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O95947

- TBX6_HUMAN

UniProt

O95947 - TBX6_HUMAN

Protein

T-box transcription factor TBX6

Gene

TBX6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 2 (03 Oct 2006)
      Previous versions | rss
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    Functioni

    T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi100 – 273174T-boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: ProtInc
    2. RNA polymerase II activating transcription factor binding Source: BHF-UCL
    3. RNA polymerase II transcription factor binding Source: BHF-UCL
    4. RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription Source: BHF-UCL
    5. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. anatomical structure morphogenesis Source: ProtInc
    2. cell fate specification Source: Ensembl
    3. mesoderm development Source: ProtInc
    4. mesoderm formation Source: Ensembl
    5. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    6. signal transduction involved in regulation of gene expression Source: Ensembl

    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 TBX6
    Short name:
    T-box protein 6
    Gene namesi
    Name:TBX6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:11605. TBX6.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Spondylocostal dysostosis 5, autosomal dominant (SCDO5) [MIM:122600]: A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Dwarfism

    Organism-specific databases

    MIMi122600. phenotype.
    Orphaneti1797. Autosomal dominant spondylocostal dysostosis.
    247775. Classic Mayer-Rokitansky-Kuster-Hauser syndrome.
    2578. MURCS association.
    PharmGKBiPA36368.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 436436T-box transcription factor TBX6PRO_0000184438Add
    BLAST

    Proteomic databases

    PaxDbiO95947.
    PRIDEiO95947.

    PTM databases

    PhosphoSiteiO95947.

    Expressioni

    Tissue specificityi

    Expressed in fetal tail bud, posterior spinal tissue, intervertebral disk and testis. Also expressed in adult testis, kidney, lung, muscle and thymus.

    Developmental stagei

    Expressed during gastrulation and during a second phase in some adult tissues.

    Gene expression databases

    ArrayExpressiO95947.
    BgeeiO95947.
    CleanExiHS_TBX6.
    GenevestigatoriO95947.

    Interactioni

    Subunit structurei

    Forms a dimeric complex with DNA (in vitro).

    Protein-protein interaction databases

    BioGridi112774. 1 interaction.
    IntActiO95947. 2 interactions.
    MINTiMINT-6772404.
    STRINGi9606.ENSP00000279386.

    Structurei

    3D structure databases

    ProteinModelPortaliO95947.
    SMRiO95947. Positions 90-272.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG240293.
    HOGENOMiHOG000286000.
    HOVERGENiHBG101171.
    InParanoidiO95947.
    KOiK10180.
    OMAiFAPHFLQ.
    OrthoDBiEOG7JMGDH.
    PhylomeDBiO95947.
    TreeFamiTF106341.

    Family and domain databases

    Gene3Di2.60.40.820. 1 hit.
    InterProiIPR008967. p53-like_TF_DNA-bd.
    IPR002070. TF_Brachyury.
    IPR001699. TF_T-box.
    IPR018186. TF_T-box_CS.
    [Graphical view]
    PANTHERiPTHR11267. PTHR11267. 1 hit.
    PfamiPF00907. T-box. 1 hit.
    [Graphical view]
    PRINTSiPR00938. BRACHYURY.
    PR00937. 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: O95947-1) [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

    MYHPRELYPS LGAGYRLGPA QPGADSSFPP ALAEGYRYPE LDTPKLDCFL    50
    SGMEAAPRTL AAHPPLPLLP PAMGTEPAPS APEALHSLPG VSLSLENREL 100
    WKEFSSVGTE MIITKAGRRM FPACRVSVTG LDPEARYLFL LDVIPVDGAR 150
    YRWQGRRWEP SGKAEPRLPD RVYIHPDSPA TGAHWMRQPV SFHRVKLTNS 200
    TLDPHGHLIL HSMHKYQPRI HLVRAAQLCS QHWGGMASFR FPETTFISVT 250
    AYQNPQITQL KIAANPFAKG FRENGRNCKR ERDARVKRKL RGPEPAATEA 300
    YGSGDTPGGP CDSTLGGDIR ESDPEQAPAP GEATAAPAPL CGGPSAEAYL 350
    LHPAAFHGAP SHLPTRSPSF PEAPDSGRSA PYSAAFLELP HGSGGSGYPA 400
    APPAVPFAPH FLQGGPFPLP YTAPGGYLDV GSKPMY 436
    Length:436
    Mass (Da):47,045
    Last modified:October 3, 2006 - v2
    Checksum:i649CDFB141B966F4
    GO
    Isoform 2 (identifier: O95947-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         281-294: ERDARVKRKLRGPE → WELFIHLFMHSTNV
         295-435: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:295
    Mass (Da):33,197
    Checksum:iF2BD3E53E0ED21E0
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti207 – 2071H → HV in CAB37938. (PubMed:9888994)Curated
    Sequence conflicti388 – 3892EL → DV in CAA07812. (PubMed:9933572)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti162 – 1621G → S.
    Corresponds to variant rs56098093 [ dbSNP | Ensembl ].
    VAR_061837
    Natural varianti178 – 1781S → F.
    Corresponds to variant rs12925839 [ dbSNP | Ensembl ].
    VAR_027836
    Natural varianti179 – 1791P → S.
    Corresponds to variant rs12925838 [ dbSNP | Ensembl ].
    VAR_027837

