versions | rss
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    Functioni

    Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence.2 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi107 – 220114T-box; first partPROSITE-ProRule annotationAdd
    BLAST
    DNA bindingi241 – 30565T-box; second partPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. RNA polymerase II activating transcription factor binding Source: BHF-UCL
    3. RNA polymerase II transcription factor binding Source: BHF-UCL
    4. sequence-specific DNA binding Source: UniProtKB
    5. sequence-specific DNA binding transcription factor activity Source: Ensembl

    GO - Biological processi

    1. anterior/posterior axis specification, embryo Source: UniProtKB
    2. atrioventricular bundle cell differentiation Source: Ensembl
    3. blood vessel development Source: Ensembl
    4. branching involved in mammary gland duct morphogenesis Source: Ensembl
    5. cardiac muscle cell fate commitment Source: Ensembl
    6. cell aging Source: UniProtKB
    7. cellular senescence Source: UniProtKB
    8. embryonic digit morphogenesis Source: UniProtKB
    9. embryonic forelimb morphogenesis Source: UniProtKB
    10. female genitalia development Source: UniProtKB
    11. follicle-stimulating hormone secretion Source: UniProtKB
    12. forelimb morphogenesis Source: MGI
    13. heart looping Source: Ensembl
    14. in utero embryonic development Source: Ensembl
    15. limbic system development Source: Ensembl
    16. luteinizing hormone secretion Source: UniProtKB
    17. male genitalia development Source: UniProtKB
    18. mammary gland development Source: UniProtKB
    19. mammary placode formation Source: Ensembl
    20. mesoderm morphogenesis Source: UniProtKB
    21. negative regulation of apoptotic process Source: UniProtKB
    22. negative regulation of epithelial cell differentiation Source: Ensembl
    23. negative regulation of myoblast differentiation Source: UniProtKB
    24. negative regulation of transcription, DNA-templated Source: UniProtKB
    25. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    26. organ morphogenesis Source: MGI
    27. outflow tract morphogenesis Source: Ensembl
    28. palate development Source: Ensembl
    29. positive regulation of cell cycle Source: UniProtKB
    30. positive regulation of cell proliferation Source: UniProtKB
    31. positive regulation of stem cell proliferation Source: Ensembl
    32. positive regulation of transcription, DNA-templated Source: Ensembl
    33. regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    34. sinoatrial node cell development Source: Ensembl
    35. skeletal system development Source: UniProtKB
    36. specification of organ position Source: Ensembl
    37. stem cell maintenance Source: Ensembl
    38. transcription, DNA-templated Source: UniProtKB-KW
    39. ventricular septum morphogenesis Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein, Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    T-box transcription factor TBX3
    Short name:
    T-box protein 3
    Gene namesi
    Name:TBX3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:11602. TBX3.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Ulnar-mammary syndrome (UMS) [MIM:181450]: Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti143 – 1431L → P in UMS. 1 Publication
    VAR_009601
    Natural varianti149 – 1491Y → S in UMS. 1 Publication
    VAR_009602

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi181450. phenotype.
    Orphaneti3138. Ulnar-mammary syndrome.
    PharmGKBiPA36365.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 743743T-box transcription factor TBX3PRO_0000184428Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei371 – 3711Phosphoserine1 Publication
    Modified residuei432 – 4321Phosphoserine1 Publication
    Modified residuei438 – 4381Phosphoserine1 Publication
    Modified residuei707 – 7071Phosphoserine1 Publication
    Modified residuei738 – 7381Phosphoserine1 Publication
    Modified residuei740 – 7401Phosphoserine1 Publication
    Modified residuei742 – 7421Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiO15119.
    PaxDbiO15119.
    PRIDEiO15119.

    PTM databases

    PhosphoSiteiO15119.

    Expressioni

    Tissue specificityi

    Widely expressed.

    Gene expression databases

    BgeeiO15119.
    CleanExiHS_TBX3.
    GenevestigatoriO15119.

    Organism-specific databases

    HPAiHPA005799.

    Interactioni

    Subunit structurei

    Interacts with PML (isoform PML-4).1 Publication

    Protein-protein interaction databases

    BioGridi112788. 9 interactions.
    IntActiO15119. 2 interactions.
    MINTiMINT-7970169.
    STRINGi9606.ENSP00000257566.

    Structurei

    Secondary structure

    1
    743
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi104 – 1074
    Helixi110 – 11910
    Beta strandi122 – 1243
    Beta strandi137 – 1426
    Beta strandi145 – 16622
    Beta strandi169 – 1757
    Beta strandi191 – 1933
    Helixi194 – 1974
    Beta strandi246 – 25510
    Helixi260 – 2656
    Beta strandi269 – 2724
    Helixi274 – 2763
    Beta strandi278 – 2836
    Helixi287 – 29610
    Helixi298 – 3036

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1H6FX-ray1.70A/B101-311[»]
    ProteinModelPortaliO15119.
    SMRiO15119. Positions 100-305.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO15119.

