Entity Details

Primary name TGFR1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP36897
EntryNameTGFR1_HUMAN
FullNameTGF-beta receptor type-1
TaxID9606
Evidenceevidence at protein level
Length503
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesTGFBR1

GO terms

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GOName
GO:0000186 obsolete activation of MAPKK activity
GO:0001501 skeletal system development
GO:0001701 in utero embryonic development
GO:0001822 kidney development
GO:0001824 blastocyst development
GO:0001837 epithelial to mesenchymal transition
GO:0001937 negative regulation of endothelial cell proliferation
GO:0001938 positive regulation of endothelial cell proliferation
GO:0002088 lens development in camera-type eye
GO:0003222 ventricular trabecula myocardium morphogenesis
GO:0003223 ventricular compact myocardium morphogenesis
GO:0004672 protein kinase activity
GO:0004674 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:0005114 type II transforming growth factor beta receptor binding
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005768 endosome
GO:0005886 plasma membrane
GO:0005923 bicellular tight junction
GO:0006355 regulation of transcription, DNA-templated
GO:0006468 protein phosphorylation
GO:0006915 apoptotic process
GO:0007165 signal transduction
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007399 nervous system development
GO:0007507 heart development
GO:0008284 positive regulation of cell population proliferation
GO:0008354 germ cell migration
GO:0008584 male gonad development
GO:0009791 post-embryonic development
GO:0009952 anterior/posterior pattern specification
GO:0009986 cell surface
GO:0010468 regulation of gene expression
GO:0010628 positive regulation of gene expression
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:0016020 membrane
GO:0016361 activin receptor activity, type I
GO:0016579 protein deubiquitination
GO:0018105 peptidyl-serine phosphorylation
GO:0018107 peptidyl-threonine phosphorylation
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:0031396 regulation of protein ubiquitination
GO:0032331 negative regulation of chondrocyte differentiation
GO:0032924 activin receptor signaling pathway
GO:0035556 intracellular signal transduction
GO:0042060 wound healing
GO:0042118 endothelial cell activation
GO:0043062 extracellular structure organization
GO:0043235 receptor complex
GO:0043393 regulation of protein binding
GO:0043542 endothelial cell migration
GO:0045121 membrane raft
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046332 SMAD binding
GO:0046872 metal ion binding
GO:0048179 activin receptor complex
GO:0048185 activin binding
GO:0048538 thymus development
GO:0048663 neuron fate commitment
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0048705 skeletal system morphogenesis
GO:0048762 mesenchymal cell differentiation
GO:0048844 artery morphogenesis
GO:0048870 cell motility
GO:0050431 transforming growth factor beta binding
GO:0051272 positive regulation of cellular component movement
GO:0051491 positive regulation of filopodium assembly
GO:0051496 positive regulation of stress fiber assembly
GO:0051897 positive regulation of protein kinase B signaling
GO:0060017 parathyroid gland development
GO:0060021 roof of mouth development
GO:0060037 pharyngeal system development
GO:0060043 regulation of cardiac muscle cell proliferation
GO:0060317 cardiac epithelial to mesenchymal transition
GO:0060389 pathway-restricted SMAD protein phosphorylation
GO:0060391 positive regulation of SMAD protein signal transduction
GO:0060412 ventricular septum morphogenesis
GO:0060978 angiogenesis involved in coronary vascular morphogenesis
GO:0060982 coronary artery morphogenesis
GO:0070411 I-SMAD binding
GO:0070723 response to cholesterol
GO:0071363 cellular response to growth factor stimulus
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:1905007 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation
GO:1905075 positive regulation of tight junction disassembly
GO:1905223 epicardium morphogenesis
GO:2001235 positive regulation of apoptotic signaling pathway
GO:2001237 negative regulation of extrinsic apoptotic signaling pathway

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Cell surface
Membrane raft

Domains

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DomainNameCategoryType
IPR000333 Ser/Thr protein kinase, TGFB receptorFamilyFamily
IPR000472 Activin types I and II receptor domainDomainDomain
IPR000719 Protein kinase domainDomainDomain
IPR003605 GS domainDomainDomain
IPR008271 Serine/threonine-protein kinase, active siteSiteActive site
IPR011009 Protein kinase-like domain superfamilyFamilyHomologous superfamily
IPR017441 Protein kinase, ATP binding siteSiteBinding site

