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O15178

- BRAC_HUMAN

UniProt

O15178 - BRAC_HUMAN

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Protein

Brachyury protein

Gene

T

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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. transcription from RNA polymerase II promoter Source: GOC
  24. vasculogenesis Source: Ensembl
Complete GO annotation...

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

Nucleus 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: Ensembl
  2. nuclear chromatin Source: BHF-UCL
  3. nucleus Source: UniProtKB
Complete GO annotation...

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.
Sacral agenesis with vertebral anomalies (SAVA) [MIM:615709]: A disorder characterized by abnormalities of the spine, including sacral agenesis, abnormal ossification of all vertebral bodies, and a persistent notochordal canal during development.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti171 – 1711H → R in SAVA; reduced DNA binding activity; increased cell growth; altered expression of genes involved in ossification and notochord maintenance. 1 Publication
VAR_071251

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi182940. phenotype.
215400. phenotype.
615709. 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.
397927. Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome.
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

BgeeiO15178.
CleanExiHS_T.
ExpressionAtlasiO15178. baseline and differential.
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.
GeneTreeiENSGT00760000118897.
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

        10         20         30         40         50
MSSPGTESAG KSLQYRVDHL LSAVENELQA GSEKGDPTER ELRVGLEESE
60 70 80 90 100
LWLRFKELTN EMIVTKNGRR MFPVLKVNVS GLDPNAMYSF LLDFVAADNH
110 120 130 140 150
RWKYVNGEWV PGGKPEPQAP SCVYIHPDSP NFGAHWMKAP VSFSKVKLTN
160 170 180 190 200
KLNGGGQIML NSLHKYEPRI HIVRVGGPQR MITSHCFPET QFIAVTAYQN
210 220 230 240 250
EEITALKIKY NPFAKAFLDA KERSDHKEMM EEPGDSQQPG YSQWGWLLPG
260 270 280 290 300
TSTLCPPANP HPQFGGALSL PSTHSCDRYP TLRSHRSSPY PSPYAHRNNS
310 320 330 340 350
PTYSDNSPAC LSMLQSHDNW SSLGMPAHPS MLPVSHNASP PTSSSQYPSL
360 370 380 390 400
WSVSNGAVTP GSQAAAVSNG LGAQFFRGSP AHYTPLTHPV SAPSSSGSPL
410 420 430
YEGAAAATDI VDSQYDAAAQ GRLIASWTPV SPPSM
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 varianti171 – 1711H → R in SAVA; reduced DNA binding activity; increased cell growth; altered expression of genes involved in ossification and notochord maintenance. 1 Publication
VAR_071251
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
615709. phenotype.
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.
397927. Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome.
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.
GeneTreei ENSGT00760000118897.
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

Bgeei O15178.
CleanExi HS_T.
ExpressionAtlasi O15178. baseline and differential.
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

« Hide 'large scale' publications
  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.
  6. "Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal."
    Postma A.V., Alders M., Sylva M., Bilardo C.M., Pajkrt E., van Rijn R.R., Schulte-Merker S., Bulk S., Stefanovic S., Ilgun A., Barnett P., Mannens M.M., Moorman A.F., Oostra R.J., van Maarle M.C.
    J. Med. Genet. 51:90-97(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SAVA, VARIANT SAVA ARG-171, CHARACTERIZATION OF SAVA ARG-171, SUBCELLULAR LOCATION.

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 29, 2014
This is version 123 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