TGFBR1
TGFBR1 Gene 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. 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]
Details
| Type | Protein Coding |
| Official Symbol | TGFBR1 |
| Official Name | transforming growth factor beta receptor 1 [Source:HGNC Symbol;Acc:HGNC:11772] |
| Ensembl ID | ENSG00000106799 |
| Bio databases IDs | |
| Aliases | transforming growth factor beta receptor 1, activin A receptor type II-like kinase, 53kDa |
| Synonyms | AAT5,ACVRLK4,ALK-5,AU017191,ESK2,ESS1,LDS1,LDS1A,LDS2A,LOC103690035,LOC666236,MSSE,SKR4,TbetaR-I,TBR-I,TGFbeta1R1,TGF-beta1 receptor,TGF beta I receptor,Tgf-beta-r1,TGF beta receptor type I,TGFbetaRI,Tgfb receptor I,TGFR-1,TGFβ1R1,TGF β I receptor,TGFβR1,Tgf -β R1/R4,Tgf-β receptor1,TGF β receptor type I,TGFβRI,TGF β type 1 receptors,Tgf β type i receptor,transforming growth factor beta receptor 1,transforming growth factor, beta receptor 1,transforming growth factor, beta receptor I,transforming growth factor β receptor 1,transforming growth factor, β receptor 1,transforming growth factor, β receptor I,transforming growth factor-β receptor type 1,T β R1 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SMAD binding
- protein serine/threonine kinase
- punt binding
- protein kinase
- Activin types I and II receptor domain
- smad binding domain
- ATP binding
- TGFbeta binding
- Protein kinase domain
- transforming growth factor-beta receptor
- transmembrane receptor protein serine/threonine kinase
- cytoplasmic domain
- intracellular domain
- tail domain
- membrane-proximal domain
- TFP
- Tyrosine kinase, catalytic domain
- growth factor binding
- transmembrane receptor
- ubiquitin protein ligase binding
- extracellular domain
- Protein kinase (unclassified specificity)
- Protein tyrosine and serine/threonine kinase
- serine/threonine kinase domain
- protein binding
- receptor binding
- kinase
- TRAF6 binding domain
- Serine/Threonine protein kinases, catalytic domain
- L45 loop domain
- kinase domain
- binding protein
- Protein Kinases, catalytic domain
- type I transforming growth factor-beta receptor
- transmembrane domain
- Transforming growth factor beta type I GS-motif
- cytosolic tail domain
- glycine serine rich domain
Pathways
Biological processes and signaling networks where the TGFBR1 gene plays a role, providing insight into its function and relevance in health or disease.
- Antiproliferative Role of TOB in T Cell Signaling
- Epithelial Adherens Junction Signaling
- Factors Promoting Cardiogenesis in Vertebrates
- GADD45 Signaling
- Germ Cell-Sertoli Cell Junction Signaling
- Glucocorticoid Receptor Signaling
- Hepatic Fibrosis / Hepatic Stellate Cell Activation
- Inhibition of Angiogenesis by TSP1
- NF-κB Signaling
- p38 MAPK Signaling
- Pancreatic Adenocarcinoma Signaling
- Protein Kinase A Signaling
- PTEN Signaling
- Regulation of IL-2 Expression in Activated and Anergic T Lymphocytes
- Regulation of the Epithelial-Mesenchymal Transition Pathway
- Role of Tissue Factor in Cancer
- SPINK1 Pancreatic Cancer Pathway
- STAT3 Pathway
- T Helper Cell Differentiation
- TGF-β Signaling
- Th1 and Th2 Activation Pathway
- Th2 Pathway
- Tight Junction Signaling
- WNT/β-catenin Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
- TGFBR2
- CAV1
- FBXO34
- NUP37
- ITCH
- STRAP
- USP11
- miR-29b-3p (and other miRNAs w/seed AGCACCA)
- ACVR2B
- OCLN
disease
- breast cancer
- motor dysfunction
- fibrosis
- ovarian cancer
- neoplasia
- age-related macular degeneration
- chronic epilepsy
- Loeys-Dietz syndrome type 1
- Loeys-Dietz syndrome
- cough
regulated by
- lipopolysaccharide
- CD274
- NME1
- tetradecanoylphorbol acetate
- IL4
- ESR2
- tetrodotoxin
- TNF
- TGFB1
- PKM
regulates
- PEPCK
- CCND1
- JNK
- CDKN1A
- NFkB (complex)
- MAP3K7
- IL1B
- IL6
- HMOX1
- CCL2
role in cell
- growth
- number
- activation in
- apoptosis
- degeneration
- quantity
- phosphorylation in
- expression in
