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Protein

T-box transcription factor T

Gene

TBXT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi51 – 219T-boxPROSITE-ProRule annotationAdd BLAST169

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiO15178

Names & Taxonomyi

Protein namesi
Recommended name:
T-box transcription factor TCurated
Alternative name(s):
Brachyury proteinCurated
Protein T
Gene namesi
Name:TBXTImported
Synonyms:T
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000164458.9
HGNCiHGNC:11515 TBXT
MIMi601397 gene
neXtProtiNX_O15178

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs587777303EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6862
MalaCardsiTBXT
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 – 435T-box transcription factor TAdd BLAST435

Proteomic databases

PaxDbiO15178
PeptideAtlasiO15178
PRIDEiO15178
ProteomicsDBi48496

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 Expressed in 99 organ(s), highest expression level in embryo
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

ELMiO15178
IntActiO15178, 1 interactor
STRINGi9606.ENSP00000296946

Structurei

Secondary structure

1435
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO15178
SMRiO15178
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG3585 Eukaryota
ENOG410XSTS LUCA
GeneTreeiENSGT00900000140847
HOGENOMiHOG000063663
HOVERGENiHBG004599
InParanoidiO15178
KOiK10172
OMAiPDSQYDA
OrthoDBiEOG091G05OC
PhylomeDBiO15178
TreeFamiTF106341

Family and domain databases

CDDicd00182 TBOX, 1 hit
Gene3Di2.60.40.820, 1 hit
InterProiView protein in InterPro
IPR008967 p53-like_TF_DNA-bd
IPR036960 T-box_sf
IPR002070 TF_Brachyury
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PRINTSiPR00938 BRACHYURY
PR00937 TBOX
SMARTiView protein in SMART
SM00425 TBOX, 1 hit
SUPFAMiSSF49417 SSF49417, 1 hit
PROSITEiView protein in PROSITE
PS01283 TBOX_1, 1 hit
PS01264 TBOX_2, 1 hit
PS50252 TBOX_3, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KP65J3KP65_HUMAN
T-box transcription factor T
TBXT
403Annotation score:
H0YM91H0YM91_HUMAN
T-box transcription factor T
TBXT
243Annotation score:

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 dbSNP:rs587777303EnsemblClinVar.1
Natural variantiVAR_021982177G → D1 PublicationCorresponds to variant dbSNP:rs2305089Ensembl.1
Natural variantiVAR_024656356G → S. Corresponds to variant dbSNP:rs3127328Ensembl.1
Natural variantiVAR_063239358V → I. Corresponds to variant dbSNP:rs77703807Ensembl.1
Natural variantiVAR_032457367V → M. Corresponds to variant dbSNP:rs35292451Ensembl.1
Natural variantiVAR_020250369N → S. Corresponds to variant dbSNP:rs3816300Ensembl.1
Natural variantiVAR_032458402E → K. Corresponds to variant dbSNP:rs34517945Ensembl.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 No translation available.
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

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ001699 mRNA Translation: CAA04938.1
AL627443 Genomic DNA No translation available.
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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6F58X-ray2.25A/B40-224[»]
6F59X-ray2.15A/B41-224[»]
ProteinModelPortaliO15178
SMRiO15178
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

ELMiO15178
IntActiO15178, 1 interactor
STRINGi9606.ENSP00000296946

PTM databases

iPTMnetiO15178
PhosphoSitePlusiO15178

Polymorphism and mutation databases

BioMutaiT

Proteomic databases

PaxDbiO15178
PeptideAtlasiO15178
PRIDEiO15178
ProteomicsDBi48496

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
EuPathDBiHostDB:ENSG00000164458.9
GeneCardsiTBXT
HGNCiHGNC:11515 TBXT
HPAiHPA003322
MalaCardsiTBXT
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
GeneTreeiENSGT00900000140847
HOGENOMiHOG000063663
HOVERGENiHBG004599
InParanoidiO15178
KOiK10172
OMAiPDSQYDA
OrthoDBiEOG091G05OC
PhylomeDBiO15178
TreeFamiTF106341

Enzyme and pathway databases

SIGNORiO15178

Miscellaneous databases

GeneWikiiBrachyury
GenomeRNAii6862
PROiPR:O15178
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164458 Expressed in 99 organ(s), highest expression level in embryo
CleanExiHS_T
ExpressionAtlasiO15178 baseline and differential
GenevisibleiO15178 HS

Family and domain databases

CDDicd00182 TBOX, 1 hit
Gene3Di2.60.40.820, 1 hit
InterProiView protein in InterPro
IPR008967 p53-like_TF_DNA-bd
IPR036960 T-box_sf
IPR002070 TF_Brachyury
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PRINTSiPR00938 BRACHYURY
PR00937 TBOX
SMARTiView protein in SMART
SM00425 TBOX, 1 hit
SUPFAMiSSF49417 SSF49417, 1 hit
PROSITEiView protein in PROSITE
PS01283 TBOX_1, 1 hit
PS01264 TBOX_2, 1 hit
PS50252 TBOX_3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTBXT_HUMAN
AccessioniPrimary (citable) accession number: O15178
Secondary accession number(s): E7ERD6, Q4KMP4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 1, 1998
Last modified: November 7, 2018
This is version 156 of the entry and version 1 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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