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Q9UMR3

- TBX20_HUMAN

UniProt

Q9UMR3 - TBX20_HUMAN

Protein

T-box transcription factor TBX20

Gene

TBX20

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 4 (31 May 2011)
      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.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi109 – 288180T-boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. aortic valve morphogenesis Source: BHF-UCL
    2. atrial septum morphogenesis Source: BHF-UCL
    3. blood circulation Source: Ensembl
    4. cardiac chamber formation Source: BHF-UCL
    5. cardiac muscle tissue morphogenesis Source: BHF-UCL
    6. cardiac right ventricle morphogenesis Source: BHF-UCL
    7. cardiac septum development Source: BHF-UCL
    8. cell proliferation Source: Ensembl
    9. dorsal/ventral pattern formation Source: BHF-UCL
    10. embryonic heart tube elongation Source: Ensembl
    11. embryonic heart tube morphogenesis Source: BHF-UCL
    12. endocardial cushion formation Source: BHF-UCL
    13. endocardial cushion morphogenesis Source: BHF-UCL
    14. endoderm formation Source: BHF-UCL
    15. foramen ovale closure Source: BHF-UCL
    16. heart looping Source: BHF-UCL
    17. lateral mesoderm formation Source: BHF-UCL
    18. muscle contraction Source: Ensembl
    19. negative regulation of SMAD protein complex assembly Source: Ensembl
    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: Ensembl
    23. outflow tract septum morphogenesis Source: BHF-UCL
    24. patterning of blood vessels Source: Ensembl
    25. pericardium morphogenesis Source: BHF-UCL
    26. positive regulation of cardiac muscle cell proliferation Source: BHF-UCL
    27. positive regulation of transcription from RNA polymerase II promoter Source: GOC
    28. pulmonary valve formation Source: BHF-UCL
    29. pulmonary vein morphogenesis Source: BHF-UCL
    30. tricuspid valve development Source: BHF-UCL
    31. 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
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:11598. 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

    Involvement in diseasei

    Atrial septal defect 4 (ASD4) [MIM:611363]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti152 – 1521I → M in ASD4. 1 Publication
    VAR_036995

    Keywords - Diseasei

    Atrial septal defect, Cardiomyopathy, Disease mutation

    Organism-specific databases

    MIMi611363. phenotype.
    Orphaneti99103. Atrial septal defect, ostium secundum type.
    PharmGKBiPA36361.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 447447T-box transcription factor TBX20PRO_0000184451Add
    BLAST

    Proteomic databases

    PaxDbiQ9UMR3.
    PRIDEiQ9UMR3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9UMR3.
    BgeeiQ9UMR3.
    CleanExiHS_TBX20.
    GenevestigatoriQ9UMR3.

    Organism-specific databases

    HPAiHPA008192.

    Interactioni

    Protein-protein interaction databases

    BioGridi121349. 2 interactions.
    STRINGi9606.ENSP00000386170.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UMR3.
    SMRiQ9UMR3. Positions 100-288.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi71 – 799Poly-Ser

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG272513.
    HOGENOMiHOG000286000.
    HOVERGENiHBG067710.
    InParanoidiQ9UMR3.
    KOiK10185.
    OMAiRHSSTVM.
    OrthoDBiEOG7GN2PM.
    PhylomeDBiQ9UMR3.
    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]

    Sequencei

    Sequence statusi: Complete.

    Q9UMR3-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEFTASPKPQ LSSRANAFSI AALMSSGGSK EKEATENTIK PLEQFVEKSS    50
    CAQPLGELTS LDAHGEFGGG SGSSPSSSSL CTEPLIPTTP IIPSEEMAKI 100
    ACSLETKELW DKFHELGTEM IITKSGRRMF PTIRVSFSGV DPEAKYIVLM 150
    DIVPVDNKRY RYAYHRSSWL VAGKADPPLP ARLYVHPDSP FTGEQLLKQM 200
    VSFEKVKLTN NELDQHGHII LNSMHKYQPR VHIIKKKDHT ASLLNLKSEE 250
    FRTFIFPETV FTAVTAYQNQ LITKLKIDSN PFAKGFRDSS RLTDIERESV 300
    ESLIQKHSYA RSPIRTYGGE EDVLGDESQT TPNRGSAFTT SDNLSLSSWV 350
    SSSSSFPGFQ HPQSLTALGT STASIATPIP HPIQGSLPPY SRLGMPLTPS 400
    AIASSMQGSG PTFPSFHMPR YHHYFQQGPY AAIQGLRHSS AVMTPFV 447
    Length:447
    Mass (Da):49,232
    Last modified:May 31, 2011 - v4
    Checksum:iA6B43488373D81D1
    GO

