UniProtKB - P36897 (TGFR1_HUMAN)
TGF-beta receptor type-1
TGFBR1
Functioni
Caution
Catalytic activityi
Cofactori
Activity regulationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 232 | ATPPROSITE-ProRule annotation | 1 | |
Active sitei | 333 | Proton acceptorPROSITE-ProRule annotation | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 211 – 219 | ATPPROSITE-ProRule annotation | 9 |
GO - Molecular functioni
- activin binding Source: GO_Central
- activin receptor activity, type I Source: GO_Central
- ATP binding Source: HGNC-UCL
- I-SMAD binding Source: BHF-UCL
- metal ion binding Source: UniProtKB-KW
- protein kinase activity Source: BHF-UCL
- protein serine/threonine kinase activity Source: HGNC-UCL
- SMAD binding Source: HGNC-UCL
- transforming growth factor beta-activated receptor activity Source: BHF-UCL
- transforming growth factor beta binding Source: HGNC-UCL
- transforming growth factor beta receptor activity, type I Source: BHF-UCL
- type II transforming growth factor beta receptor binding Source: BHF-UCL
GO - Biological processi
- activation of MAPKK activity Source: BHF-UCL
- activin receptor signaling pathway Source: AgBase
- angiogenesis involved in coronary vascular morphogenesis Source: BHF-UCL
- anterior/posterior pattern specification Source: BHF-UCL
- apoptotic process Source: UniProtKB-KW
- artery morphogenesis Source: BHF-UCL
- blastocyst development Source: Ensembl
- cardiac epithelial to mesenchymal transition Source: AgBase
- cell cycle arrest Source: UniProtKB
- cell motility Source: BHF-UCL
- cellular response to growth factor stimulus Source: GO_Central
- cellular response to transforming growth factor beta stimulus Source: BHF-UCL
- collagen fibril organization Source: BHF-UCL
- coronary artery morphogenesis Source: BHF-UCL
- embryonic cranial skeleton morphogenesis Source: BHF-UCL
- endothelial cell activation Source: AgBase
- endothelial cell migration Source: Ensembl
- epicardium morphogenesis Source: BHF-UCL
- epithelial to mesenchymal transition Source: UniProtKB
- extracellular structure organization Source: UniProtKB
- germ cell migration Source: BHF-UCL
- heart development Source: AgBase
- intracellular signal transduction Source: AgBase
- in utero embryonic development Source: BHF-UCL
- kidney development Source: BHF-UCL
- lens development in camera-type eye Source: Ensembl
- male gonad development Source: Ensembl
- mesenchymal cell differentiation Source: AgBase
- negative regulation of chondrocyte differentiation Source: BHF-UCL
- negative regulation of endothelial cell proliferation Source: Ensembl
- negative regulation of extrinsic apoptotic signaling pathway Source: BHF-UCL
- negative regulation of transforming growth factor beta receptor signaling pathway Source: Reactome
- nervous system development Source: GO_Central
- neuron fate commitment Source: BHF-UCL
- parathyroid gland development Source: BHF-UCL
- pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
- peptidyl-serine phosphorylation Source: UniProtKB
- peptidyl-threonine phosphorylation Source: BHF-UCL
- pharyngeal system development Source: BHF-UCL
- positive regulation of apoptotic signaling pathway Source: UniProtKB
- positive regulation of cell growth Source: BHF-UCL
- positive regulation of cell migration Source: BHF-UCL
- positive regulation of cell population proliferation Source: HGNC-UCL
- positive regulation of cellular component movement Source: BHF-UCL
- positive regulation of endothelial cell proliferation Source: AgBase
- positive regulation of epithelial to mesenchymal transition Source: BHF-UCL
- positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation Source: BHF-UCL
