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TBX1 (T-box transcription factor TBX1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.
Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development. Also involved in craniofacial muscle development. Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2.
Open Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.97, animal model 0.52, genetic association 0.64).
In plain words · TBX1 (T-box transcription factor TBX1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.
TBX1 (T-box transcription factor TBX1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.
Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development. Also involved in craniofacial muscle development.
No product in this corpus aims at TBX1 yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
First described 1997. Earliest sequence paper UniProt cites for the protein: Chieffo et al, Genomics, 1997, "Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene". Source.
Sources: HGNC HGNC:11592 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt O43435 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000184058 (association with cancer (MONDO_0004992) 0.52; (GraphQL API, CC0))
Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development. Also involved in craniofacial muscle development. Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2. Acts upstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch. Required for hair follicle stem cell self-renewal. Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence. Location: Nucleus (UniProt). Locus 22q11.21 (HGNC).
Query for this target: (TITLE:"TBX1" OR ABSTRACT:"TBX1" OR TITLE:"T-box transcription factor 1" OR ABSTRACT:"T-box transcription factor 1" OR TITLE:"T-box transcription factor TBX1" OR ABSTRACT:"T-box transcription factor TBX1" OR TITLE:"CATCH22" OR ABSTRACT:"CATCH22") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about TBX1, not a curated reading list.