Diseases

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Disease IDSourceNameDescription
132800 OMIMMultiple self-healing squamous epithelioma (MSSE)A disorder characterized by multiple skin tumors that undergo spontaneous regression. Tumors appear most often on sun-exposed regions, are locally invasive, and undergo spontaneous resolution over a period of months leaving pitted scars. The disease is caused by variants affecting the gene represented in this entry.
609192 OMIMLoeys-Dietz syndrome 1 (LDS1)An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit. The disease is caused by variants affecting the gene represented in this entry. TGFBR1 mutation Gln-487 has been reported to be associated with thoracic aortic aneurysms and dissection (TAAD) (PubMed:16791849). This phenotype, also known as thoracic aortic aneurysms type 5 (AAT5), is distinguised from LDS1 by having aneurysms restricted to thoracic aorta. It is unclear, however, if this condition is fulfilled in individuals bearing Gln-487 mutation, that is why they are considered as LDS1 by the OMIM resource.

Drugs

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DrugNameSourceType
DB03921 4-(3-Pyridin-2-Yl-1h-Pyrazol-4-Yl)QuinolineDrugbanksmall molecule
DB04434 Naphthyridine InhibitorDrugbanksmall molecule
DB04480 3-(4-Fluorophenyl)-2-(6-Methylpyridin-2-Yl)-5,6-Dihydro-4h-Pyrrolo[1,2-B]PyrazoleDrugbanksmall molecule
DB07152 N-[4-(5-fluoro-6-methylpyridin-2-yl)-5-quinoxalin-6-yl-1H-imidazol-2-yl]acetamideDrugbanksmall molecule
DB07267 2-(6-methylpyridin-2-yl)-N-pyridin-4-ylquinazolin-4-amineDrugbanksmall molecule
DB08450 N-1H-indazol-5-yl-2-(6-methylpyridin-2-yl)quinazolin-4-amineDrugbanksmall molecule
DB12010 FostamatinibDrugbanksmall molecule

