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Protein

Brachyury protein

Gene

T

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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)DescriptionActionsGraphical viewLength
DNA bindingi51 – 219T-boxPROSITE-ProRule annotationAdd BLAST169

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:HS09084-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:11515. T.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: Ensembl
  • nuclear chromatin Source: BHF-UCL
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Neural tube defects (NTD)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionCongenital 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.
See also OMIM:182940
Chordoma (CHDM)1 Publication
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.
Disease descriptionRare, 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.
See also OMIM:215400
Sacral agenesis with vertebral anomalies (SAVA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by abnormalities of the spine, including sacral agenesis, abnormal ossification of all vertebral bodies, and a persistent notochordal canal during development.
See also OMIM:615709
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071251171H → R in SAVA; reduced DNA binding activity; increased cell growth; altered expression of genes involved in ossification and notochord maintenance. 1 PublicationCorresponds to variant rs587777303dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6862.
MalaCardsiT.
MIMi182940. phenotype.
215400. phenotype.
615709. phenotype.
OpenTargetsiENSG00000164458.
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.

Polymorphism and mutation databases

BioMutaiT.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001844141 – 435Brachyury proteinAdd BLAST435

Proteomic databases

PaxDbiO15178.
PRIDEiO15178.

PTM databases

iPTMnetiO15178.
PhosphoSitePlusiO15178.

Expressioni

Tissue specificityi

Detected in testis, but not in other, normal tissues. Detected in lung tumors (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000164458.
CleanExiHS_T.
ExpressionAtlasiO15178. baseline and differential.
GenevisibleiO15178. HS.

Organism-specific databases

HPAiHPA003322.

Interactioni

Subunit structurei

Monomer.By similarity

GO - Molecular functioni

Protein-protein interaction databases

STRINGi9606.ENSP00000296946.

Structurei

3D structure databases

ProteinModelPortaliO15178.
SMRiO15178.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG3585. Eukaryota.
ENOG410XSTS. LUCA.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000063663.
HOVERGENiHBG004599.
InParanoidiO15178.
KOiK10172.
OMAiQFFRGSP.
OrthoDBiEOG091G05OC.
PhylomeDBiO15178.
TreeFamiTF106341.

Family and domain databases

CDDicd00182. TBOX. 1 hit.
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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_071251171H → R in SAVA; reduced DNA binding activity; increased cell growth; altered expression of genes involved in ossification and notochord maintenance. 1 PublicationCorresponds to variant rs587777303dbSNPEnsembl.1
Natural variantiVAR_021982177G → D.1 PublicationCorresponds to variant rs2305089dbSNPEnsembl.1
Natural variantiVAR_024656356G → S.Corresponds to variant rs3127328dbSNPEnsembl.1
Natural variantiVAR_063239358V → I.Corresponds to variant rs77703807dbSNPEnsembl.1
Natural variantiVAR_032457367V → M.Corresponds to variant rs35292451dbSNPEnsembl.1
Natural variantiVAR_020250369N → S.Corresponds to variant rs3816300dbSNPEnsembl.1
Natural variantiVAR_032458402E → K.Corresponds to variant rs34517945dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_044795244 – 302WGWLL…NNSPT → S in isoform 2. 1 PublicationAdd BLAST59

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.4. 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.
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.

3D structure databases

ProteinModelPortaliO15178.
SMRiO15178.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000296946.

PTM databases

iPTMnetiO15178.
PhosphoSitePlusiO15178.

Polymorphism and mutation databases

BioMutaiT.

Proteomic databases

PaxDbiO15178.
PRIDEiO15178.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000296946; ENSP00000296946; ENSG00000164458. [O15178-1]
ENST00000366871; ENSP00000355836; ENSG00000164458. [O15178-2]
GeneIDi6862.
KEGGihsa:6862.
UCSCiuc003quu.4. human. [O15178-1]

Organism-specific databases

CTDi6862.
DisGeNETi6862.
GeneCardsiT.
HGNCiHGNC:11515. T.
HPAiHPA003322.
MalaCardsiT.
MIMi182940. phenotype.
215400. phenotype.
601397. gene.
615709. phenotype.
neXtProtiNX_O15178.
OpenTargetsiENSG00000164458.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3585. Eukaryota.
ENOG410XSTS. LUCA.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000063663.
HOVERGENiHBG004599.
InParanoidiO15178.
KOiK10172.
OMAiQFFRGSP.
OrthoDBiEOG091G05OC.
PhylomeDBiO15178.
TreeFamiTF106341.

Enzyme and pathway databases

BioCyciZFISH:HS09084-MONOMER.

Miscellaneous databases

GeneWikiiBrachyury.
GenomeRNAii6862.
PROiO15178.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164458.
CleanExiHS_T.
ExpressionAtlasiO15178. baseline and differential.
GenevisibleiO15178. HS.

Family and domain databases

CDDicd00182. TBOX. 1 hit.
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]
ProtoNetiSearch...

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: November 30, 2016
This is version 140 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.