    Sequence cautioni

    The sequence AAI20946.1 differs from that shown. Reason: Intron retention.
    The sequence AAI20947.1 differs from that shown. Reason: Intron retention.
    The sequence AAI20946.1 differs from that shown. Reason: Frameshift at position 294.
    The sequence AAD21787.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti152 – 1521I → M in ASD4. 1 Publication
    VAR_036995

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ986374 mRNA. Translation: ABJ15760.1.
    HM015599 Genomic DNA. Translation: ADL14520.1.
    AC005826 Genomic DNA. No translation available.
    AC009531 Genomic DNA. No translation available.
    AC006379 Genomic DNA. Translation: AAD21787.1. Sequence problems.
    CH236951 Genomic DNA. Translation: EAL23971.1.
    BC120945 mRNA. Translation: AAI20946.1. Sequence problems.
    BC120946 mRNA. Translation: AAI20947.1. Sequence problems.
    AJ237589 mRNA. Translation: CAB51916.1.
    CCDSiCCDS43568.1.
    RefSeqiNP_001071121.1. NM_001077653.2.
    NP_001159692.1. NM_001166220.1.
    UniGeneiHs.404167.

    Genome annotation databases

    EnsembliENST00000408931; ENSP00000386170; ENSG00000164532.
    GeneIDi57057.
    KEGGihsa:57057.
    UCSCiuc011kas.2. human.

    Polymorphism databases

    DMDMi334302934.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ986374 mRNA. Translation: ABJ15760.1 .
    HM015599 Genomic DNA. Translation: ADL14520.1 .
    AC005826 Genomic DNA. No translation available.
    AC009531 Genomic DNA. No translation available.
    AC006379 Genomic DNA. Translation: AAD21787.1 . Sequence problems.
    CH236951 Genomic DNA. Translation: EAL23971.1 .
    BC120945 mRNA. Translation: AAI20946.1 . Sequence problems.
    BC120946 mRNA. Translation: AAI20947.1 . Sequence problems.
    AJ237589 mRNA. Translation: CAB51916.1 .
    CCDSi CCDS43568.1.
    RefSeqi NP_001071121.1. NM_001077653.2.
    NP_001159692.1. NM_001166220.1.
    UniGenei Hs.404167.

    3D structure databases

    ProteinModelPortali Q9UMR3.
    SMRi Q9UMR3. Positions 100-288.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121349. 2 interactions.
    STRINGi 9606.ENSP00000386170.

    Polymorphism databases

    DMDMi 334302934.

    Proteomic databases

    PaxDbi Q9UMR3.
    PRIDEi Q9UMR3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000408931 ; ENSP00000386170 ; ENSG00000164532 .
    GeneIDi 57057.
    KEGGi hsa:57057.
    UCSCi uc011kas.2. human.

    Organism-specific databases

    CTDi 57057.
    GeneCardsi GC07M035237.
    HGNCi HGNC:11598. TBX20.
    HPAi HPA008192.
    MIMi 606061. gene.
    611363. phenotype.
    neXtProti NX_Q9UMR3.
    Orphaneti 99103. Atrial septal defect, ostium secundum type.
    PharmGKBi PA36361.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG272513.
    HOGENOMi HOG000286000.
    HOVERGENi HBG067710.
    InParanoidi Q9UMR3.
    KOi K10185.
    OMAi RHSSTVM.
    OrthoDBi EOG7GN2PM.
    PhylomeDBi Q9UMR3.
    TreeFami TF106341.

    Miscellaneous databases

    GenomeRNAii 57057.
    NextBioi 62840.
    PROi Q9UMR3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UMR3.
    Bgeei Q9UMR3.
    CleanExi HS_TBX20.
    Genevestigatori Q9UMR3.

    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. "Identification of a new human TBX20 splice variant."
      Toenjes M., Sperling S.
      Submitted (SEP-2006) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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].
    6. "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] OF 97-296.
      Tissue: Fetal eye.
    7. "Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy."
      Kirk E.P., Sunde M., Costa M.W., Rankin S.A., Wolstein O., Castro M.L., Butler T.L., Hyun C., Guo G., Otway R., Mackay J.P., Waddell L.B., Cole A.D., Hayward C., Keogh A., Macdonald P., Griffiths L., Fatkin D.
      , Sholler G.F., Zorn A.M., Feneley M.P., Winlaw D.S., Harvey R.P.
      Am. J. Hum. Genet. 81:280-291(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ASD4 MET-152.

    Entry informationi

    Entry nameiTBX20_HUMAN
    AccessioniPrimary (citable) accession number: Q9UMR3
    Secondary accession number(s): A4D1Y6
    , Q000T4, Q0IJ70, Q0VAS1, Q9Y2N5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: May 31, 2011
    Last modified: October 1, 2014
    This is version 125 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3