2024年12月25日 · TGFBR1 (Transforming Growth Factor Beta Receptor 1) is a Protein Coding gene. Diseases associated with TGFBR1 include Multiple Self-Healing Squamous Epithelioma and Loeys-Dietz Syndrome 1. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and TGFBR2 Kinase Domain Mutants in Cancer.

The TGFBR1 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 1. This receptor transmits signals from the cell surface into the cell through a process called signal transduction.

Focusing on the receptors in events in and beyond TGF-β signaling, we review the membrane trafficking of TGFBRs, the kinase activity of TGFBR1 and 2, the direct interactions between TGFBR2 and other receptors, and the novel roles of TGFBR3.

Gene ID: 7046, updated on 8-Feb-2025. The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein …

The TGFBR1 gene encodes a serine/threonine kinase receptor for transforming growth factor-beta (TGFB1; 190180). Most growth factor receptors are transmembrane tyrosine kinases or are associated with cytoplasmic tyrosine kinases.

2011年10月20日 · TGFβ type 1 receptor (TGFBR1), also known as activin receptor-like kinase 5, is the major type 1 receptor for TGFβ ligands. Tgfbr1 null mice die embryonically, precluding functional characterization of TGFBR1 postnatally.

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 …

Our findings confirm the pathogenic effect of the TGFBR1 mutation in causing TAAD in Loeys–Dietz syndrome and show increased myogenic differentiation of patient fibroblasts. Keywords: Loeys–Dietz syndrome, Myogenic transdifferentiation of fibroblasts, Smooth muscle‐like cells, TGFBR1 mutation, Thoracic aortic aneurysm and aortic ...

2025年2月20日 · Title: TGFβR1 inhibition drives hepatocellular carcinoma proliferation through induction of toll-like-receptor signalling. Exosomes from human adipose-derived mesenchymal stem cells attenuate localized scleroderma fibrosis by the let-7a-5p/TGF-betaR1/Smad axis.

2025年1月4日 · Go to complete Gene record for TGFBR1; Go to Variation Viewer for TGFBR1 variants; Summary. The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase.