Summary | |
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Symbol | TGFBR1 |
Name | transforming growth factor, beta receptor 1 |
Aliases | ALK-5; activin A receptor type II-like kinase, 53kDa; MSSE; ESS1; transforming growth factor, beta receptor ...... |
Chromosomal Location | 9q22 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway |
Subcellular Location | Cell membrane Single-pass type I membrane protein Cell junction, tight junction Cell surface Membrane raft |
Domain |
PF01064 Activin types I and II receptor domain PF00069 Protein kinase domain PF08515 Transforming growth factor beta type I GS-motif |
Function |
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. |
Biological Process |
GO:0000186 activation of MAPKK activity GO:0001501 skeletal system development GO:0001525 angiogenesis GO:0001558 regulation of cell growth GO:0001654 eye development GO:0001655 urogenital system development GO:0001667 ameboidal-type cell migration GO:0001701 in utero embryonic development GO:0001822 kidney development GO:0001824 blastocyst development GO:0001837 epithelial to mesenchymal transition GO:0001935 endothelial cell proliferation GO:0001936 regulation of endothelial cell proliferation GO:0001937 negative regulation of endothelial cell proliferation GO:0001938 positive regulation of endothelial cell proliferation GO:0002062 chondrocyte differentiation GO:0002088 lens development in camera-type eye GO:0003002 regionalization GO:0003007 heart morphogenesis GO:0003197 endocardial cushion development GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003203 endocardial cushion morphogenesis GO:0003205 cardiac chamber development GO:0003206 cardiac chamber morphogenesis GO:0003208 cardiac ventricle morphogenesis GO:0003222 ventricular trabecula myocardium morphogenesis GO:0003223 ventricular compact myocardium morphogenesis GO:0003229 ventricular cardiac muscle tissue development GO:0003231 cardiac ventricle development GO:0003272 endocardial cushion formation GO:0003279 cardiac septum development GO:0003281 ventricular septum development GO:0006606 protein import into nucleus GO:0006913 nucleocytoplasmic transport GO:0007015 actin filament organization GO:0007050 cell cycle arrest GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007179 transforming growth factor beta receptor signaling pathway GO:0007184 SMAD protein import into nucleus GO:0007389 pattern specification process GO:0007423 sensory organ development GO:0007507 heart development GO:0007517 muscle organ development GO:0007548 sex differentiation GO:0008354 germ cell migration GO:0008406 gonad development GO:0008584 male gonad development GO:0009791 post-embryonic development GO:0009952 anterior/posterior pattern specification GO:0010631 epithelial cell migration GO:0010717 regulation of epithelial to mesenchymal transition GO:0010718 positive regulation of epithelial to mesenchymal transition GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0014706 striated muscle tissue development GO:0014855 striated muscle cell proliferation GO:0016049 cell growth GO:0016202 regulation of striated muscle tissue development GO:0017015 regulation of transforming growth factor beta receptor signaling pathway GO:0017038 protein import GO:0018105 peptidyl-serine phosphorylation GO:0018107 peptidyl-threonine phosphorylation GO:0018209 peptidyl-serine modification GO:0018210 peptidyl-threonine modification GO:0022412 cellular process involved in reproduction in multicellular organism GO:0030031 cell projection assembly GO:0030038 contractile actin filament bundle assembly GO:0030198 extracellular matrix organization GO:0030199 collagen fibril organization GO:0030307 positive regulation of cell growth GO:0030335 positive regulation of cell migration GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway GO:0031032 actomyosin structure organization GO:0031346 positive regulation of cell projection organization GO:0031396 regulation of protein ubiquitination GO:0032147 activation of protein kinase activity GO:0032231 regulation of actin filament bundle assembly GO:0032233 positive regulation of actin filament bundle assembly GO:0032330 regulation of chondrocyte differentiation GO:0032331 negative regulation of chondrocyte differentiation GO:0032386 regulation of intracellular transport GO:0032388 positive regulation of intracellular transport GO:0032924 activin receptor signaling pathway GO:0032956 regulation of actin cytoskeleton organization GO:0032970 regulation of actin filament-based process GO:0033002 muscle cell proliferation GO:0033157 regulation of intracellular protein transport GO:0033674 positive regulation of kinase activity GO:0034330 cell