UniProtKB - O15178 (TBXT_HUMAN)
Protein
T-box transcription factor T
Gene
TBXT
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 51 – 219 | T-boxPROSITE-ProRule annotationAdd BLAST | 169 |
GO - Molecular functioni
- DNA-binding transcription factor activity Source: ProtInc
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: BHF-UCL
- RNA polymerase II activating transcription factor binding Source: BHF-UCL
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: BHF-UCL
- RNA polymerase II transcription factor binding Source: BHF-UCL
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- anterior/posterior axis specification, embryo Source: ProtInc
- cell fate specification Source: GO_Central
- heart morphogenesis Source: BHF-UCL
- mesoderm development Source: ProtInc
- mesoderm formation Source: GO_Central
- negative regulation of DNA-binding transcription factor activity Source: BHF-UCL
- negative regulation of transcription by RNA polymerase II Source: BHF-UCL
- positive regulation of transcription by RNA polymerase II Source: GO_Central
- positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation Source: BHF-UCL
- primitive streak formation Source: BHF-UCL
- signal transduction Source: ProtInc
- somitogenesis Source: GO_Central
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | O15178 |
SIGNORi | O15178 |
Names & Taxonomyi
Protein namesi | Recommended name: T-box transcription factor TCuratedAlternative name(s): Brachyury proteinCurated Protein T |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11515, TBXT |
MIMi | 601397, gene |
neXtProti | NX_O15178 |
VEuPathDBi | HostDB:ENSG00000164458.9 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
Nucleus
- nuclear chromatin Source: BHF-UCL
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Neural tube defects (NTD)2 Publications
Disease susceptibility is associated with variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082154 | 156 | G → C in NTD; unknown pathological significance. 1 Publication | 1 |
Chordoma (CHDM)1 Publication
Disease susceptibility is associated with variants 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.
Related information in OMIMSacral agenesis with vertebral anomalies (SAVA)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071251 | 171 | H → 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 variantOrganism-specific databases
DisGeNETi | 6862 |
MalaCardsi | TBXT |
MIMi | 182940, phenotype 215400, phenotype 615709, phenotype |
OpenTargetsi | ENSG00000164458 |
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 |
Miscellaneous databases
Pharosi | O15178, Tbio |
Genetic variation databases
BioMutai | T |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000184414 | 1 – 435 | T-box transcription factor TAdd BLAST | 435 |
Proteomic databases
MassIVEi | O15178 |
PaxDbi | O15178 |
PeptideAtlasi | O15178 |
PRIDEi | O15178 |
ProteomicsDBi | 17762 48496 [O15178-1] |
PTM databases
iPTMneti | O15178 |
PhosphoSitePlusi | O15178 |
Expressioni
Tissue specificityi
Detected in testis, but not in other, normal tissues. Detected in lung tumors (at protein level).2 Publications
Gene expression databases
Bgeei | ENSG00000164458, Expressed in embryo and 111 other tissues |
ExpressionAtlasi | O15178, baseline and differential |
Genevisiblei | O15178, HS |
Organism-specific databases
HPAi | ENSG00000164458, Tissue enhanced (parathyroid gland, pituitary gland) |
Interactioni
Subunit structurei
Monomer.