Interactions

194 interactions

InteractorPartnerSourcesPublicationsLink
TGFR1_HUMANFKB1A_HUMANBioGRID, HPRD, IntAct10025408 16049346 24658140 7518616 7791754 9346894 details
TGFR1_HUMANSMAD2_HUMANBioGRID, HPRD, MINT11102446 12543979 15350225 18511908 19139564 25872870 29490279 9346908 9525694 9892009 details
TGFR1_HUMANSTRAP_HUMANBioGRID, HPRD, IntAct10757800 17314099 9856985 details
TGFR1_HUMANTGFB1_HUMANBioGRID, HPRD, I2D10716993 15597342 20856203 8235612 details
TGFR1_HUMANACVR1_HUMANHPRD, IntAct15761153 24658140 details
TGFR1_HUMANTGFR2_HUMANBioGRID, DIP, HPRD11102446 11483955 19556242 19758997 21791611 23868260 25825445 7890683 8576253 details
TGFR1_HUMANA2GL_HUMANDIP23868260 details
TGFR1_HUMANEGLN_HUMANBioGRID, DIP, HPRD12015308 15702480 18974388 23868260 9872992 details
TGFR1_HUMANBMPR2_HUMANBioGRID7791754 7890683 details
TGFR1_HUMANSMAD7_HUMANBioGRID, HPRD10757800 11163210 12151385 14657019 14722617 15148321 15359284 15946939 16027725 17314099 19758997 20663871 21791611 22624557 23027871 25149540 31746425 9215638 9335507 details
TGFR1_HUMANFNTA_HUMANBioGRID, HPRD8530343 details
TGFR1_HUMANAP2B1_HUMANBioGRID, HPRD12429842 details
TGFR1_HUMANCD44_HUMANBioGRID, HPRD12145287 15597342 details
TGFR1_HUMAN2ABA_HUMANBioGRID, HPRD9774674 details
TGFR1_HUMANCLUS_HUMANBioGRID, HPRD8555189 details
TGFR1_HUMANTRAF6_HUMANBioGRID, HPRD18758450 18922473 24103590 25622187 26807171 details
TGFR1_HUMANHS90A_HUMANBioGRID18591668 21465483 22848678 details
TGFR1_HUMANSKI_HUMANBioGRID20959473 details
TGFR1_HUMANT22D1_HUMANBioGRID21791611 details
TGFR1_HUMANUBP4_HUMANBioGRID22706160 30335615 details
TGFR1_HUMANMYOC_HUMANBioGRID, HPRD16289162 details
TGFR1_HUMANBAMBI_HUMANBioGRID19758997 details
TGFR1_HUMANSMAD3_HUMANBioGRID, HPRD12543979 19758997 25872870 9311995 details
TGFR1_HUMANPAK1_HUMANBioGRID, HPRD15761153 details
TGFR1_HUMANNRP1_HUMANBioGRID20675371 21186301 details
TGFR1_HUMANRANB9_HUMANBioGRID24103590 details
TGFR1_HUMANOTUB1_HUMANBioGRID25872870 details
TGFR1_HUMANTGFA1_HUMANBioGRID, HPRD11278302 9545258 details
TGFR1_HUMANDP13A_HUMANBioGRID26583432 details
TGFR1_HUMANFKB1B_HUMANBioGRID16049346 details
TGFR1_HUMANPSDE_HUMANBioGRID30745168 details
TGFR1_HUMANUBP2_HUMANBioGRID29490279 details
TGFR1_HUMANMYT1L_HUMANBioGRID29490279 details
TGFR1_HUMANTRAP1_HUMANHPRD11278302 9545258 details
TGFR1_HUMAN1433Z_HUMANIntAct19732720 details
TGFR1_HUMANTGFB3_HUMANHPRD, MINT11850637 12060054 12607775 21423151 details
TGFR1_HUMANITA5_HUMANMINT22940691 details
TGFR1_HUMANDLG5_HUMANMINT23624079 details
TGFR1_HUMANM3K20_HUMANBioGRID, HPRD15465036 details
TGFR1_HUMANSMUF1_HUMANBioGRID11278251 12857866 14657019 details
TGFR1_HUMANSMUF2_HUMANBioGRID, HPRD11163210 14722617 21791611 22624557 23973329 25149540 26679521 31746425 details
TGFR1_HUMANP85A_HUMANBioGRID, HPRD15657037 9435577 details
TGFR1_HUMANP85B_HUMANBioGRID, HPRD9435577 details
TGFR1_HUMANSNX6_HUMANBioGRID, HPRD11279102 details
TGFR1_HUMANCAV1_HUMANBioGRID, HPRD11102446 30745168 details
TGFR1_HUMANSMAD4_HUMANBioGRID, HPRD11102446 15761153 8774881 details
TGFR1_HUMANM3K7_HUMANBioGRID, HPRD18758450 19556242 23973329 details
TGFR1_HUMANMK14_HUMANBioGRID18758450 details
TGFR1_HUMANEP300_HUMANBioGRID21629263 details