- positive regulation of filopodium assembly Source: Ensembl
- positive regulation of gene expression Source: BHF-UCL
- positive regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
- positive regulation of protein kinase B signaling Source: BHF-UCL
- positive regulation of SMAD protein signal transduction Source: BHF-UCL
- positive regulation of stress fiber assembly Source: BHF-UCL
- positive regulation of tight junction disassembly Source: BHF-UCL
- positive regulation of transcription, DNA-templated Source: BHF-UCL
- post-embryonic development Source: Ensembl
- protein deubiquitination Source: Reactome
- protein phosphorylation Source: BHF-UCL
- regulation of cardiac muscle cell proliferation Source: BHF-UCL
- regulation of epithelial to mesenchymal transition Source: AgBase
- regulation of gene expression Source: AgBase
- regulation of protein binding Source: Ensembl
- regulation of protein ubiquitination Source: UniProtKB
- regulation of transcription, DNA-templated Source: HGNC-UCL
- response to cholesterol Source: BHF-UCL
- roof of mouth development Source: BHF-UCL
- signal transduction Source: HGNC-UCL
- skeletal system development Source: BHF-UCL
- skeletal system morphogenesis Source: BHF-UCL
- thymus development Source: BHF-UCL
- transforming growth factor beta receptor signaling pathway Source: BHF-UCL
- ventricular compact myocardium morphogenesis Source: BHF-UCL
- ventricular septum morphogenesis Source: BHF-UCL
- ventricular trabecula myocardium morphogenesis Source: BHF-UCL
- wound healing Source: UniProtKB
Keywordsi
Molecular function | Kinase, Receptor, Serine/threonine-protein kinase, Transferase |
Biological process | Apoptosis, Differentiation, Growth regulation |
Ligand | ATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 2.7.10.2, 2681 2.7.11.30, 2681 |
PathwayCommonsi | P36897 |
Reactomei | R-HSA-2173788, Downregulation of TGF-beta receptor signaling R-HSA-2173789, TGF-beta receptor signaling activates SMADs R-HSA-2173791, TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) R-HSA-3304356, SMAD2/3 Phosphorylation Motif Mutants in Cancer R-HSA-3645790, TGFBR2 Kinase Domain Mutants in Cancer R-HSA-3656532, TGFBR1 KD Mutants in Cancer R-HSA-3656535, TGFBR1 LBD Mutants in Cancer R-HSA-5689603, UCH proteinases R-HSA-5689880, Ub-specific processing proteases |
SignaLinki | P36897 |
SIGNORi | P36897 |
Names & Taxonomyi
Protein namesi | Recommended name: TGF-beta receptor type-1 (EC:2.7.11.30)Short name: TGFR-1 Alternative name(s): Activin A receptor type II-like protein kinase of 53kD Activin receptor-like kinase 5 Short name: ALK-5 Short name: ALK5 Serine/threonine-protein kinase receptor R4 Short name: SKR4 TGF-beta type I receptor Transforming growth factor-beta receptor type I Short name: TGF-beta receptor type I Short name: TbetaR-I |
Gene namesi | Name:TGFBR1 Synonyms:ALK5, SKR4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000106799.12 |
HGNCi | HGNC:11772, TGFBR1 |
MIMi | 190181, gene |
neXtProti | NX_P36897 |
Subcellular locationi
Plasma membrane
- Cell membrane 2 Publications; Single-pass type I membrane protein 1 Publication
Other locations
- tight junction 1 Publication
- Cell surface 1 Publication
- Membrane raft 1 Publication
Endosome
- endosome Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB
Plasma Membrane
- activin receptor complex Source: GO_Central
- plasma membrane Source: UniProtKB
Other locations
- bicellular tight junction Source: UniProtKB
- cell surface Source: UniProtKB
- membrane Source: AgBase
- membrane raft Source: UniProtKB
- receptor complex Source: BHF-UCL
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 34 – 126 | ExtracellularSequence analysisAdd BLAST | 93 | |
