Aliases for TGFBR1 Gene
- Transforming Growth Factor Beta Receptor 1 2 3 5
- Activin A Receptor Type II-Like Protein Kinase Of 53kD 3 4
- Transforming Growth Factor-Beta Receptor Type I 3 4
- Activin A Receptor Type II-Like Kinase, 53kDa 2 3
- Serine/Threonine-Protein Kinase Receptor R4 3 4
- Transforming Growth Factor Beta Receptor I 2 3
- Activin Receptor-Like Kinase 5 3 4
- EC 22.214.171.124 4 61
- TbetaR-I 3 4
- TGFR-1 3 4
- ALK-5 3 4
- ALK5 3 4
- SKR4 3 4
- Mutant Transforming Growth Factor Beta Receptor I 3
External Ids for TGFBR1 Gene
Previous HGNC Symbols for TGFBR1 Gene
Previous GeneCards Identifiers for TGFBR1 Gene
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. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
GeneCards Summary for TGFBR1 Gene
TGFBR1 (Transforming Growth Factor Beta Receptor 1) is a Protein Coding gene. Diseases associated with TGFBR1 include Multiple Self-Healing Squamous Epithelioma, Susceptiblity To and Loeys-Dietz Syndrome 1. Among its related pathways are PEDF Induced Signaling and SMAD2/3 MH2 Domain Mutants in Cancer. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is ACVR1B.
UniProtKB/Swiss-Prot for TGFBR1 Gene
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. 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.
The transforming growth factor-beta family of polypeptides (TGF-beta1-3) are involved in the regulation of cellular processes, including division, differentiation, motility, adhesion and death. TGF-beta signals by binding the type II receptor (TGF-betaRII) which activates the type I receptor (TGF-betaRI).