TGFR1_HUMANHSP74_HUMANBioGRID19995547 details
TGFR1_HUMANSKIL_HUMANBioGRID20959473 details
TGFR1_HUMANITCH_HUMANBioGRID15350225 details
TGFR1_HUMANHMMR_HUMANBioGRID22610405 details
TGFR1_HUMANUBP11_HUMANBioGRID22773947 details
TGFR1_HUMANUBP15_HUMANBioGRID22344298 23973329 24850914 details
TGFR1_HUMANTOLIP_HUMANBioGRID23027871 details
TGFR1_HUMANSMAD6_HUMANBioGRID, HPRD20663871 9335505 9436979 details
TGFR1_HUMANTAB2_HUMANBioGRID19556242 details
TGFR1_HUMANCDC42_HUMANBioGRID15761153 details
TGFR1_HUMANARHG6_HUMANBioGRID, HPRD15761153 details
TGFR1_HUMANKCNKI_HUMANBioGRID, HPRD15761153 details
TGFR1_HUMANFBX34_HUMANBioGRID, HPRD15761153 details
TGFR1_HUMANOXSR1_HUMANBioGRID, HPRD15761153 details
TGFR1_HUMANPP16B_HUMANBioGRID15761153 details
TGFR1_HUMANOCLN_HUMANBioGRID, HPRD15761153 details
TGFR1_HUMANSPTB2_HUMANBioGRID12543979 details
TGFR1_HUMANANK1_HUMANBioGRID12543979 details
TGFR1_HUMANTPM1_HUMANBioGRID12543979 details
TGFR1_HUMANPEG10_HUMANBioGRID15611116 details
TGFR1_HUMANACVL1_HUMANBioGRID, HPRD14580334 8242742 details
TGFR1_HUMANTRAF4_HUMANBioGRID23973329 details
TGFR1_HUMANPSN1_HUMANBioGRID24399296 details
TGFR1_HUMANNOTC1_HUMANBioGRID24399296 details
TGFR1_HUMANPAR6A_HUMANBioGRID, HPRD15761148 15761153 details
TGFR1_HUMANSH3K1_HUMANBioGRID26169354 details
TGFR1_HUMANRASF1_HUMANBioGRID27292796 details
TGFR1_HUMANVHL_HUMANBioGRID29662646 details
TGFR1_HUMANTGFR1_HUMANHPRD9472030 details
TGFR1_HUMANTGFB2_HUMANHPRD11157754 details
TGFR1_HUMANAMHR2_HUMANHPRD11420127 details
TGFR1_HUMANSMAD1_HUMANHPRD10085121 9136927 9748228 details
TGFR1_HUMANBMR1B_HUMANHPRD11420127 details
TGFR1_HUMANZFYV9_HUMANHPRD9865696 details
TGFR1_HUMANPML_HUMANHPRD15356634 details
TGFR1_HUMANCTNB1_HUMANHPRD12000714 details
TGFR1_HUMANAPC5_HUMANHPRD15761153 details
TGFR1_HUMANARL4D_HUMANHPRD15761153 details
TGFR1_HUMANRHG15_HUMANHPRD15761153 details
TGFR1_HUMANARL8B_HUMANHPRD15761153 details
TGFR1_HUMANASH2L_HUMANHPRD15761153 details
TGFR1_HUMANAURKB_HUMANHPRD15761153 details
TGFR1_HUMANBTBD2_HUMANHPRD15761153 details
TGFR1_HUMANCDC20_HUMANHPRD15761153 details
TGFR1_HUMANBORG4_HUMANHPRD15761153 details
TGFR1_HUMANCDK4_HUMANHPRD15761153 details
TGFR1_HUMANCDK6_HUMANHPRD15761153 details
TGFR1_HUMANCDKL1_HUMANHPRD15761153 details
TGFR1_HUMANCHIN_HUMANHPRD15761153 details
TGFR1_HUMANCHIO_HUMANHPRD15761153 details
TGFR1_HUMANIKKA_HUMANHPRD15761153 details
TGFR1_HUMANKC1A_HUMANHPRD15761153 details
TGFR1_HUMANCSK22_HUMANHPRD15761153 details
TGFR1_HUMANCUL5_HUMANHPRD15761153 details
TGFR1_HUMANDAPK2_HUMANHPRD15761153 details
TGFR1_HUMANPREX2_HUMANHPRD15761153 details
TGFR1_HUMANDS13A_HUMANHPRD15761153 details
TGFR1_HUMANE2AK4_HUMANHPRD15761153 details
TGFR1_HUMANENC1_HUMANHPRD15761153 details
TGFR1_HUMANFANCL_HUMANHPRD15761153 details
TGFR1_HUMANFXL12_HUMANHPRD15761153 details
TGFR1_HUMANGNA13_HUMANHPRD15761153 details
TGFR1_HUMANGBB2_HUMANHPRD15761153 details
TGFR1_HUMANGBB3_HUMANHPRD15761153 details
TGFR1_HUMANIKKB_HUMANHPRD15761153 details
TGFR1_HUMANDCAF6_HUMANHPRD15761153 details
TGFR1_HUMANITK_HUMANHPRD15761153 details
TGFR1_HUMANKTNB1_HUMANHPRD15761153 details
TGFR1_HUMANKLHL1_HUMANHPRD15761153 details
TGFR1_HUMANLIMS1_HUMANHPRD15761153 details
