======= TGFBR1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: TGFBR1
  * **<color #00a2e8>Official Name</color>**: transforming growth factor beta receptor 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=7046|7046]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P36897|P36897]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=TGFBR1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20TGFBR1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/190181|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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. {ECO:0000269|PubMed:15761148, ECO:0000269|PubMed:16754747, ECO:0000269|PubMed:18758450, ECO:0000269|PubMed:7774578, ECO:0000269|PubMed:8752209, ECO:0000269|PubMed:8980228, ECO:0000269|PubMed:9346908}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|TGF beta GS|
|Pkinase Tyr|
|Pkinase|
|Activin recp|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|regulation of tight junction disassembly|
|positive regulation of tight junction disassembly|
|epicardium morphogenesis|
|proepicardium development|
|septum transversum development|
|angiogenesis involved in coronary vascular morphogenesis|
|positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation|
|parathyroid gland development|
|transforming growth factor beta receptor activity, type I|
|type II transforming growth factor beta receptor binding|
|activin receptor complex|
|regulation of epithelial to mesenchymal transition involved in endocardial cushion formation|
|ventricular compact myocardium morphogenesis|
|positive regulation of cardiac epithelial to mesenchymal transition|
|coronary artery morphogenesis|
|germ cell migration|
|endothelial cell activation|
|regulation of cardiac epithelial to mesenchymal transition|
|I-SMAD binding|
|positive regulation of SMAD protein signal transduction|
|pathway-restricted SMAD protein phosphorylation|
|activin binding|
|transforming growth factor beta-activated receptor activity|
|ventricular trabecula myocardium morphogenesis|
|coronary vasculature morphogenesis|
|regulation of SMAD protein signal transduction|
|negative regulation of chondrocyte differentiation|
|transforming growth factor beta binding|
|activin receptor signaling pathway|
|response to cholesterol|
|pharyngeal system development|
|negative regulation of cartilage development|
|cardiac epithelial to mesenchymal transition|
|positive regulation of filopodium assembly|
|response to sterol|
|growth factor binding|
|heart trabecula morphogenesis|
|negative regulation of endothelial cell proliferation|
|regulation of cardiac muscle cell proliferation|
|regulation of heart morphogenesis|
|ventricular septum morphogenesis|
|thymus development|
|regulation of filopodium assembly|
|coronary vasculature development|
|trabecula morphogenesis|
|embryonic cranial skeleton morphogenesis|
|positive regulation of epithelial to mesenchymal transition|
|collagen fibril organization|
|ventricular cardiac muscle tissue morphogenesis|
|positive regulation of pathway-restricted SMAD protein phosphorylation|
|regulation of chondrocyte differentiation|
|positive regulation of stress fiber assembly|
|SMAD binding|
|activation of MAPKK activity|
|ventricular cardiac muscle tissue development|
|regulation of cardiac muscle tissue growth|
|positive regulation of actin filament bundle assembly|
|artery morphogenesis|
|regulation of pathway-restricted SMAD protein phosphorylation|
|regulation of heart growth|
|neuron fate commitment|
|endothelial cell migration|
|cranial skeletal system development|
|cardiac muscle tissue morphogenesis|
|epithelial to mesenchymal transition|
|regulation of cartilage development|
|ventricular septum development|
|cardiac septum morphogenesis|
|cardiac ventricle morphogenesis|
|negative regulation of transforming growth factor beta receptor signaling pathway|
|negative regulation of cellular response to transforming growth factor beta stimulus|
|lens development in camera-type eye|
|regulation of stress fiber assembly|
|regulation of cardiac muscle tissue development|
|muscle tissue morphogenesis|
|positive regulation of animal organ morphogenesis|
|peptidyl-threonine phosphorylation|
|regulation of epithelial to mesenchymal transition|
|epithelial cell migration|
|artery development|
|epithelium migration|
|muscle organ morphogenesis|
|post-embryonic development|
|regulation of actomyosin structure organization|
|roof of mouth development|
|peptidyl-threonine modification|
|regulation of actin filament bundle assembly|
|positive regulation of endothelial cell proliferation|
|tissue migration|
|regulation of organ growth|
|embryonic skeletal system morphogenesis|
|blastocyst development|
|positive regulation of plasma membrane bounded cell projection assembly|
|negative regulation of extrinsic apoptotic signaling pathway|
|transforming growth factor beta receptor signaling pathway|
|positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|cardiac septum development|
|regulation of transforming growth factor beta receptor signaling pathway|
|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|regulation of cellular response to transforming growth factor beta stimulus|
|endocrine system development|
|bicellular tight junction|
|negative regulation of epithelial cell proliferation|
|embryonic skeletal system development|
|cardiac chamber morphogenesis|
|cardiac ventricle development|
|regulation of endothelial cell proliferation|
|regulation of striated muscle tissue development|
|male gonad development|
|regulation of muscle tissue development|
|development of primary male sexual characteristics|
|regulation of muscle organ development|
|cell cycle arrest|
|negative regulation of cellular response to growth factor stimulus|
|regulation of extrinsic apoptotic signaling pathway|
|cellular response to transforming growth factor beta stimulus|
|mesenchymal cell differentiation|
|male sex differentiation|
|response to transforming growth factor beta|
|cardiac muscle tissue development|
|positive regulation of cell growth|
|positive regulation of protein kinase B signaling|
|cardiac chamber development|
|ameboidal-type cell migration|
|positive regulation of apoptotic signaling pathway|
|peptidyl-serine phosphorylation|
|positive regulation of epithelial cell proliferation|
|positive regulation of supramolecular fiber organization|
|transmembrane receptor protein serine/threonine kinase signaling pathway|
|peptidyl-serine modification|
|regulation of protein ubiquitination|
|regulation of plasma membrane bounded cell projection assembly|
|regulation of cell projection assembly|
|receptor complex|
|gonad development|
|development of primary sexual characteristics|
|anterior/posterior pattern specification|
|regulation of protein binding|
|regulation of protein kinase B signaling|
|positive regulation of cytoskeleton organization|
|mesenchyme development|
|membrane raft|
|negative regulation of apoptotic signaling pathway|
|regulation of protein modification by small protein conjugation or removal|
|response to alcohol|
|regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|skeletal system morphogenesis|
|protein kinase activity|
|cell fate commitment|
|heart morphogenesis|
|regulation of animal organ morphogenesis|
|positive regulation of growth|
|regulation of actin filament organization|
|positive regulation of MAP kinase activity|
|sex differentiation|
|kidney development|
|endosome|
|regulation of cellular response to growth factor stimulus|
|protein deubiquitination|
|striated muscle tissue development|
|renal system development|
|embryonic organ morphogenesis|
|muscle organ development|
|muscle tissue development|
|protein modification by small protein removal|
|camera-type eye development|
|angiogenesis|
|urogenital system development|
|activation of protein kinase activity|
|regulation of developmental growth|
|regionalization|
|regulation of epithelial cell proliferation|
|positive regulation of protein serine/threonine kinase activity|
|extracellular matrix organization|
|regulation of MAP kinase activity|
|regulation of actin cytoskeleton organization|
|regulation of supramolecular fiber organization|
|cellular process involved in reproduction in multicellular organism|
|eye development|
|visual system development|
|protein serine/threonine kinase activity|
|sensory system development|
|regulation of binding|
|in utero embryonic development|
|positive regulation of cell projection organization|
|extracellular structure organization|
|regulation of actin filament-based process|
|regulation of apoptotic signaling pathway|
|blood vessel morphogenesis|
|gland development|
|regulation of cell growth|
|reproductive structure development|
|reproductive system development|
|embryonic organ development|
|pattern specification process|
|supramolecular fiber organization|
|muscle structure development|
|wound healing|
|blood vessel development|
|skeletal system development|
|positive regulation of cell migration|
|cellular response to growth factor stimulus|
|vasculature development|
|regulation of protein serine/threonine kinase activity|
|cardiovascular system development|
|positive regulation of cellular component biogenesis|
|positive regulation of cell motility|
|heart development|
|response to growth factor|
|positive regulation of protein kinase activity|
|positive regulation of cellular component movement|
|regulation of cytoskeleton organization|
|positive regulation of MAPK cascade|
|sensory organ development|
|positive regulation of locomotion|
|tissue morphogenesis|
|embryonic morphogenesis|
|response to wounding|
|negative regulation of cell cycle|
|positive regulation of kinase activity|
|hematopoietic or lymphoid organ development|
|cell surface|
