transforming growth factor beta receptor 1
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Arthrogryposis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownClefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCOVID-19 research
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEhlers Danlos syndrome with a likely monogenic cause
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownInfantile enterocolitis & monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPneumothorax - familial
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown+8 more panels — install the extension to see the full list inline on any page.
Loeys-Dietz syndrome 1
Loeys-Dietz syndrome
multiple self-healing squamous epithelioma
familial thoracic aortic aneurysm and aortic dissection
cancer
Rare disease with thoracic aortic aneurysm and aortic dissection
Alzheimer disease
Parkinson disease
multiple sclerosis
neurodegenerative disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
TGF-beta receptor type-1
Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis (PubMed:33914044). The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFBR1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways. For instance, TGFBR1 induces TRAF6 autoubiquitination which in turn results in MAP3K7 ubiquitination and activation to trigger apoptosis. Also regulates epithelial to mesenchymal transition through a SMAD-independent signaling pathway through PARD6A phosphorylation and activation
TGFBR1 · P36897
Mean pLDDT
84.2/ 100
Confident
503 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