junction organization GO:0034504 protein localization to nucleus GO:0035265 organ growth GO:0035270 endocrine system development GO:0036314 response to sterol GO:0040017 positive regulation of locomotion GO:0042118 endothelial cell activation GO:0042306 regulation of protein import into nucleus GO:0042307 positive regulation of protein import into nucleus GO:0043010 camera-type eye development GO:0043062 extracellular structure organization GO:0043149 stress fiber assembly GO:0043393 regulation of protein binding GO:0043405 regulation of MAP kinase activity GO:0043410 positive regulation of MAPK cascade GO:0043491 protein kinase B signaling GO:0043542 endothelial cell migration GO:0044089 positive regulation of cellular component biogenesis GO:0044744 protein targeting to nucleus GO:0045137 development of primary sexual characteristics GO:0045165 cell fate commitment GO:0045216 cell-cell junction organization GO:0045786 negative regulation of cell cycle GO:0045860 positive regulation of protein kinase activity GO:0045927 positive regulation of growth GO:0046546 development of primary male sexual characteristics GO:0046620 regulation of organ growth GO:0046661 male sex differentiation GO:0046822 regulation of nucleocytoplasmic transport GO:0046824 positive regulation of nucleocytoplasmic transport GO:0046847 filopodium assembly GO:0048514 blood vessel morphogenesis GO:0048538 thymus development GO:0048562 embryonic organ morphogenesis GO:0048568 embryonic organ development GO:0048608 reproductive structure development GO:0048634 regulation of muscle organ development GO:0048638 regulation of developmental growth GO:0048644 muscle organ morphogenesis GO:0048663 neuron fate commitment GO:0048701 embryonic cranial skeleton morphogenesis GO:0048704 embryonic skeletal system morphogenesis GO:0048705 skeletal system morphogenesis GO:0048706 embryonic skeletal system development GO:0048732 gland development GO:0048738 cardiac muscle tissue development GO:0048762 mesenchymal cell differentiation GO:0048844 artery morphogenesis GO:0050673 epithelial cell proliferation GO:0050678 regulation of epithelial cell proliferation GO:0050679 positive regulation of epithelial cell proliferation GO:0050680 negative regulation of epithelial cell proliferation GO:0051017 actin filament bundle assembly GO:0051098 regulation of binding GO:0051169 nuclear transport GO:0051170 nuclear import GO:0051216 cartilage development GO:0051222 positive regulation of protein transport GO:0051272 positive regulation of cellular component movement GO:0051489 regulation of filopodium assembly GO:0051491 positive regulation of filopodium assembly GO:0051492 regulation of stress fiber assembly GO:0051493 regulation of cytoskeleton organization GO:0051495 positive regulation of cytoskeleton organization GO:0051496 positive regulation of stress fiber assembly GO:0051896 regulation of protein kinase B signaling GO:0051897 positive regulation of protein kinase B signaling GO:0055008 cardiac muscle tissue morphogenesis GO:0055010 ventricular cardiac muscle tissue morphogenesis GO:0055017 cardiac muscle tissue growth GO:0055021 regulation of cardiac muscle tissue growth GO:0055024 regulation of cardiac muscle tissue development GO:0060017 parathyroid gland development GO:0060021 palate development GO:0060037 pharyngeal system development GO:0060038 cardiac muscle cell proliferation GO:0060043 regulation of cardiac muscle cell proliferation GO:0060317 cardiac epithelial to mesenchymal transition GO:0060389 pathway-restricted SMAD protein phosphorylation GO:0060390 regulation of SMAD protein import into nucleus GO:0060391 positive regulation of SMAD protein import into nucleus GO:0060393 regulation of pathway-restricted SMAD protein phosphorylation GO:0060411 cardiac septum morphogenesis GO:0060412 ventricular septum morphogenesis GO:0060415 muscle tissue morphogenesis GO:0060419 heart growth GO:0060420 regulation of heart growth GO:0060485 mesenchyme development GO:0060491 regulation of cell projection assembly GO:0060537 muscle tissue development GO:0060840 artery development GO:0060976 coronary vasculature development GO:0060977 coronary vasculature morphogenesis GO:0060978 angiogenesis involved in coronary vascular morphogenesis GO:0060982 coronary artery morphogenesis GO:0061035 regulation of cartilage development GO:0061037 negative regulation of cartilage development GO:0061383 trabecula morphogenesis GO:0061384 heart trabecula morphogenesis GO:0061448 connective tissue development GO:0061458 reproductive system development GO:0061572 actin filament bundle organization GO:0070723 response to cholesterol GO:0071559 response to transforming growth factor beta