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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
transforming growth factor beta receptor 1MIM:190181Ensembl:ENSG00000106799HGNC:HGNC:11772PA364859q22.33

GO terms in TGFBR1


Term TypeEvidence TypeGO Term IDGO Des.
CCIEAGO:0005768endosome
CCIDAGO:0005886plasma membrane
CCTASGO:0005886plasma membrane
CCIBAGO:0005887integral component of plasma membrane
CCIDAGO:0005923bicellular tight junction
CCIDAGO:0009986cell surface
CCIDAGO:0043231intracellular membrane-bounded organelle
CCIBAGO:0043235receptor complex
CCIDAGO:0043235receptor complex
CCIDAGO:0045121membrane raft
CCIBAGO:0048179activin receptor complex
CCICGO:0070022transforming growth factor beta receptor complex
BPIDAGO:0000186activation of MAPKK activity
BPISSGO:0001501skeletal system development
BPISSGO:0001701in utero embryonic development
BPISSGO:0001822kidney development
BPIEAGO:0001824blastocyst development
BPIDAGO:0001837epithelial to mesenchymal transition
BPIEAGO:0001937negative regulation of endothelial cell proliferation
BPISSGO:0001938positive regulation of endothelial cell proliferation
BPIEAGO:0002088lens development in camera-type eye
BPISSGO:0003222ventricular trabecula myocardium morphogenesis
BPISSGO:0003223ventricular compact myocardium morphogenesis
BPISSGO:0003342proepicardium development
BPIDAGO:0006355regulation of transcription, DNA-templated
BPIMPGO:0006355regulation of transcription, DNA-templated
BPIDAGO:0006468protein phosphorylation
BPIEAGO:0006915apoptotic process
BPTASGO:0007050cell cycle arrest
BPIDAGO:0007165signal transduction
BPIBAGO:0007179transforming growth factor beta receptor signaling pathway
BPICGO:0007179transforming growth factor beta receptor signaling pathway
BPIDAGO:0007179transforming growth factor beta receptor signaling pathway
BPIMPGO:0007179transforming growth factor beta receptor signaling pathway
BPISSGO:0007179transforming growth factor beta receptor signaling pathway
BPTASGO:0007179transforming growth factor beta receptor signaling pathway
BPIBAGO:0007389pattern specification process
BPISSGO:0007507heart development
BPIMPGO:0008284positive regulation of cell proliferation
BPISSGO:0008354germ cell migration
BPIEAGO:0008584male gonad development
BPIEAGO:0009791post-embryonic development
BPISSGO:0009952anterior/posterior pattern specification
BPIMPGO:0010628positive regulation of gene expression
BPISSGO:0010717regulation of epithelial to mesenchymal transition
BPISSGO:0010718positive regulation of epithelial to mesenchymal transition
BPIDAGO:0010862positive regulation of pathway-restricted SMAD protein phosphorylation
BPTASGO:0016579protein deubiquitination
BPIDAGO:0018105peptidyl-serine phosphorylation
BPIDAGO:0018107peptidyl-threonine phosphorylation
BPISSGO:0030199collagen fibril organization
BPIDAGO:0030307positive regulation of cell growth
BPIDAGO:0030335positive regulation of cell migration
BPTASGO:0030512negative regulation of transforming growth factor beta receptor signaling pathway
BPIDAGO:0031396regulation of protein ubiquitination
BPISSGO:0032331negative regulation of chondrocyte differentiation
BPIBAGO:0032924activin receptor signaling pathway
