TGFBR1
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| transforming growth factor beta receptor 1 | MIM:190181 | Ensembl:ENSG00000106799 | HGNC:HGNC:11772 | PA36485 | 9q22.33 |
GO terms in TGFBR1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0005768 | endosome |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0005923 | bicellular tight junction |
| CC | IDA | GO:0009986 | cell surface |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| CC | IBA | GO:0043235 | receptor complex |
| CC | IDA | GO:0043235 | receptor complex |
| CC | IDA | GO:0045121 | membrane raft |
| CC | IBA | GO:0048179 | activin receptor complex |
| CC | IC | GO:0070022 | transforming growth factor beta receptor complex |
| BP | IDA | GO:0000186 | activation of MAPKK activity |
| BP | ISS | GO:0001501 | skeletal system development |
| BP | ISS | GO:0001701 | in utero embryonic development |
| BP | ISS | GO:0001822 | kidney development |
| BP | IEA | GO:0001824 | blastocyst development |
| BP | IDA | GO:0001837 | epithelial to mesenchymal transition |
| BP | IEA | GO:0001937 | negative regulation of endothelial cell proliferation |
| BP | ISS | GO:0001938 | positive regulation of endothelial cell proliferation |
| BP | IEA | GO:0002088 | lens development in camera-type eye |
| BP | ISS | GO:0003222 | ventricular trabecula myocardium morphogenesis |
| BP | ISS | GO:0003223 | ventricular compact myocardium morphogenesis |
| BP | ISS | GO:0003342 | proepicardium development |
| BP | IDA | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IMP | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IDA | GO:0006468 | protein phosphorylation |
| BP | IEA | GO:0006915 | apoptotic process |
| BP | TAS | GO:0007050 | cell cycle arrest |
| BP | IDA | GO:0007165 | signal transduction |
| BP | IBA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IC | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IDA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IMP | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | ISS | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | TAS | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IBA | GO:0007389 | pattern specification process |
| BP | ISS | GO:0007507 | heart development |
| BP | IMP | GO:0008284 | positive regulation of cell proliferation |
| BP | ISS | GO:0008354 | germ cell migration |
| BP | IEA | GO:0008584 | male gonad development |
| BP | IEA | GO:0009791 | post-embryonic development |
| BP | ISS | GO:0009952 | anterior/posterior pattern specification |
| BP | IMP | GO:0010628 | positive regulation of gene expression |
| BP | ISS | GO:0010717 | regulation of epithelial to mesenchymal transition |
| BP | ISS | GO:0010718 | positive regulation of epithelial to mesenchymal transition |
| BP | IDA | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation |
| BP | TAS | GO:0016579 | protein deubiquitination |
| BP | IDA | GO:0018105 | peptidyl-serine phosphorylation |
| BP | IDA | GO:0018107 | peptidyl-threonine phosphorylation |
| BP | ISS | GO:0030199 | collagen fibril organization |
| BP | IDA | GO:0030307 | positive regulation of cell growth |
| BP | IDA | GO:0030335 | positive regulation of cell migration |
| BP | TAS | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway |
| BP | IDA | GO:0031396 | regulation of protein ubiquitination |
| BP | ISS | GO:0032331 | negative regulation of chondrocyte differentiation |
| BP | IBA | GO:0032924 | activin receptor signaling pathway |
| BP | ISS | GO:0032924 | activin receptor signaling pathway |
| BP | ISS | GO:0035556 | intracellular signal transduction |
| BP | TAS | GO:0042060 | wound healing |
| BP | ISS | GO:0042118 | endothelial cell activation |
| BP | TAS | GO:0043062 | extracellular structure organization |
| BP | IEA | GO:0043393 | regulation of protein binding |
| BP | IEA | GO:0043542 | endothelial cell migration |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | ISS | GO:0048538 | thymus development |
| BP | ISS | GO:0048663 | neuron fate commitment |
| BP | ISS | GO:0048701 | embryonic cranial skeleton morphogenesis |
| BP | ISS | GO:0048705 | skeletal system morphogenesis |
| BP | TAS | GO:0048762 | mesenchymal cell differentiation |
| BP | ISS | GO:0048844 | artery morphogenesis |
| BP | IMP | GO:0048870 | cell motility |
| BP | IMP | GO:0051272 | positive regulation of cellular component movement |
