Entity Details

Primary name TBXT_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO15178
EntryNameTBXT_HUMAN
FullNameT-box transcription factor T
TaxID9606
Evidenceevidence at protein level
Length435
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesTBXT

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001707 mesoderm formation
GO:0001708 cell fate specification
GO:0001756 somitogenesis
GO:0003007 heart morphogenesis
GO:0003257 positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007165 signal transduction
GO:0007498 mesoderm development
GO:0008595 anterior/posterior axis specification, embryo
GO:0043433 negative regulation of DNA-binding transcription factor activity
GO:0090009 primitive streak formation
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001699 Transcription factor, T-boxFamilyFamily
IPR002070 Transcription factor, BrachyuryFamilyFamily
IPR008967 p53-like transcription factor, DNA-bindingFamilyHomologous superfamily
IPR018186 Transcription factor, T-box, conserved siteSiteConserved site
IPR036960 T-box superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615709 OMIMSacral agenesis with vertebral anomalies (SAVA)A disorder characterized by abnormalities of the spine, including sacral agenesis, abnormal ossification of all vertebral bodies, and a persistent notochordal canal during development. The disease is caused by variants affecting the gene represented in this entry.
182940 OMIMNeural tube defects (NTD)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. Disease susceptibility is associated with variants affecting the gene represented in this entry.
215400 OMIMChordoma (CHDM)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. 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.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
TBXT_HUMANMIXL1_HUMANUniProt22164283 details