TGFR1_HUMANMYO3A_HUMANHPRD15761153 details
TGFR1_HUMANNAT8_HUMANHPRD15761153 details
TGFR1_HUMANNEK6_HUMANHPRD15761153 details
TGFR1_HUMANNEK8_HUMANHPRD15761153 details
TGFR1_HUMANKBRS1_HUMANHPRD15761153 details
TGFR1_HUMANNUAK2_HUMANHPRD15761153 details
TGFR1_HUMANNUP37_HUMANHPRD15761153 details
TGFR1_HUMANCDK17_HUMANHPRD15761153 details
TGFR1_HUMANCDK14_HUMANHPRD15761153 details
TGFR1_HUMANPKHB1_HUMANHPRD15761153 details
TGFR1_HUMANPLEK_HUMANHPRD15761153 details
TGFR1_HUMANPLK4_HUMANHPRD15761153 details
TGFR1_HUMANPP2BC_HUMANHPRD15761153 details
TGFR1_HUMANPPP6_HUMANHPRD15761153 details
TGFR1_HUMANPREB_HUMANHPRD15761153 details
TGFR1_HUMANPRP4_HUMANHPRD15761153 details
TGFR1_HUMANRAB13_HUMANHPRD15761153 details
TGFR1_HUMANRAB25_HUMANHPRD15761153 details
TGFR1_HUMANRB33B_HUMANHPRD15761153 details
TGFR1_HUMANRAB38_HUMANHPRD15761153 details
TGFR1_HUMANRAB3B_HUMANHPRD15761153 details
TGFR1_HUMANRAB6B_HUMANHPRD15761153 details
TGFR1_HUMANRAN_HUMANHPRD15761153 details
TGFR1_HUMANRAP2A_HUMANHPRD15761153 details
TGFR1_HUMANRHES_HUMANHPRD15761153 details
TGFR1_HUMANRASLC_HUMANHPRD15761153 details
TGFR1_HUMANREBL1_HUMANHPRD15761153 details
TGFR1_HUMANRHOA_HUMANHPRD15761153 details
TGFR1_HUMANRHOD_HUMANHPRD15761153 details
TGFR1_HUMANRHOG_HUMANHPRD15761153 details
TGFR1_HUMANRHOH_HUMANHPRD15761153 details
TGFR1_HUMANRHOJ_HUMANHPRD15761153 details
TGFR1_HUMANRHPN2_HUMANHPRD15761153 details
TGFR1_HUMANGOLI_HUMANHPRD15761153 details
TGFR1_HUMANRN146_HUMANHPRD15761153 details
TGFR1_HUMANRNF5_HUMANHPRD15761153 details
TGFR1_HUMANRS27A_HUMANHPRD15761153 details
TGFR1_HUMANOPSX_HUMANHPRD15761153 details
TGFR1_HUMANRTKN_HUMANHPRD15761153 details
TGFR1_HUMANSAMD8_HUMANHPRD15761153 details
TGFR1_HUMANSAT2_HUMANHPRD15761153 details
TGFR1_HUMANSKAP2_HUMANHPRD15761153 details
TGFR1_HUMANSNTG1_HUMANHPRD15761153 details
TGFR1_HUMANSOCS6_HUMANHPRD15761153 details
TGFR1_HUMANSTK35_HUMANHPRD15761153 details
TGFR1_HUMANCHIP_HUMANHPRD15761153 details
TGFR1_HUMANSTX8_HUMANHPRD15761153 details
TGFR1_HUMANSTYL1_HUMANHPRD15761153 details
TGFR1_HUMANTNNT1_HUMANHPRD15761153 details
TGFR1_HUMANTSSK1_HUMANHPRD15761153 details
TGFR1_HUMANTSSK4_HUMANHPRD15761153 details
TGFR1_HUMANTTC1_HUMANHPRD15761153 details
TGFR1_HUMANRL40_HUMANHPRD15761153 details
TGFR1_HUMANUBB_HUMANHPRD15761153 details
TGFR1_HUMANUBD_HUMANHPRD15761153 details
TGFR1_HUMANUB2E3_HUMANHPRD15761153 details
TGFR1_HUMANUBP45_HUMANHPRD15761153 details
TGFR1_HUMANMELT_HUMANHPRD15761153 details
TGFR1_HUMANWDR13_HUMANHPRD15761153 details
TGFR1_HUMANWDR33_HUMANHPRD15761153 details
TGFR1_HUMANDCA12_HUMANHPRD15761153 details
TGFR1_HUMANWDR61_HUMANHPRD15761153 details
TGFR1_HUMANXIAP_HUMANHPRD11356828 details
TGFR1_HUMANRPAP3_HUMANHPRD15761153 details
TGFR1_HUMANOSR1_HUMANHPRD15761153 details
TGFR1_HUMANUBXN1_HUMANHPRD15761153 details
TGFR1_HUMANKLH35_HUMANHPRD15761153 details
TGFR1_HUMANPKHJ1_HUMANHPRD15761153 details
TGFR1_HUMANTTC27_HUMANHPRD15761153 details
TGFR1_HUMANSG196_HUMANHPRD15761153 details
TGFR1_HUMANTTPAL_HUMANHPRD15761153 details
TGFR1_HUMANRHG31_HUMANHPRD15761153 details
TGFR1_HUMANUBE2Z_HUMANHPRD15761153 details
TGFR1_HUMANRGS19_HUMANHPRD15761153 details
TGFR1_HUMANSQSTM_HUMANHPRD15761153 details