GO:0071560 cellular response to transforming growth factor beta stimulus GO:0071900 regulation of protein serine/threonine kinase activity GO:0072001 renal system development GO:0072132 mesenchyme morphogenesis GO:0090092 regulation of transmembrane receptor protein serine/threonine kinase signaling pathway GO:0090100 positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway GO:0090101 negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway GO:0090130 tissue migration GO:0090132 epithelium migration GO:0090287 regulation of cellular response to growth factor stimulus GO:0090288 negative regulation of cellular response to growth factor stimulus GO:0090316 positive regulation of intracellular protein transport GO:0097191 extrinsic apoptotic signaling pathway GO:0097305 response to alcohol GO:1900180 regulation of protein localization to nucleus GO:1900182 positive regulation of protein localization to nucleus GO:1901861 regulation of muscle tissue development GO:1902593 single-organism nuclear import GO:1903320 regulation of protein modification by small protein conjugation or removal GO:1903533 regulation of protein targeting GO:1903829 positive regulation of cellular protein localization GO:1903844 regulation of cellular response to transforming growth factor beta stimulus GO:1903845 negative regulation of cellular response to transforming growth factor beta stimulus GO:1904589 regulation of protein import GO:1904591 positive regulation of protein import GO:1904888 cranial skeletal system development GO:1904951 positive regulation of establishment of protein localization GO:1905005 regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905071 occluding junction disassembly GO:1905073 regulation of occluding junction disassembly GO:1905075 positive regulation of occluding junction disassembly GO:1905223 epicardium morphogenesis GO:2000027 regulation of organ morphogenesis GO:2000147 positive regulation of cell motility GO:2000826 regulation of heart morphogenesis GO:2001233 regulation of apoptotic signaling pathway GO:2001234 negative regulation of apoptotic signaling pathway GO:2001235 positive regulation of apoptotic signaling pathway GO:2001236 regulation of extrinsic apoptotic signaling pathway GO:2001237 negative regulation of extrinsic apoptotic signaling pathway |
Molecular Function |
GO:0004674 protein serine/threonine kinase activity GO:0004675 transmembrane receptor protein serine/threonine kinase activity GO:0004702 receptor signaling protein serine/threonine kinase activity GO:0005024 transforming growth factor beta-activated receptor activity GO:0005025 transforming growth factor beta receptor activity, type I GO:0005057 receptor signaling protein activity GO:0005114 type II transforming growth factor beta receptor binding GO:0005126 cytokine receptor binding GO:0005160 transforming growth factor beta receptor binding GO:0019199 transmembrane receptor protein kinase activity GO:0019838 growth factor binding GO:0019955 cytokine binding GO:0046332 SMAD binding GO:0050431 transforming growth factor beta binding GO:0070411 I-SMAD binding |
Cellular Component |
GO:0005923 bicellular tight junction GO:0043235 receptor complex GO:0043296 apical junction complex GO:0045121 membrane raft GO:0061695 transferase complex, transferring phosphorus-containing groups GO:0070022 transforming growth factor beta receptor homodimeric complex GO:0070160 occluding junction GO:0098589 membrane region GO:0098802 plasma membrane receptor complex GO:0098857 membrane microdomain GO:1902554 serine/threonine protein kinase complex GO:1902911 protein kinase complex |
KEGG |
hsa04010 MAPK signaling pathway hsa04060 Cytokine-cytokine receptor interaction hsa04068 FoxO signaling pathway hsa04144 Endocytosis hsa04350 TGF-beta signaling pathway hsa04380 Osteoclast differentiation hsa04390 Hippo signaling pathway hsa04520 Adherens junction |
Reactome |
R-HSA-5688426: Deubiquitination R-HSA-1643685: Disease R-HSA-5663202: Diseases of signal transduction R-HSA-2173788: Downregulation of TGF-beta receptor signaling R-HSA-3304349: Loss of Function of SMAD2/3 in Cancer R-HSA-3656534: Loss of Function of TGFBR1 in Cancer R-HSA-3642278: Loss of Function of TGFBR2 in Cancer R-HSA-392499: Metabolism of proteins R-HSA-597592: Post-translational protein modification R-HSA-3315487: SMAD2/3 MH2 Domain Mutants in Cancer R-HSA-3304356: SMAD2/3 Phosphorylation Motif Mutants in Cancer R-HSA-162582: Signal Transduction R-HSA-170834: Signaling by TGF-beta Receptor Complex R-HSA-3304351: Signaling by TGF-beta Receptor Complex in Cancer R-HSA-2173789: TGF-beta receptor signaling activates SMADs R-HSA-2173791: TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) R-HSA-3656532: TGFBR1 KD Mutants in Cancer R-HSA-3656535: TGFBR1 LBD Mutants in Cancer R-HSA-3645790: TGFBR2 Kinase Domain Mutants in Cancer R-HSA-5689603: UCH proteinases R-HSA-5689880: Ub-specific processing proteases |
