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Brachyury (human)

Overview 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: DNA binding protein; Transcription factor; Cell cycle regulation; Motility/polarity/chemotaxis Cellular Component: nuclear chromatin; cytoplasm Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; transcription factor activity Biological Process: heart morphogenesis; somitogenesis; 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; cardiac muscle cell differentiation; BMP signaling pathway; determination of anterior/posterior axis, embryo; positive regulation of cell proliferation; neural tube closure; penetration of zona pellucida; mesoderm development; vasculogenesis 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 Protein-Specific Antibodies or siRNAs from Cell Signaling Technology®

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	Modification Sites and Domains

	Modification Sites in Parent Protein, Orthologs, and Isoforms

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		S431-p	IASWTPVsPPSM___

	mouse
S432	IASWTPVSPPSM___

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