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Q9ES03

- TBX20_MOUSE

UniProt

Q9ES03 - TBX20_MOUSE

Protein

T-box transcription factor TBX20

Gene

Tbx20

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 3 (28 Nov 2006)
      Previous versions | rss
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    Functioni

    Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi108 – 287180T-boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: MGI
    2. RNA polymerase II activating transcription factor binding Source: BHF-UCL
    3. RNA polymerase II regulatory region sequence-specific DNA binding Source: BHF-UCL
    4. RNA polymerase II transcription coactivator activity Source: BHF-UCL
    5. RNA polymerase II transcription factor binding Source: BHF-UCL
    6. sequence-specific DNA binding transcription factor activity Source: MGI

    GO - Biological processi

    1. aortic valve development Source: BHF-UCL
    2. aortic valve morphogenesis Source: Ensembl
    3. atrial septum morphogenesis Source: Ensembl
    4. blood circulation Source: MGI
    5. cardiac chamber formation Source: BHF-UCL
    6. cardiac muscle tissue morphogenesis Source: BHF-UCL
    7. cardiac right ventricle morphogenesis Source: BHF-UCL
    8. cardiac septum development Source: BHF-UCL
    9. cell proliferation Source: MGI
    10. dorsal/ventral pattern formation Source: MGI
    11. embryonic heart tube development Source: MGI
    12. embryonic heart tube elongation Source: BHF-UCL
    13. embryonic heart tube morphogenesis Source: BHF-UCL
    14. endocardial cushion formation Source: BHF-UCL
    15. endocardial cushion morphogenesis Source: BHF-UCL
    16. foramen ovale closure Source: Ensembl
    17. heart looping Source: BHF-UCL
    18. muscle contraction Source: MGI
    19. negative regulation of SMAD protein complex assembly Source: MGI
    20. negative regulation of transcription, DNA-templated Source: BHF-UCL
    21. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    22. neuron migration Source: MGI
    23. outflow tract morphogenesis Source: BHF-UCL
    24. outflow tract septum morphogenesis Source: BHF-UCL
    25. patterning of blood vessels Source: MGI
    26. pericardium morphogenesis Source: BHF-UCL
    27. positive regulation of cardiac muscle cell proliferation Source: BHF-UCL
    28. positive regulation of transcription, DNA-templated Source: MGI
    29. positive regulation of transcription from RNA polymerase II promoter Source: GOC
    30. pulmonary valve formation Source: BHF-UCL
    31. pulmonary vein morphogenesis Source: Ensembl
    32. regulation of epithelial to mesenchymal transition Source: BHF-UCL
    33. tricuspid valve development Source: BHF-UCL
    34. visceral motor neuron differentiation Source: BHF-UCL

    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 TBX20
    Short name:
    T-box protein 20
    Gene namesi
    Name:Tbx20
    Synonyms:Tbx12
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 9

    Organism-specific databases

    MGIiMGI:1888496. Tbx20.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. cytoplasm Source: BHF-UCL
    2. nucleus Source: BHF-UCL

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Disruption phenotypei

    Embryos die at mid-gestation. The heart tube of deficient mices does not elongate, but anterior and secondary heart field markers are not affected.1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 445445T-box transcription factor TBX20PRO_0000184452Add
    BLAST

    Proteomic databases

    PRIDEiQ9ES03.

    Expressioni

    Tissue specificityi

    Prominently expressed in the extraembryonic mesoderm, developing heart, eye analage and motor neurons of hindbrain and spinal cord. Expressed in extraembryonic tissues such as the amnion and allantois.1 Publication