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni544 – 695152Transcription repressionAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG240293.
    HOGENOMiHOG000038046.
    HOVERGENiHBG000412.
    InParanoidiO15119.
    KOiK10177.
    OMAiPSQFAMG.
    OrthoDBiEOG7W9RV1.
    PhylomeDBiO15119.
    TreeFamiTF106341.

    Family and domain databases

    Gene3Di2.60.40.820. 1 hit.
    InterProiIPR008967. p53-like_TF_DNA-bd.
    IPR022582. TBX.
    IPR001699. TF_T-box.
    IPR018186. TF_T-box_CS.
    [Graphical view]
    PANTHERiPTHR11267. PTHR11267. 1 hit.
    PfamiPF00907. T-box. 1 hit.
    PF12598. TBX. 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 (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform II (identifier: O15119-1) [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

    MSLSMRDPVI PGTSMAYHPF LPHRAPDFAM SAVLGHQPPF FPALTLPPNG    50
    AAALSLPGAL AKPIMDQLVG AAETGIPFSS LGPQAHLRPL KTMEPEEEVE 100
    DDPKVHLEAK ELWDQFHKRG TEMVITKSGR RMFPPFKVRC SGLDKKAKYI 150
    LLMDIIAADD CRYKFHNSRW MVAGKADPEM PKRMYIHPDS PATGEQWMSK 200
    VVTFHKLKLT NNISDKHGFT LAFPSDHATW QGNYSFGTQT ILNSMHKYQP 250
    RFHIVRANDI LKLPYSTFRT YLFPETEFIA VTAYQNDKIT QLKIDNNPFA 300
    KGFRDTGNGR REKRKQLTLQ SMRVFDERHK KENGTSDESS SEQAAFNCFA 350
    QASSPAASTV GTSNLKDLCP SEGESDAEAE SKEEHGPEAC DAAKISTTTS 400
    EEPCRDKGSP AVKAHLFAAE RPRDSGRLDK ASPDSRHSPA TISSSTRGLG 450
    AEERRSPVRE GTAPAKVEEA RALPGKEAFA PLTVQTDAAA AHLAQGPLPG 500
    LGFAPGLAGQ QFFNGHPLFL HPSQFAMGGA FSSMAAAGMG PLLATVSGAS 550
    TGVSGLDSTA MASAAAAQGL SGASAATLPF HLQQHVLASQ GLAMSPFGSL 600
    FPYPYTYMAA AAAASSAAAS SSVHRHPFLN LNTMRPRLRY SPYSIPVPVP 650
    DGSSLLTTAL PSMAAAAGPL DGKVAALAAS PASVAVDSGS ELNSRSSTLS 700
    SSSMSLSPKL CAEKEAATSE LQSIQRLVSG LEAKPDRSRS ASP 743

    Note: Contains an interrupted T-box domain.

    Length:743
    Mass (Da):79,389
    Last modified:February 12, 2003 - v4
    Checksum:iD5572F9CF871E89F
    GO
    Isoform I (identifier: O15119-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         221-240: Missing.

    Show »
    Length:723
    Mass (Da):77,178
    Checksum:i08A64D15A005F0CF
    GO
    Isoform III (identifier: O15119-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         490-615: Missing.
         661-677: Missing.

    Note: Contains an interrupted T-box domain.

    Show »
    Length:600
    Mass (Da):65,604
    Checksum:iFCCF7491391BE8DA
    GO
    Isoform IV (identifier: O15119-4)

    Sequence is not available

    Note: May be produced by joining exon 1 to exon 7 thereby eliminating the T-box.

    Length:
    Mass (Da):

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti315 – 3151K → Q in AAF61207. 1 PublicationCurated
    Sequence conflicti616 – 62813SAAAS…HRHPF → LRQPQLRCTAPL(PubMed:10468588)CuratedAdd
    BLAST
    Sequence conflicti674 – 6741V → A in AAD50989. (PubMed:10468588)Curated
    Sequence conflicti692 – 6921L → P in AAD50989. (PubMed:10468588)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti143 – 1431L → P in UMS. 1 Publication
    VAR_009601
    Natural varianti149 – 1491Y → S in UMS. 1 Publication
    VAR_009602

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei221 – 24020Missing in isoform I. 2 PublicationsVSP_006384Add
    BLAST
    Alternative sequencei490 – 615126Missing in isoform III. 1 PublicationVSP_006385Add
    BLAST
    Alternative sequencei661 – 67717Missing in isoform III. 1 PublicationVSP_006386Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF170708 mRNA. Translation: AAD50989.2.
    AF002228 mRNA. Translation: AAC12947.1.
    AF140240 mRNA. Translation: AAF61816.1.
    AF216750 mRNA. Translation: AAF61207.1.
    BC025258 mRNA. Translation: AAH25258.1.
    CCDSiCCDS9175.1. [O15119-2]
    CCDS9176.1. [O15119-1]
    RefSeqiNP_005987.3. NM_005996.3. [O15119-2]
    NP_057653.3. NM_016569.3. [O15119-1]
    UniGeneiHs.744016.