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei281 – 29414ERDAR…LRGPE → WELFIHLFMHSTNV in isoform 2. 1 PublicationVSP_054003Add
    BLAST
    Alternative sequencei295 – 435141Missing in isoform 2. 1 PublicationVSP_054004Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ007989 mRNA. Translation: CAA07812.1.
    AK022330 mRNA. Translation: BAB14014.1.
    AC012645 Genomic DNA. No translation available.
    AC093512 Genomic DNA. No translation available.
    CH471238 Genomic DNA. Translation: EAW79927.1.
    BC026031 mRNA. Translation: AAH26031.1.
    AJ010279 Genomic DNA. Translation: CAB37938.1.
    CCDSiCCDS10670.1. [O95947-1]
    RefSeqiNP_004599.2. NM_004608.3. [O95947-1]
    XP_005255580.1. XM_005255523.1. [O95947-1]
    UniGeneiHs.198301.

    Genome annotation databases

    EnsembliENST00000279386; ENSP00000279386; ENSG00000149922. [O95947-1]
    ENST00000395224; ENSP00000378650; ENSG00000149922. [O95947-1]
    ENST00000553607; ENSP00000461223; ENSG00000149922. [O95947-2]
    ENST00000567664; ENSP00000460425; ENSG00000149922. [O95947-2]
    GeneIDi6911.
    KEGGihsa:6911.
    UCSCiuc002dwk.1. human.
    uc010veh.2. human. [O95947-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ007989 mRNA. Translation: CAA07812.1 .
    AK022330 mRNA. Translation: BAB14014.1 .
    AC012645 Genomic DNA. No translation available.
    AC093512 Genomic DNA. No translation available.
    CH471238 Genomic DNA. Translation: EAW79927.1 .
    BC026031 mRNA. Translation: AAH26031.1 .
    AJ010279 Genomic DNA. Translation: CAB37938.1 .
    CCDSi CCDS10670.1. [O95947-1 ]
    RefSeqi NP_004599.2. NM_004608.3. [O95947-1 ]
    XP_005255580.1. XM_005255523.1. [O95947-1 ]
    UniGenei Hs.198301.

    3D structure databases

    ProteinModelPortali O95947.
    SMRi O95947. Positions 90-272.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112774. 1 interaction.
    IntActi O95947. 2 interactions.
    MINTi MINT-6772404.
    STRINGi 9606.ENSP00000279386.

    PTM databases

    PhosphoSitei O95947.

    Proteomic databases

    PaxDbi O95947.
    PRIDEi O95947.

    Protocols and materials databases

    DNASUi 6911.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000279386 ; ENSP00000279386 ; ENSG00000149922 . [O95947-1 ]
    ENST00000395224 ; ENSP00000378650 ; ENSG00000149922 . [O95947-1 ]
    ENST00000553607 ; ENSP00000461223 ; ENSG00000149922 . [O95947-2 ]
    ENST00000567664 ; ENSP00000460425 ; ENSG00000149922 . [O95947-2 ]
    GeneIDi 6911.
    KEGGi hsa:6911.
    UCSCi uc002dwk.1. human.
    uc010veh.2. human. [O95947-1 ]

    Organism-specific databases

    CTDi 6911.
    GeneCardsi GC16M030097.
    HGNCi HGNC:11605. TBX6.
    MIMi 122600. phenotype.
    602427. gene.
    neXtProti NX_O95947.
    Orphaneti 1797. Autosomal dominant spondylocostal dysostosis.
    247775. Classic Mayer-Rokitansky-Kuster-Hauser syndrome.
    2578. MURCS association.
    PharmGKBi PA36368.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG240293.
    HOGENOMi HOG000286000.
    HOVERGENi HBG101171.
    InParanoidi O95947.
    KOi K10180.
    OMAi FAPHFLQ.
    OrthoDBi EOG7JMGDH.
    PhylomeDBi O95947.
    TreeFami TF106341.

    Miscellaneous databases

    GenomeRNAii 6911.
    NextBioi 13651042.
    PROi O95947.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O95947.
    Bgeei O95947.
    CleanExi HS_TBX6.
    Genevestigatori O95947.

    Family and domain databases

    Gene3Di 2.60.40.820. 1 hit.
    InterProi IPR008967. p53-like_TF_DNA-bd.
    IPR002070. TF_Brachyury.
    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 PR00938. BRACHYURY.
    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 human TBX6 gene: cloning and assignment to chromosome 16p11.2."
      Papapetrou C., Putt W., Fox M., Edwards Y.H.
      Genomics 55:238-241(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Mammary gland.
    3. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. 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] (ISOFORM 1).
      Tissue: Brain.
    6. "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 [GENOMIC DNA] OF 135-272.
      Tissue: Myeloid.
    7. Cited for: INVOLVEMENT IN SCDO5.

    Entry informationi

    Entry nameiTBX6_HUMAN
    AccessioniPrimary (citable) accession number: O95947
    Secondary accession number(s): Q8TAS4, Q9HA44
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: October 3, 2006
    Last modified: October 1, 2014
    This is version 134 of the entry and version 2 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 16
      Human chromosome 16: 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