| BP | IEA | GO:0051491 | positive regulation of filopodium assembly |
| BP | ISS | GO:0051496 | positive regulation of stress fiber assembly |
| BP | IDA | GO:0051897 | positive regulation of protein kinase B signaling |
| BP | ISS | GO:0060017 | parathyroid gland development |
| BP | ISS | GO:0060021 | roof of mouth development |
| BP | ISS | GO:0060037 | pharyngeal system development |
| BP | ISS | GO:0060043 | regulation of cardiac muscle cell proliferation |
| BP | ISS | GO:0060317 | cardiac epithelial to mesenchymal transition |
| BP | IDA | GO:0060389 | pathway-restricted SMAD protein phosphorylation |
| BP | IDA | GO:0060391 | positive regulation of SMAD protein signal transduction |
| BP | ISS | GO:0060412 | ventricular septum morphogenesis |
| BP | ISS | GO:0060978 | angiogenesis involved in coronary vascular morphogenesis |
| BP | ISS | GO:0060982 | coronary artery morphogenesis |
| BP | IDA | GO:0070723 | response to cholesterol |
| BP | IDA | GO:0071560 | cellular response to transforming growth factor beta stimulus |
| BP | ISS | GO:1905007 | positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation |
| BP | ISS | GO:1905075 | positive regulation of occluding junction disassembly |
| BP | ISS | GO:1905223 | epicardium morphogenesis |
| BP | IDA | GO:2001235 | positive regulation of apoptotic signaling pathway |
| BP | IMP | GO:2001237 | negative regulation of extrinsic apoptotic signaling pathway |
| MF | IDA | GO:0004672 | protein kinase activity |
| MF | IDA | GO:0004674 | protein serine/threonine kinase activity |
| MF | IBA | GO:0005024 | transforming growth factor beta-activated receptor activity |
| MF | IC | GO:0005024 | transforming growth factor beta-activated receptor activity |
| MF | IDA | GO:0005024 | transforming growth factor beta-activated receptor activity |
| MF | IMP | GO:0005024 | transforming growth factor beta-activated receptor activity |
| MF | IMP | GO:0005024 | transforming growth factor beta-activated receptor activity |
| MF | IBA | GO:0005025 | transforming growth factor beta receptor activity, type I |
| MF | IDA | GO:0005025 | transforming growth factor beta receptor activity, type I |
| MF | IDA | GO:0005114 | type II transforming growth factor beta receptor binding |
| MF | IPI | GO:0005114 | type II transforming growth factor beta receptor binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0005524 | ATP binding |
| MF | IBA | GO:0019838 | growth factor binding |
| MF | IPI | GO:0019838 | growth factor binding |
| MF | IBA | GO:0046332 | SMAD binding |
| MF | IDA | GO:0046332 | SMAD binding |
| MF | IPI | GO:0046332 | SMAD binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IBA | GO:0048185 | activin binding |
| MF | IDA | GO:0050431 | transforming growth factor beta binding |
| MF | IMP | GO:0050431 | transforming growth factor beta binding |
| MF | IPI | GO:0050431 | transforming growth factor beta binding |
| MF | IPI | GO:0070411 | I-SMAD binding |
Gene expression in normal tissue: TGFBR1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TGFBR1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2795 | Cardiac Hypertrophic Response |
| wikipathways | WP2870 | Extracellular vesicle-mediated signaling in recipient cells |
| wikipathways | WP3646 | Hepatitis C and Hepatocellular Carcinoma |
| wikipathways | WP366 | TGF-beta Signaling Pathway |
| wikipathways | WP3668 | Hypothesized Pathways in Pathogenesis of Cardiovascular Disease |
| wikipathways | WP382 | MAPK Signaling Pathway |
| wikipathways | WP3874 | Canonical and Non-Canonical TGF-B signaling |
| wikipathways | WP3945 | TYROBP Causal Network |
| wikipathways | WP400 | p38 MAPK Signaling Pathway |
| wikipathways | WP4216 | Chromosomal and microsatellite instability in colorectal cancer |
| wikipathways | WP4239 | EMT transition in Colorectal Cancer |
| wikipathways | WP560 | TGF-beta Receptor Signaling |
| pid | alk1pathway | ALK1 signaling events |
| pid | glypican_1pathway | Glypican 1 network |
| pid | integrin5_pathway | Beta5 beta6 beta7 and beta8 integrin cell surface interactions |
| pid | tgfbrpathway | TGF-beta receptor signaling |
| netpath | Pathway_TGF_beta_Receptor | TGF_beta_Receptor |
| kegg | hsa04010 | MAPK signaling pathway - Homo sapiens (human) |
| kegg | hsa04060 | Cytokine-cytokine receptor interaction - Homo sapiens (human) |
| kegg | hsa04068 | FoxO signaling pathway - Homo sapiens (human) |