    Genome annotation databases

    EnsembliENST00000257566; ENSP00000257566; ENSG00000135111. [O15119-1]
    ENST00000349155; ENSP00000257567; ENSG00000135111. [O15119-2]
    GeneIDi6926.
    KEGGihsa:6926.
    UCSCiuc001tvt.1. human. [O15119-1]
    uc001tvu.1. human. [O15119-2]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF170708 mRNA. Translation: AAD50989.2 .
    AF002228 mRNA. Translation: AAC12947.1 .
    AF140240 mRNA. Translation: AAF61816.1 .
    AF216750 mRNA. Translation: AAF61207.1 .
    BC025258 mRNA. Translation: AAH25258.1 .
    CCDSi CCDS9175.1. [O15119-2 ]
    CCDS9176.1. [O15119-1 ]
    RefSeqi NP_005987.3. NM_005996.3. [O15119-2 ]
    NP_057653.3. NM_016569.3. [O15119-1 ]
    UniGenei Hs.744016.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1H6F X-ray 1.70 A/B 101-311 [» ]
    ProteinModelPortali O15119.
    SMRi O15119. Positions 100-305.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112788. 9 interactions.
    IntActi O15119. 2 interactions.
    MINTi MINT-7970169.
    STRINGi 9606.ENSP00000257566.

    PTM databases

    PhosphoSitei O15119.

    Proteomic databases

    MaxQBi O15119.
    PaxDbi O15119.
    PRIDEi O15119.

    Protocols and materials databases

    DNASUi 6926.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000257566 ; ENSP00000257566 ; ENSG00000135111 . [O15119-1 ]
    ENST00000349155 ; ENSP00000257567 ; ENSG00000135111 . [O15119-2 ]
    GeneIDi 6926.
    KEGGi hsa:6926.
    UCSCi uc001tvt.1. human. [O15119-1 ]
    uc001tvu.1. human. [O15119-2 ]

    Organism-specific databases

    CTDi 6926.
    GeneCardsi GC12M115108.
    HGNCi HGNC:11602. TBX3.
    HPAi HPA005799.
    MIMi 181450. phenotype.
    601621. gene.
    neXtProti NX_O15119.
    Orphaneti 3138. Ulnar-mammary syndrome.
    PharmGKBi PA36365.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG240293.
    HOGENOMi HOG000038046.
    HOVERGENi HBG000412.
    InParanoidi O15119.
    KOi K10177.
    OMAi PSQFAMG.
    OrthoDBi EOG7W9RV1.
    PhylomeDBi O15119.
    TreeFami TF106341.

    Miscellaneous databases

    ChiTaRSi TBX3. human.
    EvolutionaryTracei O15119.
    GeneWikii TBX3.
    GenomeRNAii 6926.
    NextBioi 27099.
    PROi O15119.
    SOURCEi Search...

    Gene expression databases

    Bgeei O15119.
    CleanExi HS_TBX3.
    Genevestigatori O15119.

    Family and domain databases

    Gene3Di 2.60.40.820. 1 hit.
    InterProi IPR008967. p53-like_TF_DNA-bd.
    IPR022582. TBX.
    IPR001699. TF_T-box.
    IPR018186. TF_T-box_CS.
    [Graphical view ]
    PANTHERi PTHR11267. PTHR11267. 1 hit.
    Pfami PF00907. T-box. 1 hit.
    PF12598. TBX. 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. "Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome."
      He M.-L., Wen L., Campbell C.E., Wu J.Y., Rao Y.
      Proc. Natl. Acad. Sci. U.S.A. 96:10212-10217(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM I), FUNCTION.
      Tissue: Mammary carcinoma.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-488 (ISOFORM I).
      Tissue: Kidney.
    3. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 592-743, ALTERNATIVE SPLICING, VARIANTS UMS PRO-143 AND SER-149.
    4. "A novel gene expressed in human adrenal gland."
      Song H., Gao G., Peng Y., Ren S., Chen Z., Han Z.
      Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM III).
      Tissue: Adrenal gland.
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM II).
      Tissue: Brain.
    6. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
      Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
      J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-432 AND SER-438, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-371; SER-707; SER-738; SER-740 AND SER-742, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "Physical and functional interaction between PML and TBX2 in the establishment of cellular senescence."
      Martin N., Benhamed M., Nacerddine K., Demarque M.D., van Lohuizen M., Dejean A., Bischof O.
      EMBO J. 31:95-109(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH PML.
    10. "Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome."
      Coll M., Seidman J.G., Muller C.W.
      Structure 10:343-356(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 101-311.

    Entry informationi

    Entry nameiTBX3_HUMAN
    AccessioniPrimary (citable) accession number: O15119
    Secondary accession number(s): Q8TB20, Q9UKF8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: February 12, 2003
    Last modified: October 1, 2014
    This is version 155 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3