By similarityGO - Molecular functioni
- RNA polymerase II activating transcription factor binding Source: BHF-UCL
- RNA polymerase II transcription factor binding Source: BHF-UCL
Protein-protein interaction databases
ELMi | O15178 |
IntActi | O15178, 1 interactor |
STRINGi | 9606.ENSP00000296946 |
Miscellaneous databases
RNActi | O15178, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | O15178 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Phylogenomic databases
eggNOGi | KOG3585, Eukaryota |
GeneTreei | ENSGT00940000157912 |
InParanoidi | O15178 |
OMAi | HTSMLPM |
OrthoDBi | 1201455at2759 |
PhylomeDBi | O15178 |
TreeFami | TF106341 |
Family and domain databases
CDDi | cd00182, TBOX, 1 hit |
Gene3Di | 2.60.40.820, 1 hit |
InterProi | View 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 |
PANTHERi | PTHR11267, PTHR11267, 1 hit |
Pfami | View protein in Pfam PF00907, T-box, 1 hit |
PRINTSi | PR00938, BRACHYURY PR00937, TBOX |
SMARTi | View protein in SMART SM00425, TBOX, 1 hit |
SUPFAMi | SSF49417, SSF49417, 1 hit |
PROSITEi | View protein in PROSITE PS01283, TBOX_1, 1 hit PS01264, TBOX_2, 1 hit PS50252, TBOX_3, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketJ3KP65 | J3KP65_HUMAN | T-box transcription factor T | TBXT | 436 | Annotation score: | ||
H0YM91 | H0YM91_HUMAN | T-box transcription factor T | TBXT | 243 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082154 | 156 | G → C in NTD; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_071251 | 171 | H → 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_021982 | 177 | G → D1 PublicationCorresponds to variant dbSNP:rs2305089Ensembl. | 1 | |
Natural variantiVAR_024656 | 356 | G → S. Corresponds to variant dbSNP:rs3127328Ensembl. | 1 | |
Natural variantiVAR_063239 | 358 | V → I. Corresponds to variant dbSNP:rs77703807Ensembl. | 1 | |
Natural variantiVAR_032457 | 367 | V → M. Corresponds to variant dbSNP:rs35292451EnsemblClinVar. | 1 | |
Natural variantiVAR_020250 | 369 | N → S. Corresponds to variant dbSNP:rs3816300Ensembl. | 1 | |
Natural variantiVAR_032458 | 402 | E → K. Corresponds to variant dbSNP:rs34517945Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_044795 | 244 – 302 | WGWLL…NNSPT → S in isoform 2. 1 PublicationAdd BLAST | 59 |
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 |
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] |
Genome annotation databases
Ensembli | ENST00000296946; ENSP00000296946; ENSG00000164458 [O15178-1] ENST00000366871; ENSP00000355836; ENSG00000164458 [O15178-2] |
GeneIDi | 6862 |
KEGGi | hsa:6862 |
UCSCi | uc003quu.4, human [O15178-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5QRF | X-ray | 2.03 | A | 41-211 | [»] | |
5QRG | X-ray | 1.95 | A | 41-211 | [»] | |
5QRH | X-ray | 1.81 | A | 41-211 | [»] | |
5QRI | X-ray | 1.83 | A | 41-211 | [»] | |
5QRJ | X-ray | 1.81 | A | 41-211 | [»] | |
5QRK | X-ray | 1.63 | A | 41-211 | [»] | |
5QRL | X-ray | 1.76 | A | 41-211 | [»] | |
5QRM | X-ray | 1.55 | A | 41-211 | [»] | |
5QRN | X-ray | 1.62 | A | 41-211 | [»] | |
5QRO | X-ray | 1.61 | A | 41-211 | [»] | |
5QRP | X-ray | 1.67 | A | 41-211 | [»] | |
5QRQ | X-ray | 2.10 | A | 41-211 | [»] | |
5QRR | X-ray | 1.69 | A | 41-211 | [»] | |
5QRS | X-ray | 2.06 | A | 41-211 | [»] | |
5QRT | X-ray | 1.77 | A | 41-211 | [»] | |
5QRU | X-ray | 1.76 | A | 41-211 | [»] | |
5QRV | X-ray | 1.67 | A | 41-211 | [»] | |
5QRW | X-ray | 1.74 | A | 41-211 | [»] | |
5QRX | X-ray | 1.87 | A | 41-211 | [»] | |
5QRY | X-ray | 1.58 | A | 41-211 | [»] | |
5QRZ | X-ray | 1.96 | A | 41-211 | [»] | |
5QS0 | X-ray | 1.60 | A | 41-211 | [»] | |