| kegg | hsa04144 | Endocytosis - Homo sapiens (human) |
| kegg | hsa04218 | Cellular senescence - Homo sapiens (human) |
| kegg | hsa04350 | TGF-beta signaling pathway - Homo sapiens (human) |
| kegg | hsa04371 | Apelin signaling pathway - Homo sapiens (human) |
| kegg | hsa04380 | Osteoclast differentiation - Homo sapiens (human) |
| kegg | hsa04390 | Hippo signaling pathway - Homo sapiens (human) |
| kegg | hsa04520 | Adherens junction - Homo sapiens (human) |
| kegg | hsa04659 | Th17 cell differentiation - Homo sapiens (human) |
| kegg | hsa04926 | Relaxin signaling pathway - Homo sapiens (human) |
| kegg | hsa04933 | AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human) |
| kegg | hsa05142 | Chagas disease (American trypanosomiasis) - Homo sapiens (human) |
| kegg | hsa05161 | Hepatitis B - Homo sapiens (human) |
| kegg | hsa05166 | HTLV-I infection - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05210 | Colorectal cancer - Homo sapiens (human) |
| kegg | hsa05212 | Pancreatic cancer - Homo sapiens (human) |
| kegg | hsa05220 | Chronic myeloid leukemia - Homo sapiens (human) |
| kegg | hsa05225 | Hepatocellular carcinoma - Homo sapiens (human) |
| kegg | hsa05226 | Gastric cancer - Homo sapiens (human) |
| biocarta | alkpathway | alk in cardiac myocytes |
| biocarta | ctcfpathway | ctcf: first multivalent nuclear factor |
| biocarta | nthipathway | nfkb activation by nontypeable hemophilus influenzae |
| biocarta | tgfbpathway | tgf beta signaling pathway |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-170834 | Signaling by TGF-beta Receptor Complex |
| reactome | R-HSA-170834 | Signaling by TGF-beta Receptor Complex |
| reactome | R-HSA-2173788 | Downregulation of TGF-beta receptor signaling |
| reactome | R-HSA-2173788 | Downregulation of TGF-beta receptor signaling |
| reactome | R-HSA-2173789 | TGF-beta receptor signaling activates SMADs |
| reactome | R-HSA-2173789 | TGF-beta receptor signaling activates SMADs |
| reactome | R-HSA-2173791 | TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) |
| reactome | R-HSA-2173791 | TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) |
| reactome | R-HSA-3304349 | Loss of Function of SMAD2/3 in Cancer |
| reactome | R-HSA-3304351 | Signaling by TGF-beta Receptor Complex in Cancer |
| reactome | R-HSA-3304356 | SMAD2/3 Phosphorylation Motif Mutants in Cancer |
| reactome | R-HSA-3315487 | SMAD2/3 MH2 Domain Mutants in Cancer |
| reactome | R-HSA-3642278 | Loss of Function of TGFBR2 in Cancer |
| reactome | R-HSA-3645790 | TGFBR2 Kinase Domain Mutants in Cancer |
| reactome | R-HSA-3656532 | TGFBR1 KD Mutants in Cancer |
| reactome | R-HSA-3656534 | Loss of Function of TGFBR1 in Cancer |
| reactome | R-HSA-3656535 | TGFBR1 LBD Mutants in Cancer |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-5663202 | Diseases of signal transduction |
| reactome | R-HSA-5688426 | Deubiquitination |
| reactome | R-HSA-5688426 | Deubiquitination |
| reactome | R-HSA-5689603 | UCH proteinases |
| reactome | R-HSA-5689880 | Ub-specific processing proteases |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD23 | Gossypol | 3 |
| iGMDRD268 | Cerulenin | 3 |
| iGMDRD524 | ISX-9 | 1 |
| iGMDRD64 | Parbendazole | 3 |
| iGMDRD60 | Quinoclamine | 2 |
| iGMDRD577 | BIX01294 | 4 |
| iGMDRD780 | PP-30 | 1 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD318 | PAC-1 | 2 |
| iGMDRD870 | BRD63610 | 2 |
| iGMDRD782 | DC-45-A2 | 2 |
| iGMDRD298 | L-685458 | 2 |
| iGMDRD474 | Avrainvillamide | 2 |
| iGMDRD152 | 179324-69-7 | 3 |
| iGMDRD427 | ABT737 | 2 |
| iGMDRD144 | NSC95397 | 8 |
| iGMDRD889 | Compound 7d-cis | 5 |
| iGMDRD420 | Leucascandrolide A | 3 |
| iGMDRD505 | Pevonedistat | 4 |
| iGMDRD886 | Compound 1541A | 2 |
| iGMDRD263 | AACOCF3 | 3 |
| iGMDRD414 | MST-312 | 1 |
| iGMDRD871 | BRD6368 | 2 |
| iGMDRD267 | Oligomycin A | 4 |
| iGMDRD231 | Importazole | 3 |
| iGMDRD77 | Itraconazole | 2 |
| iGMDRD289 | Parthenolide | 6 |
| iGMDRD105 | Triptolide | 5 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD103 | SN-38 | 3 |
| iGMDRD121 | GMX1778 | 2 |
| iGMDRD945 | ML214 | 4 |
| iGMDRD901 | ELCPK | 3 |
| iGMDRD698 | Neratinib | 3 |
| iGMDRD219 | Bax channel blocker | 2 |
| iGMDRD150 | RITA | 2 |
| iGMDRD248 | BRD4354 | 6 |
| iGMDRD330 | BRD4132 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TGFBR1
CLASSFICATION
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