    Developmental stagei

    Between E7.25 and E8, expression detected in the extraembryonic mesoderm and contributes to amnion and chorion. Allantois expression persists until E10.5 and continues into the umbilical cord. Expression is found throughout heart development. At E7.5, detected in the cardiogenic mesoderm, at E8.0-8.5, found in the cardiac crescent and looping heart tube and from E9.5, found in the forming four-chambered heart. At all stages, expression is much stronger in the myocardium than in the endocardium and expression extends from the cardiogenic into the lateral plate mesoderm. From E10.5 on, weakly expressed in the periphery of the liver lobes, and in cells surrounding the aorta in the urogenital system. At E9.0, weakly expressed in the dorsal half of the optic vesicle. Later, expression spreads ventrally to enclose the entire neural retina at E11.5. At E9.0, expression is initiated in the hindbrain: first in the ventral region of rhombomere (r) 2 and 4, then in r7, r8 and in the cervical spinal cord. By E10.5, two ventral stripes of Tbx20 containing cells are continuous from r2 into the cervical spinal cord and expression is seen in two symmetrical patches of cell bodies in the mantle region of the ventral neural tube. At E11.5, expression follows the migration of motor neurons.1 Publication

    Gene expression databases

    BgeeiQ9ES03.
    CleanExiMM_TBX20.
    GenevestigatoriQ9ES03.

    Interactioni

    Protein-protein interaction databases

    BioGridi208216. 1 interaction.
    STRINGi10090.ENSMUSP00000052591.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9ES03.
    SMRiQ9ES03. Positions 99-287.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi68 – 725Poly-Gly
    Compositional biasi73 – 786Poly-Ser
    Compositional biasi349 – 3535Poly-Ser

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG272513.
    GeneTreeiENSGT00740000115189.
    HOGENOMiHOG000286000.
    HOVERGENiHBG067710.
    InParanoidiQ9ES03.
    KOiK10185.
    OMAiRHSSTVM.
    OrthoDBiEOG7GN2PM.
    PhylomeDBiQ9ES03.
    TreeFamiTF106341.

    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: Q9ES03-1) [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

    MEFTASPKPQ LSSRANAFSI AALMSSGGPK EKEAAENTIK PLEQFVEKSS    50
    CAQPLGELTS LDAHAEFGGG GGSPSSSSLC TEPLIPTTPI IPSEEMAKIA 100
    CSLETKELWD KFHELGTEMI ITKSGRRMFP TIRVSFSGVD PESKYIVLMD 150
    IVPVDNKRYR YAYHRSSWLV AGKADPPLPA RLYVHPDSPF TGEQLLKQMV 200
    SFEKVKLTNN ELDQHGHIIL NSMHKYQPRV HIIKKKDHTA SLLNLKSEEF 250
    RTFIFPETVF TAVTAYQNQL ITKLKIDSNP FAKGFRDSSR LTDIERESVE 300
    SLIQKHSYAR SPIRTYGEED VLGEESQTTQ SRGSAFTTSD NLSLSSWVSS 350
    SSSFPGFQHP QPLTALGTST ASIATPIPHP IQGSLPPYSR LGMPLTPSAI 400
    ASSMQGSGPT FPSFHMPRYH HYFQQGPYAA IQGLRHSSAV MTPFV 445
    Length:445
    Mass (Da):49,096
    Last modified:November 28, 2006 - v3
    Checksum:i4EAEED0DF0329E57
    GO
    Isoform 2 (identifier: Q9ES03-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         298-445: Missing.

    Show »
    Length:297
    Mass (Da):33,203
    Checksum:iD879B42E2505349D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti62 – 621D → N in AAG15491. (PubMed:10940636)Curated
    Sequence conflicti117 – 1171T → P in AAG15491. (PubMed:10940636)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei298 – 445148Missing in isoform 2. 2 PublicationsVSP_021730Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF260557 mRNA. Translation: AAG15491.1.
    AJ277486 mRNA. Translation: CAC04520.1.
    AF306667 mRNA. Translation: AAG48599.1.
    AK141251 mRNA. Translation: BAE24617.1.
    CCDSiCCDS22933.1. [Q9ES03-1]
    CCDS52744.1. [Q9ES03-2]
    RefSeqiNP_001192014.1. NM_001205085.1.
    NP_065242.1. NM_020496.3. [Q9ES03-2]
    NP_919239.1. NM_194263.2. [Q9ES03-1]
    UniGeneiMm.31452.