BPISSGO:0032924activin receptor signaling pathway
BPISSGO:0035556intracellular signal transduction
BPTASGO:0042060wound healing
BPISSGO:0042118endothelial cell activation
BPTASGO:0043062extracellular structure organization
BPIEAGO:0043393regulation of protein binding
BPIEAGO:0043542endothelial cell migration
BPIDAGO:0045893positive regulation of transcription, DNA-templated
BPISSGO:0048538thymus development
BPISSGO:0048663neuron fate commitment
BPISSGO:0048701embryonic cranial skeleton morphogenesis
BPISSGO:0048705skeletal system morphogenesis
BPTASGO:0048762mesenchymal cell differentiation
BPISSGO:0048844artery morphogenesis
BPIMPGO:0048870cell motility
BPIMPGO:0051272positive regulation of cellular component movement
BPIEAGO:0051491positive regulation of filopodium assembly
BPISSGO:0051496positive regulation of stress fiber assembly
BPIDAGO:0051897positive regulation of protein kinase B signaling
BPISSGO:0060017parathyroid gland development
BPISSGO:0060021roof of mouth development
BPISSGO:0060037pharyngeal system development
BPISSGO:0060043regulation of cardiac muscle cell proliferation
BPISSGO:0060317cardiac epithelial to mesenchymal transition
BPIDAGO:0060389pathway-restricted SMAD protein phosphorylation
BPIDAGO:0060391positive regulation of SMAD protein signal transduction
BPISSGO:0060412ventricular septum morphogenesis
BPISSGO:0060978angiogenesis involved in coronary vascular morphogenesis
BPISSGO:0060982coronary artery morphogenesis
BPIDAGO:0070723response to cholesterol
BPIDAGO:0071560cellular response to transforming growth factor beta stimulus
BPISSGO:1905007positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation
BPISSGO:1905075positive regulation of occluding junction disassembly
BPISSGO:1905223epicardium morphogenesis
BPIDAGO:2001235positive regulation of apoptotic signaling pathway
BPIMPGO:2001237negative regulation of extrinsic apoptotic signaling pathway
MFIDAGO:0004672protein kinase activity
MFIDAGO:0004674protein serine/threonine kinase activity
MFIBAGO:0005024transforming growth factor beta-activated receptor activity
MFICGO:0005024transforming growth factor beta-activated receptor activity
MFIDAGO:0005024transforming growth factor beta-activated receptor activity
MFIMPGO:0005024transforming growth factor beta-activated receptor activity
MFIMPGO:0005024transforming growth factor beta-activated receptor activity
MFIBAGO:0005025transforming growth factor beta receptor activity, type I
MFIDAGO:0005025transforming growth factor beta receptor activity, type I
MFIDAGO:0005114type II transforming growth factor beta receptor binding
MFIPIGO:0005114type II transforming growth factor beta receptor binding
MFIPIGO:0005515protein binding
MFIDAGO:0005524ATP binding
MFIBAGO:0019838growth factor binding
MFIPIGO:0019838growth factor binding
MFIBAGO:0046332SMAD binding
MFIDAGO:0046332SMAD binding
MFIPIGO:0046332SMAD binding
MFIEAGO:0046872metal ion binding
MFIBAGO:0048185activin binding
MFIDAGO:0050431transforming growth factor beta binding
MFIMPGO:0050431transforming growth factor beta binding
MFIPIGO:0050431transforming growth factor beta binding
MFIPIGO:0070411I-SMAD binding

