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Proteins/UNIPROT:O43435

TBX1

Protein·UNIPROT:O43435

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Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development (By similarity). Also involved in craniofacial muscle development (By similarity). Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2 (By similarity). Acts upstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch (By similarity). Required for hair follicle stem cell self-renewal (By similarity). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence..

Function from UniProtKB (O43435), read 2026-09-23. CC BY 4.0.

Curated compounds routed: 0

What the reference databases state

Inferred

Inferred — not reported by a source. Evidence key

GenCC submitters' classifications

4 rows

22q11.2 deletion syndrome has a germline basis in TBX1DiseaseGenCC HGNC:11592|MONDO:0018923Inferred only
conotruncal heart malformations has a germline basis in TBX1DiseaseGenCC HGNC:11592|MONDO:0016581Inferred only
DiGeorge syndrome has a germline basis in TBX1DiseaseGenCC HGNC:11592|MONDO:0008564Inferred only
velocardiofacial syndrome has a germline basis in TBX1DiseaseGenCC HGNC:11592|MONDO:0008644Inferred only

Statements

19 statements

19 statements · 4 reference databases · Subject: TBX1 · Sources: gene ontology, Hetionet, Reactome, WikiPathways

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TBX1 interacts with TERF2ProteinHetionet hetionet:interacts:6899-7014Inferred only
TBX1 participates in 22q11 2 copy number variation syndromePathwayWikiPathways WP4657Inferred only
TBX1 participates in CardiogenesisPathwayReactome R-HSA-9733709Inferred only
TBX1 participates in Developmental BiologyPathwayReactome R-HSA-1266738Inferred only
TBX1 participates in FTO obesity variant mechanismPathwayWikiPathways WP3407Inferred only
TBX1 participates in Heart developmentPathwayWikiPathways WP1591Inferred only
TBX1 participates in Mesodermal commitment pathwayPathwayWikiPathways WP2857Inferred only
TBX1 regulates negative regulation of cell differentiationBiological processgene ontology O43435|GO:0045596Inferred only
TBX1 regulates negative regulation of mesenchymal cell apoptotic processBiological processgene ontology O43435|GO:2001054Inferred only
TBX1 regulates positive regulation of cell population proliferationBiological processgene ontology O43435|GO:0008284Inferred only
TBX1 regulates positive regulation of DNA-templated transcriptionBiological processgene ontology O43435|GO:0045893Inferred only
TBX1 regulates positive regulation of epithelial cell proliferationBiological processgene ontology O43435|GO:0050679Inferred only

Show the remaining 7

TBX1 regulates positive regulation of MAPK cascadeBiological processgene ontology O43435|GO:0043410Inferred only
TBX1 regulates positive regulation of mesenchymal cell proliferationBiological processgene ontology O43435|GO:0002053Inferred only
TBX1 regulates positive regulation of protein phosphorylationBiological processgene ontology O43435|GO:0001934Inferred only
TBX1 regulates positive regulation of tongue muscle cell differentiationBiological processgene ontology O43435|GO:2001037Inferred only
TBX1 regulates positive regulation of transcription by RNA polymerase IIBiological processgene ontology O43435|GO:0045944Inferred only
TBX1 regulates regulation of animal organ morphogenesisBiological processgene ontology O43435|GO:2000027Inferred only
TBX1 regulates regulation of transcription by RNA polymerase IIBiological processgene ontology O43435|GO:0006357Inferred only

Other names

2 names

Resolves to: TBX1

Also called: T-box protein 1Testis-specific T-box protein

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