    Genome annotation databases

    EnsembliENSMUST00000052946; ENSMUSP00000052591; ENSMUSG00000031965. [Q9ES03-1]
    ENSMUST00000166018; ENSMUSP00000126318; ENSMUSG00000031965. [Q9ES03-2]
    GeneIDi57246.
    KEGGimmu:57246.
    UCSCiuc009ope.2. mouse. [Q9ES03-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF260557 mRNA. Translation: AAG15491.1 .
    AJ277486 mRNA. Translation: CAC04520.1 .
    AF306667 mRNA. Translation: AAG48599.1 .
    AK141251 mRNA. Translation: BAE24617.1 .
    CCDSi CCDS22933.1. [Q9ES03-1 ]
    CCDS52744.1. [Q9ES03-2 ]
    RefSeqi NP_001192014.1. NM_001205085.1.
    NP_065242.1. NM_020496.3. [Q9ES03-2 ]
    NP_919239.1. NM_194263.2. [Q9ES03-1 ]
    UniGenei Mm.31452.

    3D structure databases

    ProteinModelPortali Q9ES03.
    SMRi Q9ES03. Positions 99-287.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 208216. 1 interaction.
    STRINGi 10090.ENSMUSP00000052591.

    Proteomic databases

    PRIDEi Q9ES03.

    Protocols and materials databases

    DNASUi 57246.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000052946 ; ENSMUSP00000052591 ; ENSMUSG00000031965 . [Q9ES03-1 ]
    ENSMUST00000166018 ; ENSMUSP00000126318 ; ENSMUSG00000031965 . [Q9ES03-2 ]
    GeneIDi 57246.
    KEGGi mmu:57246.
    UCSCi uc009ope.2. mouse. [Q9ES03-1 ]

    Organism-specific databases

    CTDi 57057.
    MGIi MGI:1888496. Tbx20.

    Phylogenomic databases

    eggNOGi NOG272513.
    GeneTreei ENSGT00740000115189.
    HOGENOMi HOG000286000.
    HOVERGENi HBG067710.
    InParanoidi Q9ES03.
    KOi K10185.
    OMAi RHSSTVM.
    OrthoDBi EOG7GN2PM.
    PhylomeDBi Q9ES03.
    TreeFami TF106341.

    Miscellaneous databases

    NextBioi 313513.
    PROi Q9ES03.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9ES03.
    CleanExi MM_TBX20.
    Genevestigatori Q9ES03.

    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. "Tbx12, a novel T-box gene, is expressed during early stages of heart and retinal development."
      Carson C.T., Kinzler E.R., Parr B.A.
      Mech. Dev. 96:137-140(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    2. "Characterization of the human TBX20 gene, a new member of the T-box gene family closely related to the Drosophila H15 gene."
      Meins M., Henderson D.J., Bhattacharya S.S., Sowden J.C.
      Genomics 67:317-332(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Fetal heart.
    3. "Cloning and expression analysis of the mouse T-box gene tbx20."
      Kraus F., Haenig B., Kispert A.
      Mech. Dev. 100:87-91(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
      Strain: NIH Swiss.
      Tissue: Embryonic heart.
    4. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Strain: C57BL/6J.
    5. "Tbx20 is essential for cardiac chamber differentiation and repression of Tbx2."
      Singh M.K., Christoffels V.M., Dias J.M., Trowe M.O., Petry M., Schuster-Gossler K., Burger A., Ericson J., Kispert A.
      Development 132:2697-2707(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISRUPTION PHENOTYPE.
    6. "Dual transcriptional activator and repressor roles of TBX20 regulate adult cardiac structure and function."
      Sakabe N.J., Aneas I., Shen T., Shokri L., Park S.Y., Bulyk M.L., Evans S.M., Nobrega M.A.
      Hum. Mol. Genet. 21:2194-2204(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.

    Entry informationi

    Entry nameiTBX20_MOUSE
    AccessioniPrimary (citable) accession number: Q9ES03
    Secondary accession number(s): Q9EPZ5, Q9ESX1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: November 28, 2006
    Last modified: October 1, 2014
    This is version 121 of the entry and version 3 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