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O15178

- BRAC_HUMAN

UniProt

O15178 - BRAC_HUMAN

Protein

Brachyury protein

Gene

T

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    Functioni

    Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic site (called T site) and activates gene transcription when bound to such a site.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi51 – 219169T-boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. RNA polymerase II activating transcription factor binding Source: BHF-UCL
    2. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: BHF-UCL
    3. RNA polymerase II distal enhancer sequence-specific DNA binding Source: BHF-UCL
    4. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: BHF-UCL
    5. RNA polymerase II transcription factor binding Source: BHF-UCL
    6. RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription Source: BHF-UCL
    7. sequence-specific DNA binding transcription factor activity Source: ProtInc

    GO - Biological processi

    1. anterior/posterior axis specification, embryo Source: ProtInc
    2. BMP signaling pathway Source: Ensembl
    3. bone morphogenesis Source: Ensembl
    4. canonical Wnt signaling pathway Source: Ensembl
    5. determination of heart left/right asymmetry Source: Ensembl
    6. embryonic skeletal system development Source: Ensembl
    7. heart morphogenesis Source: BHF-UCL
    8. mesoderm development Source: ProtInc
    9. mesoderm migration involved in gastrulation Source: Ensembl
    10. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    11. neural plate morphogenesis Source: Ensembl
    12. neural tube closure Source: Ensembl
    13. notochord formation Source: Ensembl
    14. penetration of zona pellucida Source: Ensembl
    15. positive regulation of cell proliferation Source: Ensembl
    16. positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation Source: BHF-UCL
    17. post-anal tail morphogenesis Source: Ensembl
    18. primitive streak formation Source: BHF-UCL
    19. signal transduction Source: ProtInc
    20. signal transduction involved in regulation of gene expression Source: Ensembl
    21. SMAD protein signal transduction Source: Ensembl
    22. somitogenesis Source: Ensembl
    23. vasculogenesis Source: Ensembl

    Keywords - Molecular functioni

    Activator, Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Brachyury protein
    Alternative name(s):
    Protein T
    Gene namesi
    Name:T
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:11515. T.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: Ensembl
    2. nuclear chromatin Source: BHF-UCL

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Chordoma (CHDM) [MIM:215400]: Rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues and rarely, distant metastatic spread.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Susceptibility to development of chordomas is due to a T gene duplication.

    Organism-specific databases

    MIMi182940. phenotype.
    215400. phenotype.
    Orphaneti268392. Cervical spina bifida aperta.
    268762. Cervical spina bifida cystica.
    268397. Cervicothoracic spina bifida aperta.
    268766. Cervicothoracic spina bifida cystica.
    178. Chordoma.
    268388. Lumbosacral spina bifida aperta.
    268758. Lumbosacral spina bifida cystica.
    268384. Thoracolumbosacral spina bifida aperta.
    268752. Thoracolumbosacral spina bifida cystica.
    268377. Total spina bifida aperta.
    268748. Total spina bifida cystica.
    268740. Upper thoracic spina bifida aperta.
    268770. Upper thoracic spina bifida cystica.
    PharmGKBiPA36296.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 435435Brachyury proteinPRO_0000184414Add
    BLAST

    Proteomic databases

    MaxQBiO15178.
    PaxDbiO15178.
    PRIDEiO15178.

    PTM databases

    PhosphoSiteiO15178.

    Expressioni

    Gene expression databases

    ArrayExpressiO15178.
    BgeeiO15178.
    CleanExiHS_T.
    GenevestigatoriO15178.

    Organism-specific databases

    HPAiHPA003322.

    Interactioni

    Subunit structurei

    Monomer.By similarity

    Protein-protein interaction databases

    STRINGi9606.ENSP00000296946.

    Structurei

    3D structure databases

    ProteinModelPortaliO15178.
    SMRiO15178. Positions 41-223.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG257463.
    HOGENOMiHOG000063663.
    HOVERGENiHBG004599.
    InParanoidiO15178.
    KOiK10172.
    OMAiQFFRGSP.
    OrthoDBiEOG7GN2PM.
    PhylomeDBiO15178.
    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: O15178-1) [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

    MSSPGTESAG KSLQYRVDHL LSAVENELQA GSEKGDPTER ELRVGLEESE    50
    LWLRFKELTN EMIVTKNGRR MFPVLKVNVS GLDPNAMYSF LLDFVAADNH 100
    RWKYVNGEWV PGGKPEPQAP SCVYIHPDSP NFGAHWMKAP VSFSKVKLTN 150
    KLNGGGQIML NSLHKYEPRI HIVRVGGPQR MITSHCFPET QFIAVTAYQN 200
    EEITALKIKY NPFAKAFLDA KERSDHKEMM EEPGDSQQPG YSQWGWLLPG 250
    TSTLCPPANP HPQFGGALSL PSTHSCDRYP TLRSHRSSPY PSPYAHRNNS 300
    PTYSDNSPAC LSMLQSHDNW SSLGMPAHPS MLPVSHNASP PTSSSQYPSL 350
    WSVSNGAVTP GSQAAAVSNG LGAQFFRGSP AHYTPLTHPV SAPSSSGSPL 400
    YEGAAAATDI VDSQYDAAAQ GRLIASWTPV SPPSM 435
    Length:435
    Mass (Da):47,443
    Last modified:January 1, 1998 - v1
    Checksum:i9D470088C8602631
    GO
    Isoform 2 (identifier: O15178-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         244-302: WGWLLPGTSTLCPPANPHPQFGGALSLPSTHSCDRYPTLRSHRSSPYPSPYAHRNNSPT → S

    Note: No experimental confirmation available.