|positive regulation of organelle organization|
|chordate embryonic development|
|positive regulation of apoptotic process|
|immune system development|
|positive regulation of programmed cell death|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|positive regulation of transferase activity|
|developmental process involved in reproduction|
|regulation of growth|
|negative regulation of cell population proliferation|
|intracellular membrane-bounded organelle|
|gamete generation|
|regulation of plasma membrane bounded cell projection organization|
|positive regulation of cell death|
|regulation of cell projection organization|
|negative regulation of cell differentiation|
|enzyme linked receptor protein signaling pathway|
|regulation of MAPK cascade|
|regulation of protein kinase activity|
|multicellular organismal reproductive process|
|sexual reproduction|
|multicellular organism reproduction|
|tube development|
|regulation of cell migration|
|response to lipid|
|circulatory system development|
|regulation of kinase activity|
|peptidyl-amino acid modification|
|negative regulation of apoptotic process|
|anatomical structure formation involved in morphogenesis|
|negative regulation of programmed cell death|
|regulation of cell motility|
|positive regulation of cell population proliferation|
|response to organic cyclic compound|
|apoptotic process|
|negative regulation of developmental process|
|animal organ morphogenesis|
|regulation of cellular component biogenesis|
|cell migration|
|positive regulation of cell differentiation|
|protein phosphorylation|
|regulation of transferase activity|
|embryo development|
|regulation of locomotion|
|protein modification by small protein conjugation or removal|
|regulation of cellular component movement|
|negative regulation of cell death|
|multi-organism reproductive process|
|cell cycle process|
|neuron differentiation|
|positive regulation of protein phosphorylation|
|positive regulation of intracellular signal transduction|
|programmed cell death|
|positive regulation of phosphorylation|
|regulation of anatomical structure morphogenesis|
|cell activation|
|localization of cell|
|cell motility|
|cell death|
|positive regulation of phosphate metabolic process|
|positive regulation of phosphorus metabolic process|
|regulation of cell cycle|
|negative regulation of multicellular organismal process|
|positive regulation of cellular component organization|
|cellular response to endogenous stimulus|
|positive regulation of protein modification process|
|negative regulation of signal transduction|
|proteolysis|
|phosphorylation|
|regulation of organelle organization|
|locomotion|
|cell cycle|
|negative regulation of cell communication|
|negative regulation of signaling|
|positive regulation of developmental process|
|integral component of plasma membrane|
|reproductive process|
|reproduction|
|positive regulation of catalytic activity|
|regulation of protein phosphorylation|
|response to endogenous stimulus|
|ATP binding|
|generation of neurons|
|regulation of apoptotic process|
|positive regulation of transcription, DNA-templated|
|movement of cell or subcellular component|
|response to oxygen-containing compound|
|regulation of programmed cell death|
|regulation of phosphorylation|
|positive regulation of cellular protein metabolic process|
|regulation of cell population proliferation|
|negative regulation of response to stimulus|
|neurogenesis|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|positive regulation of signal transduction|
|regulation of cell death|
|intracellular signal transduction|
|positive regulation of protein metabolic process|
|positive regulation of RNA metabolic process|
|positive regulation of multicellular organismal process|
|tissue development|
|positive regulation of molecular function|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of cell differentiation|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|regulation of protein modification process|
|protein-containing complex subunit organization|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp504|MK2206 4μM R08 exp504]]|1.7|
|[[:results:exp497|Lead acetate 2000μM R08 exp497]]|1.83|
|[[:results:exp530|Thioridazine 5μM R08 exp530]]|1.83|
|[[:results:exp485|GSK626616 14μM R08 exp485]]|1.88|
|[[:results:exp454|Bafilomycin-A1 0.009μM R08 exp454]]|2.02|
|[[:results:exp227|Cryptotanshinone 12μM R05 exp227]]|2.46|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 6/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|1/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|1/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|1/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 17628
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.86 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='TGFBR1 Expression in NALM6 Cells: 4.86'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>