Summary | |
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Symbol | TGFBR1 |
Name | transforming growth factor, beta receptor 1 |
Aliases | ALK-5; activin A receptor type II-like kinase, 53kDa; MSSE; ESS1; transforming growth factor, beta receptor ...... |
Chromosomal Location | 9q22 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Literatures that report relations between TGFBR1 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells. |
Literatures describing the relation between TGFBR1 and anti-tumor immunity in human cancer.
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Summary | |
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Symbol | TGFBR1 |
Name | transforming growth factor, beta receptor 1 |
Aliases | ALK-5; activin A receptor type II-like kinase, 53kDa; MSSE; ESS1; transforming growth factor, beta receptor ...... |
Chromosomal Location | 9q22 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets. |
> High-throughput Screening
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Statistical results of TGFBR1 in screening data sets for detecting immune reponses.
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Summary | |
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Symbol | TGFBR1 |
Name | transforming growth factor, beta receptor 1 |
Aliases | ALK-5; activin A receptor type II-like kinase, 53kDa; MSSE; ESS1; transforming growth factor, beta receptor ...... |
Chromosomal Location | 9q22 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders |
Points in the above scatter plot represent the expression difference of TGFBR1 in various data sets.
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Points in the above scatter plot represent the mutation difference of TGFBR1 in various data sets.
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Summary | |
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Symbol | TGFBR1 |
Name | transforming growth factor, beta receptor 1 |
Aliases | ALK-5; activin A receptor type II-like kinase, 53kDa; MSSE; ESS1; transforming growth factor, beta receptor ...... |
Chromosomal Location | 9q22 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of TGFBR1. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene. |
Summary | |
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Symbol | TGFBR1 |
Name | transforming growth factor, beta receptor 1 |
Aliases | ALK-5; activin A receptor type II-like kinase, 53kDa; MSSE; ESS1; transforming growth factor, beta receptor ...... |
Chromosomal Location | 9q22 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of TGFBR1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by TGFBR1. > Immunoinhibitor > Immunostimulator > MHC molecule |
Summary | |
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Symbol | TGFBR1 |
Name | transforming growth factor, beta receptor 1 |
Aliases | ALK-5; activin A receptor type II-like kinase, 53kDa; MSSE; ESS1; transforming growth factor, beta receptor ...... |
Chromosomal Location | 9q22 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of TGFBR1. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor |
Summary | |
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Symbol | TGFBR1 |
Name | transforming growth factor, beta receptor 1 |
Aliases | ALK-5; activin A receptor type II-like kinase, 53kDa; MSSE; ESS1; transforming growth factor, beta receptor ...... |
Chromosomal Location | 9q22 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Distribution of TGFBR1 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype |
Summary | |
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Symbol | TGFBR1 |
Name | transforming growth factor, beta receptor 1 |
Aliases | ALK-5; activin A receptor type II-like kinase, 53kDa; MSSE; ESS1; transforming growth factor, beta receptor ...... |
Chromosomal Location | 9q22 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Associations between TGFBR1 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade |
Summary | |
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Symbol | TGFBR1 |
Name | transforming growth factor, beta receptor 1 |
Aliases | ALK-5; activin A receptor type II-like kinase, 53kDa; MSSE; ESS1; transforming growth factor, beta receptor ...... |
Chromosomal Location | 9q22 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Drugs targeting TGFBR1 collected from DrugBank database. |
Details on drugs targeting TGFBR1.
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