InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: T

Summary

InnateDB Protein

IDBP-98924.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Protein Name

T, brachyury homolog (mouse)

Synonyms

SAVA; TFT;

Species

Homo sapiens

Ensembl Protein

ENSP00000296946

InnateDB Gene

IDBG-98920 (T)

Protein Structure

UniProt Annotation

Function

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.

Subcellular Localization

Nucleus.

Disease Associations

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. {ECO:0000269PubMed:15449172}. 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. {ECO:0000269PubMed:19801981}. 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.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0001085	RNA polymerase II transcription factor binding
GO:0001102	RNA polymerase II activating transcription factor binding
GO:0001191	RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001570	vasculogenesis
GO:0001756	somitogenesis
GO:0001839	neural plate morphogenesis
GO:0001843	neural tube closure
GO:0003007	heart morphogenesis
GO:0003257	positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation
GO:0006355	regulation of transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0007165	signal transduction
GO:0007341	penetration of zona pellucida
GO:0007498	mesoderm development
GO:0007509	mesoderm migration involved in gastrulation
GO:0008284	positive regulation of cell proliferation
GO:0008595	anterior/posterior axis specification, embryo
GO:0009653	anatomical structure morphogenesis
GO:0009952	anterior/posterior pattern specification
GO:0014028	notochord formation
GO:0022414	reproductive process
GO:0023019	signal transduction involved in regulation of gene expression
GO:0030509	BMP signaling pathway
GO:0030903	notochord development
GO:0036342	post-anal tail morphogenesis
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048706	embryonic skeletal system development
GO:0060070	canonical Wnt signaling pathway
GO:0060349	bone morphogenesis
GO:0060395	SMAD protein signal transduction
GO:0061371	determination of heart left/right asymmetry
GO:0090009	primitive streak formation