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O95935

- TBX18_HUMAN

UniProt

O95935 - TBX18_HUMAN

Protein

T-box transcription factor TBX18

Gene

TBX18

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 3 (10 May 2004)
      Previous versions | rss
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    Functioni

    Probable transcriptional regulator involved in developmental processes.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi143 – 330188T-boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. anterior/posterior axis specification Source: Ensembl
    2. cochlea morphogenesis Source: Ensembl
    3. morphogenesis of embryonic epithelium Source: Ensembl
    4. negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation Source: BHF-UCL
    5. negative regulation of transcription from RNA polymerase II promoter Source: GOC
    6. positive regulation of cell-cell adhesion Source: Ensembl
    7. positive regulation of epithelial cell proliferation Source: Ensembl
    8. positive regulation of mesenchymal cell proliferation involved in ureter development Source: Ensembl
    9. sensory perception of sound Source: Ensembl
    10. sinoatrial node development Source: Ensembl
    11. smooth muscle cell differentiation Source: Ensembl
    12. somitogenesis Source: Ensembl

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    T-box transcription factor TBX18
    Short name:
    T-box protein 18
    Gene namesi
    Name:TBX18
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:11595. TBX18.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: BHF-UCL

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA36358.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 607607T-box transcription factor TBX18PRO_0000184446Add
    BLAST

    Proteomic databases

    MaxQBiO95935.
    PaxDbiO95935.
    PRIDEiO95935.

    PTM databases

    PhosphoSiteiO95935.

    Expressioni

    Gene expression databases

    BgeeiO95935.
    CleanExiHS_TBX18.
    GenevestigatoriO95935.

    Organism-specific databases

    HPAiHPA029014.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000358677.

    Structurei

    3D structure databases

    ProteinModelPortaliO95935.
    SMRiO95935. Positions 141-330.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG259442.
    HOGENOMiHOG000039966.
    HOVERGENiHBG055831.
    InParanoidiO95935.
    KOiK10183.
    OMAiANQTHQG.
    OrthoDBiEOG7GN2PM.
    PhylomeDBiO95935.
    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.

    O95935-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAEKRRGSPC SMLSLKAHAF SVEALIGAEK QQQLQKKRRK LGAEEAAGAV    50
    DDGGCSRGGG AGEKGSSEGD EGAALPPPAG ATSGPARSGA DLERGAAGGC 100
    EDGFQQGASP LASPGGSPKG SPARSLARPG TPLPSPQAPR VDLQGAELWK 150
    RFHEIGTEMI ITKAGRRMFP AMRVKISGLD PHQQYYIAMD IVPVDNKRYR 200
    YVYHSSKWMV AGNADSPVPP RVYIHPDSPA SGETWMRQVI SFDKLKLTNN 250
    ELDDQGHIIL HSMHKYQPRV HVIRKDCGDD LSPIKPVPSG EGVKAFSFPE 300
    TVFTTVTAYQ NQQITRLKID RNPFAKGFRD SGRNRMGLEA LVESYAFWRP 350
    SLRTLTFEDI PGIPKQGNAS SSTLLQGTGN GVPATHPHLL SGSSCSSPAF 400
    HLGPNTSQLC SLAPADYSAC ARSGLTLNRY STSLAETYNR LTNQAGETFA 450
    PPRTPSYVGV SSSTSVNMSM GGTDGDTFSC PQTSLSMQIS GMSPQLQYIM 500
    PSPSSNAFAT NQTHQGSYNT FRLHSPCALY GYNFSTSPKL AASPEKIVSS 550
    QGSFLGSSPS GTMTDRQMLP PVEGVHLLSS GGQQSFFDSR TLGSLTLSSS 600
    QVSAHMV 607
    Length:607
    Mass (Da):64,753
    Last modified:May 10, 2004 - v3
    Checksum:iAFDCE41154CA55DA
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti48 – 481G → R.1 Publication
    Corresponds to variant rs172562 [ dbSNP | Ensembl ].
    VAR_052263

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL035694 Genomic DNA. Translation: CAD92511.1.
    BC132715 mRNA. Translation: AAI32716.1.
    BC157841 mRNA. Translation: AAI57842.1.
    AJ010278 mRNA. Translation: CAB37937.1.
    CCDSiCCDS34495.1.
    RefSeqiNP_001073977.1. NM_001080508.2.
    UniGeneiHs.251830.

    Genome annotation databases

    EnsembliENST00000369663; ENSP00000358677; ENSG00000112837.
    GeneIDi9096.
    KEGGihsa:9096.
    UCSCiuc003pkl.2. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL035694 Genomic DNA. Translation: CAD92511.1 .
    BC132715 mRNA. Translation: AAI32716.1 .
    BC157841 mRNA. Translation: AAI57842.1 .
    AJ010278 mRNA. Translation: CAB37937.1 .
    CCDSi CCDS34495.1.
    RefSeqi NP_001073977.1. NM_001080508.2.
    UniGenei Hs.251830.

    3D structure databases

    ProteinModelPortali O95935.
    SMRi O95935. Positions 141-330.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000358677.

    PTM databases

    PhosphoSitei O95935.

    Proteomic databases

    MaxQBi O95935.
    PaxDbi O95935.
    PRIDEi O95935.

    Protocols and materials databases

    DNASUi 9096.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000369663 ; ENSP00000358677 ; ENSG00000112837 .
    GeneIDi 9096.
    KEGGi hsa:9096.
    UCSCi uc003pkl.2. human.

    Organism-specific databases

    CTDi 9096.
    GeneCardsi GC06M085400.
    H-InvDB HIX0032809.
    HGNCi HGNC:11595. TBX18.
    HPAi HPA029014.
    MIMi 604613. gene.
    neXtProti NX_O95935.
    PharmGKBi PA36358.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG259442.
    HOGENOMi HOG000039966.
    HOVERGENi HBG055831.
    InParanoidi O95935.
    KOi K10183.
    OMAi ANQTHQG.
    OrthoDBi EOG7GN2PM.
    PhylomeDBi O95935.
    TreeFami TF106341.

    Miscellaneous databases

    ChiTaRSi TBX18. human.
    GenomeRNAii 9096.
    NextBioi 34085.
    PROi O95935.
    SOURCEi Search...

    Gene expression databases

    Bgeei O95935.
    CleanExi HS_TBX18.
    Genevestigatori O95935.

    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. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "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], VARIANT ARG-48.
    3. "Identification, mapping and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19."
      Yi C.-H., Terrett J.A., Li Q.-Y., Ellington K., Packham E.A., Amstrong-Buisseret L., McClure P., Slingsby T., Brook J.D.
      Genomics 55:10-20(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 149-330.

    Entry informationi

    Entry nameiTBX18_HUMAN
    AccessioniPrimary (citable) accession number: O95935
    Secondary accession number(s): A2RU13, Q7Z6U4, Q9UJI6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: May 10, 2004
    Last modified: October 1, 2014
    This is version 117 of the entry and version 3 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 6
      Human chromosome 6: 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