Gene expression in normal tissue: TGFBR1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in TGFBR1


DatabasePathway IDPathway Des.
wikipathwaysWP2795Cardiac Hypertrophic Response
wikipathwaysWP2870Extracellular vesicle-mediated signaling in recipient cells
wikipathwaysWP3646Hepatitis C and Hepatocellular Carcinoma
wikipathwaysWP366TGF-beta Signaling Pathway
wikipathwaysWP3668Hypothesized Pathways in Pathogenesis of Cardiovascular Disease
wikipathwaysWP382MAPK Signaling Pathway
wikipathwaysWP3874Canonical and Non-Canonical TGF-B signaling
wikipathwaysWP3945TYROBP Causal Network
wikipathwaysWP400p38 MAPK Signaling Pathway
wikipathwaysWP4216Chromosomal and microsatellite instability in colorectal cancer
wikipathwaysWP4239EMT transition in Colorectal Cancer
wikipathwaysWP560TGF-beta Receptor Signaling
pidalk1pathwayALK1 signaling events
pidglypican_1pathwayGlypican 1 network
pidintegrin5_pathwayBeta5 beta6 beta7 and beta8 integrin cell surface interactions
pidtgfbrpathwayTGF-beta receptor signaling
netpathPathway_TGF_beta_ReceptorTGF_beta_Receptor
kegghsa04010MAPK signaling pathway - Homo sapiens (human)
kegghsa04060Cytokine-cytokine receptor interaction - Homo sapiens (human)
kegghsa04068FoxO signaling pathway - Homo sapiens (human)
kegghsa04144Endocytosis - Homo sapiens (human)
kegghsa04218Cellular senescence - Homo sapiens (human)
kegghsa04350TGF-beta signaling pathway - Homo sapiens (human)
kegghsa04371Apelin signaling pathway - Homo sapiens (human)
kegghsa04380Osteoclast differentiation - Homo sapiens (human)
kegghsa04390Hippo signaling pathway - Homo sapiens (human)
kegghsa04520Adherens junction - Homo sapiens (human)
kegghsa04659Th17 cell differentiation - Homo sapiens (human)
kegghsa04926Relaxin signaling pathway - Homo sapiens (human)
kegghsa04933AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human)
kegghsa05142Chagas disease (American trypanosomiasis) - Homo sapiens (human)
kegghsa05161Hepatitis B - Homo sapiens (human)
kegghsa05166HTLV-I infection - Homo sapiens (human)
kegghsa05200Pathways in cancer - Homo sapiens (human)
kegghsa05210Colorectal cancer - Homo sapiens (human)
kegghsa05212Pancreatic cancer - Homo sapiens (human)
kegghsa05220Chronic myeloid leukemia - Homo sapiens (human)
kegghsa05225Hepatocellular carcinoma - Homo sapiens (human)
kegghsa05226Gastric cancer - Homo sapiens (human)
biocartaalkpathwayalk in cardiac myocytes
biocartactcfpathwayctcf: first multivalent nuclear factor
biocartanthipathwaynfkb activation by nontypeable hemophilus influenzae
biocartatgfbpathwaytgf beta signaling pathway
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-1643685Disease
reactomeR-HSA-170834Signaling by TGF-beta Receptor Complex
reactomeR-HSA-170834Signaling by TGF-beta Receptor Complex
reactomeR-HSA-2173788Downregulation of TGF-beta receptor signaling
reactomeR-HSA-2173788Downregulation of TGF-beta receptor signaling
reactomeR-HSA-2173789TGF-beta receptor signaling activates SMADs
reactomeR-HSA-2173789TGF-beta receptor signaling activates SMADs
reactomeR-HSA-2173791TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
reactomeR-HSA-2173791TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
reactomeR-HSA-3304349Loss of Function of SMAD2/3 in Cancer
reactomeR-HSA-3304351Signaling by TGF-beta Receptor Complex in Cancer
reactomeR-HSA-3304356SMAD2/3 Phosphorylation Motif Mutants in Cancer
reactomeR-HSA-3315487SMAD2/3 MH2 Domain Mutants in Cancer
reactomeR-HSA-3642278Loss of Function of TGFBR2 in Cancer
reactomeR-HSA-3645790TGFBR2 Kinase Domain Mutants in Cancer
reactomeR-HSA-3656532TGFBR1 KD Mutants in Cancer
reactomeR-HSA-3656534Loss of Function of TGFBR1 in Cancer
reactomeR-HSA-3656535TGFBR1 LBD Mutants in Cancer
reactomeR-HSA-392499Metabolism of proteins
reactomeR-HSA-392499Metabolism of proteins
reactomeR-HSA-5663202Diseases of signal transduction
reactomeR-HSA-5688426Deubiquitination
reactomeR-HSA-5688426Deubiquitination
reactomeR-HSA-5689603UCH proteinases
reactomeR-HSA-5689880Ub-specific processing proteases
reactomeR-HSA-597592Post-translational protein modification
reactomeR-HSA-597592Post-translational protein modification
reactomeR-HSA-9006936Signaling by TGF-beta family members
reactomeR-HSA-9006936Signaling by TGF-beta family members

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD23Gossypol3
iGMDRD268Cerulenin3
iGMDRD524ISX-91
iGMDRD64Parbendazole3
iGMDRD60Quinoclamine2
iGMDRD577BIX012944
iGMDRD780PP-301
iGMDRD887Compound 23 citrate2
iGMDRD318PAC-12
iGMDRD870BRD636102
iGMDRD782DC-45-A22
iGMDRD298L-6854582
iGMDRD474Avrainvillamide2
iGMDRD152179324-69-73
iGMDRD427ABT7372
iGMDRD144NSC953978
iGMDRD889Compound 7d-cis5
iGMDRD420Leucascandrolide A3
iGMDRD505Pevonedistat4
iGMDRD886Compound 1541A2
iGMDRD263AACOCF33
iGMDRD414MST-3121
iGMDRD871BRD63682
iGMDRD267Oligomycin A4
iGMDRD231Importazole3
iGMDRD77Itraconazole2
iGMDRD289Parthenolide6
iGMDRD105Triptolide5
iGMDRD434BMS-5369242
iGMDRD103SN-383
iGMDRD121GMX17782
iGMDRD945ML2144
iGMDRD901ELCPK3
iGMDRD698Neratinib3
iGMDRD219Bax channel blocker2
iGMDRD150RITA2
iGMDRD248BRD43546
iGMDRD330BRD41323

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in TGFBR1

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