- cellular infiltration by
- adhesion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- cytoskeleton
- Cytoplasm
- cilia
- cell surface
- membrane surface
- cellular membrane
- Nucleus
- endosomes
- vesicles
- cytosol
- caveolar membranes
- apical membrane
- caveolae
- basolateral membrane
- nucleoplasm
- rough endoplasmatic reticulum
- tight junctions
- membrane rafts
- cortical vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the TGFBR1 gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- male gonad development
- regulation of cardiac muscle cell proliferation
- post-embryonic development
- anterior/posterior pattern specification
- positive regulation of filopodium assembly
- transforming growth factor beta receptor signaling pathway
- endothelial cell migration
- lens development in camera-type eye
- activin receptor signaling pathway
- positive regulation of cell growth
- wound healing
- skeletal system development
- positive regulation of transcription, DNA-dependent
- kidney development
- in utero embryonic development
- mesenchymal cell differentiation
- apoptotic process
- blastocyst development
- regulation of protein ubiquitination
- regulation of cell cycle
- intracellular signal transduction
- response to cholesterol
- artery morphogenesis
- cardiac epithelial to mesenchymal transition
- germ cell migration
- proepicardium development
- pharyngeal system development
- ventricular trabecula myocardium morphogenesis
- ventricular compact myocardium morphogenesis
- cellular response to transforming growth factor beta stimulus
- positive regulation of stress fiber assembly
- cellular response to growth factor stimulus
- positive regulation of gene expression
- epithelial to mesenchymal transition
- peptidyl-serine phosphorylation
- positive regulation of protein kinase B signaling cascade
- negative regulation of cell migration
- positive regulation of cell migration
- endothelial cell activation
- coronary artery morphogenesis
- positive regulation of cell proliferation
- palate development
- nervous system development
- protein phosphorylation
- thymus development
- positive regulation of epithelial to mesenchymal transition
- heart development
- regulation of epithelial to mesenchymal transition
- neuron fate commitment
- positive regulation of SMAD protein import into nucleus
- signal transduction
- embryonic cranial skeleton morphogenesis
- regulation of transcription, DNA-dependent
- angiogenesis involved in coronary vascular morphogenesis
- skeletal system morphogenesis
- filopodium assembly
- ventricular septum morphogenesis
- parathyroid gland development
- cell motility
- extracellular structure organization
- endothelial cell proliferation
- negative regulation of extrinsic apoptotic signaling pathway
- negative regulation of chondrocyte differentiation
- negative regulation of endothelial cell proliferation
- positive regulation of endothelial cell proliferation
- collagen fibril organization
- positive regulation of apoptotic signaling pathway
CELLULAR COMPONENT
Where in the cell the gene product is active
- nucleus
- tight junction
- endosome
- activin receptor complex
- transforming growth factor beta1-type II receptor-type I receptor complex
- membrane raft
- receptor complex
- plasma membrane
- cell surface
MOLECULAR FUNCTION
What the gene product does at the molecular level
- growth factor binding
- protein kinase activity
- transforming growth factor beta-activated receptor activity
- type II transforming growth factor beta receptor binding
- protein serine/threonine kinase activity
- transforming growth factor beta receptor activity, type I
- transmembrane receptor protein serine/threonine kinase activity
- transforming growth factor beta binding
- ATP binding
- protein binding
- ubiquitin protein ligase binding
- activin binding
- SMAD binding
- metal ion binding
- activin receptor activity, type I
- I-SMAD binding