    Show »
    Length:377
    Mass (Da):41,078
    Checksum:i28A89725810C9002
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti177 – 1771G → D.1 Publication
    Corresponds to variant rs2305089 [ dbSNP | Ensembl ].
    VAR_021982
    Natural varianti356 – 3561G → S.
    Corresponds to variant rs3127328 [ dbSNP | Ensembl ].
    VAR_024656
    Natural varianti358 – 3581V → I.
    Corresponds to variant rs77703807 [ dbSNP | Ensembl ].
    VAR_063239
    Natural varianti367 – 3671V → M.
    Corresponds to variant rs35292451 [ dbSNP | Ensembl ].
    VAR_032457
    Natural varianti369 – 3691N → S.
    Corresponds to variant rs3816300 [ dbSNP | Ensembl ].
    VAR_020250
    Natural varianti402 – 4021E → K.
    Corresponds to variant rs34517945 [ dbSNP | Ensembl ].
    VAR_032458

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei244 – 30259WGWLL…NNSPT → S in isoform 2. 1 PublicationVSP_044795Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ001699 mRNA. Translation: CAA04938.1.
    AL627443 Genomic DNA. Translation: CAI14269.1.
    BC098425 mRNA. Translation: AAH98425.1.
    CCDSiCCDS5290.1. [O15178-1]
    CCDS59045.1. [O15178-2]
    RefSeqiNP_001257413.1. NM_001270484.1. [O15178-2]
    NP_003172.1. NM_003181.3. [O15178-1]
    UniGeneiHs.389457.
    Hs.742027.

    Genome annotation databases

    EnsembliENST00000296946; ENSP00000296946; ENSG00000164458. [O15178-1]
    ENST00000366871; ENSP00000355836; ENSG00000164458. [O15178-2]
    GeneIDi6862.
    KEGGihsa:6862.
    UCSCiuc003quu.2. human. [O15178-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ001699 mRNA. Translation: CAA04938.1 .
    AL627443 Genomic DNA. Translation: CAI14269.1 .
    BC098425 mRNA. Translation: AAH98425.1 .
    CCDSi CCDS5290.1. [O15178-1 ]
    CCDS59045.1. [O15178-2 ]
    RefSeqi NP_001257413.1. NM_001270484.1. [O15178-2 ]
    NP_003172.1. NM_003181.3. [O15178-1 ]
    UniGenei Hs.389457.
    Hs.742027.

    3D structure databases

    ProteinModelPortali O15178.
    SMRi O15178. Positions 41-223.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000296946.

    PTM databases

    PhosphoSitei O15178.

    Proteomic databases

    MaxQBi O15178.
    PaxDbi O15178.
    PRIDEi O15178.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000296946 ; ENSP00000296946 ; ENSG00000164458 . [O15178-1 ]
    ENST00000366871 ; ENSP00000355836 ; ENSG00000164458 . [O15178-2 ]
    GeneIDi 6862.
    KEGGi hsa:6862.
    UCSCi uc003quu.2. human. [O15178-1 ]

    Organism-specific databases

    CTDi 6862.
    GeneCardsi GC06M166541.
    HGNCi HGNC:11515. T.
    HPAi HPA003322.
    MIMi 182940. phenotype.
    215400. phenotype.
    601397. gene.
    neXtProti NX_O15178.
    Orphaneti 268392. Cervical spina bifida aperta.
    268762. Cervical spina bifida cystica.
    268397. Cervicothoracic spina bifida aperta.
    268766. Cervicothoracic spina bifida cystica.
    178. Chordoma.
    268388. Lumbosacral spina bifida aperta.
    268758. Lumbosacral spina bifida cystica.
    268384. Thoracolumbosacral spina bifida aperta.
    268752. Thoracolumbosacral spina bifida cystica.
    268377. Total spina bifida aperta.
    268748. Total spina bifida cystica.
    268740. Upper thoracic spina bifida aperta.
    268770. Upper thoracic spina bifida cystica.
    PharmGKBi PA36296.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG257463.
    HOGENOMi HOG000063663.
    HOVERGENi HBG004599.
    InParanoidi O15178.
    KOi K10172.
    OMAi QFFRGSP.
    OrthoDBi EOG7GN2PM.
    PhylomeDBi O15178.
    TreeFami TF106341.

    Miscellaneous databases

    GeneWikii Brachyury.
    GenomeRNAii 6862.
    NextBioi 26779.
    PROi O15178.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O15178.
    Bgeei O15178.
    CleanExi HS_T.
    Genevestigatori O15178.

    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 homolog T of the mouse T(Brachyury) gene; gene structure, cDNA sequence, and assignment to chromosome 6q27."
      Edwards Y.H., Putt W., Lekoape K.M., Stott D., Fox M., Hopkinson D.A., Sowden J.
      Genome Res. 6:226-233(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "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].
    3. "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 2), VARIANT ASP-177.
      Tissue: Lung.
    4. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO NTD.
    5. "T (brachyury) gene duplication confers major susceptibility to familial chordoma."
      Yang X.R., Ng D., Alcorta D.A., Liebsch N.J., Sheridan E., Li S., Goldstein A.M., Parry D.M., Kelley M.J.
      Nat. Genet. 41:1176-1178(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO THE DEVELOPMENT OF CHORDOMA.

    Entry informationi

    Entry nameiBRAC_HUMAN
    AccessioniPrimary (citable) accession number: O15178
    Secondary accession number(s): E7ERD6, Q4KMP4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: January 1, 1998
    Last modified: October 1, 2014
    This is version 122 of the entry and version 1 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