5QS1 | X-ray | 1.66 | A | 41-211 | [»] | |
5QS2 | X-ray | 1.68 | A | 41-211 | [»] | |
5QS3 | X-ray | 1.71 | A | 41-211 | [»] | |
5QS4 | X-ray | 1.65 | A | 41-211 | [»] | |
5QS5 | X-ray | 1.81 | A | 41-211 | [»] | |
5QS6 | X-ray | 1.67 | A | 41-211 | [»] | |
5QS7 | X-ray | 1.66 | A | 41-211 | [»] | |
5QS8 | X-ray | 1.47 | A | 41-211 | [»] | |
5QS9 | X-ray | 1.43 | A | 41-211 | [»] | |
5QSA | X-ray | 1.55 | A | 41-211 | [»] | |
5QSB | X-ray | 1.82 | A | 41-211 | [»] | |
5QSC | X-ray | 1.62 | A | 41-211 | [»] | |
5QSD | X-ray | 1.87 | A | 41-211 | [»] | |
5QSE | X-ray | 2.01 | A | 41-211 | [»] | |
5QSF | X-ray | 1.96 | A | 41-211 | [»] | |
5QSG | X-ray | 1.87 | A | 41-211 | [»] | |
5QSH | X-ray | 1.90 | A | 41-211 | [»] | |
5QSI | X-ray | 1.64 | A | 41-211 | [»] | |
5QSJ | X-ray | 1.49 | A | 41-211 | [»] | |
5QSK | X-ray | 1.55 | A | 41-211 | [»] | |
5QSL | X-ray | 2.20 | A | 41-211 | [»] | |
5QT0 | X-ray | 2.10 | A | 41-211 | [»] | |
6F58 | X-ray | 2.25 | A/B | 40-224 | [»] | |
6F59 | X-ray | 2.15 | A/B | 41-224 | [»] | |
6ZU8 | X-ray | 1.95 | A | 41-224 | [»] | |
SMRi | O15178 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
ELMi | O15178 |
IntActi | O15178, 1 interactor |
STRINGi | 9606.ENSP00000296946 |
PTM databases
iPTMneti | O15178 |
PhosphoSitePlusi | O15178 |
Genetic variation databases
BioMutai | T |
Proteomic databases
MassIVEi | O15178 |
PaxDbi | O15178 |
PeptideAtlasi | O15178 |
PRIDEi | O15178 |
ProteomicsDBi | 17762 48496 [O15178-1] |
Protocols and materials databases
Antibodypediai | 925, 452 antibodies |
Genome annotation databases
Ensembli | ENST00000296946; ENSP00000296946; ENSG00000164458 [O15178-1] ENST00000366871; ENSP00000355836; ENSG00000164458 [O15178-2] |
GeneIDi | 6862 |
KEGGi | hsa:6862 |
UCSCi | uc003quu.4, human [O15178-1] |
Organism-specific databases
CTDi | 6862 |
DisGeNETi | 6862 |
GeneCardsi | TBXT |
HGNCi | HGNC:11515, TBXT |
HPAi | ENSG00000164458, Tissue enhanced (parathyroid gland, pituitary gland) |
MalaCardsi | TBXT |
MIMi | 182940, phenotype 215400, phenotype 601397, gene 615709, phenotype |
neXtProti | NX_O15178 |
OpenTargetsi | ENSG00000164458 |
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 |
VEuPathDBi | HostDB:ENSG00000164458.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3585, Eukaryota |
GeneTreei | ENSGT00940000157912 |
InParanoidi | O15178 |
OMAi | HTSMLPM |
OrthoDBi | 1201455at2759 |
PhylomeDBi | O15178 |
TreeFami | TF106341 |
Enzyme and pathway databases
PathwayCommonsi | O15178 |
SIGNORi | O15178 |
Miscellaneous databases
BioGRID-ORCSi | 6862, 5 hits in 892 CRISPR screens |
GeneWikii | Brachyury |
GenomeRNAii | 6862 |
Pharosi | O15178, Tbio |
PROi | PR:O15178 |
RNActi | O15178, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000164458, Expressed in embryo and 111 other tissues |
ExpressionAtlasi | O15178, baseline and differential |
Genevisiblei | O15178, HS |
Family and domain databases
CDDi | cd00182, TBOX, 1 hit |
Gene3Di | 2.60.40.820, 1 hit |
InterProi | View 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 |
PANTHERi | PTHR11267, PTHR11267, 1 hit |
Pfami | View protein in Pfam PF00907, T-box, 1 hit |
PRINTSi | PR00938, BRACHYURY PR00937, TBOX |
SMARTi | View protein in SMART SM00425, TBOX, 1 hit |
SUPFAMi | SSF49417, SSF49417, 1 hit |
PROSITEi | View protein in PROSITE PS01283, TBOX_1, 1 hit PS01264, TBOX_2, 1 hit PS50252, TBOX_3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TBXT_HUMAN | |
Accessioni | O15178Primary (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: | February 10, 2021 | |
This is version 172 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references