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Protein Page:
Brachyury (human)

Brachyury 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. Genetic variations in T are associated with susceptibility to neural tube defects (NTD). NTD are common congenital malformations. Spina bifida, which results from malformations in the caudal region of the neural tube, is compatible with life but associated with significant morbidity, including lower limb paralysis. T is involved in susceptibility to the development of chordoma (CHDM). Chordomas are 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. Susceptibility to development of chordomas is due to a T gene duplication. Note: This description may include information from UniProtKB.
Protein type: Transcription factor; DNA-binding; Motility/polarity/chemotaxis; Cell cycle regulation
Chromosomal Location of Human Ortholog: 6q27
Cellular Component: cytoplasm; nuclear chromatin; nucleus
Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; transcription factor activity
Biological Process: heart morphogenesis; somitogenesis; transcription, DNA-dependent; neural plate morphogenesis; embryonic skeletal development; mesoderm migration; notochord formation; Wnt receptor signaling pathway through beta-catenin; negative regulation of transcription from RNA polymerase II promoter; signal transduction; BMP signaling pathway; determination of anterior/posterior axis, embryo; neural tube closure; positive regulation of cell proliferation; penetration of zona pellucida; mesoderm development; vasculogenesis
Disease: Neural Tube Defects; Sacral Agenesis With Vertebral Anomalies
Reference #:  O15178 (UniProtKB)
Alt. Names/Synonyms: BRAC; brachyury protein; MGC104817; OTTHUMP00000017588; T; T brachyury; T brachyury-like; T, brachyury homolog (mouse); TFT; transcription factor T
Gene Symbols: T
Molecular weight: 47,443 Da
Basal Isoelectric point: 6.62  Predict pI for various phosphorylation states
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0 1 S431-p IASWTPVsPPSM___

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