Transmembranei | 127 – 147 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 148 – 503 | CytoplasmicSequence analysisAdd BLAST | 356 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Membrane, Tight junctionPathology & Biotechi
Involvement in diseasei
Loeys-Dietz syndrome 1 (LDS1)6 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_022344 | 200 | T → I in LDS1. 1 PublicationCorresponds to variant dbSNP:rs121918712EnsemblClinVar. | 1 | |
Natural variantiVAR_029481 | 232 | K → E in LDS1. 1 Publication | 1 | |
Natural variantiVAR_029482 | 241 | S → L in LDS1. 2 PublicationsCorresponds to variant dbSNP:rs111854391EnsemblClinVar. | 1 | |
Natural variantiVAR_066720 | 266 | D → Y in LDS1. 1 Publication | 1 | |
Natural variantiVAR_022345 | 318 | M → R in LDS1. 1 PublicationCorresponds to variant dbSNP:rs121918710EnsemblClinVar. | 1 | |
Natural variantiVAR_066721 | 351 | D → G in LDS1. 1 Publication | 1 | |
Natural variantiVAR_066722 | 375 | T → R in LDS1. 1 Publication | 1 | |
Natural variantiVAR_022346 | 400 | D → G in LDS1. 1 PublicationCorresponds to variant dbSNP:rs121918711EnsemblClinVar. | 1 | |
Natural variantiVAR_022347 | 487 | R → P in LDS1. 2 PublicationsCorresponds to variant dbSNP:rs113605875EnsemblClinVar. | 1 | |
Natural variantiVAR_029484 | 487 | R → Q in LDS1. 3 PublicationsCorresponds to variant dbSNP:rs113605875EnsemblClinVar. | 1 | |
Natural variantiVAR_029485 | 487 | R → W in LDS1. 1 PublicationCorresponds to variant dbSNP:rs111426349EnsemblClinVar. | 1 |
Multiple self-healing squamous epithelioma (MSSE)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065826 | 41 | C → Y in MSSE; hypomorphic mutation. 1 Publication | 1 | |
Natural variantiVAR_065827 | 45 | N → S in MSSE; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs387906696EnsemblClinVar. | 1 | |
Natural variantiVAR_065828 | 52 | G → R in MSSE; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs587776865EnsemblClinVar. | 1 | |
Natural variantiVAR_065829 | 83 | P → L in MSSE; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs757374917Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 185 – 186 | TT → VV: Loss of phosphorylation on threonine residues. Loss of threonine phosphorylation, reduced phosphorylation on serine residues and loss of response to TGF-beta; when associated with A-187; A-189 and A-191. 1 Publication | 2 | |
Mutagenesisi | 187 | S → A: Loss of threonine phosphorylation, reduced phosphorylation on serine residues and loss of response to TGF-beta; when associated with 185-VV-186; A-189 and A-191. 1 Publication | 1 | |
Mutagenesisi | 189 | S → A: Loss of threonine phosphorylation, reduced phosphorylation on serine residues and loss of response to TGF-beta; when associated with 185-VV-186; A-187 and A-191. 1 Publication | 1 | |
Mutagenesisi | 191 | S → A: Loss of threonine phosphorylation, reduced phosphorylation on serine residues and loss of response to TGF-beta; when associated with 185-VV-186; A-187 and A-189. 1 Publication | 1 | |
Mutagenesisi | 193 | L → G: Loss of interaction with FKBP1A. 1 Publication | 1 | |
Mutagenesisi | 194 | P → K: Loss of interaction with FKBP1A. 1 Publication | 1 | |
Mutagenesisi | 200 | T → D: Loss of response to TGF-beta. 1 Publication | 1 | |
Mutagenesisi | 200 | T → V: Loss of phosphorylation. Loss of response to TGF-beta. 1 Publication | 1 | |
Mutagenesisi | 204 | T → D: Constitutive activation. 1 Publication | 1 | |
Mutagenesisi | 204 | T → V: Reduced phosphorylation. Reduced response to TGF-beta. 1 Publication | 1 |
Keywords - Diseasei
Aortic aneurysm, Craniosynostosis, Disease mutationOrganism-specific databases
DisGeNETi | 7046 |
GeneReviewsi | TGFBR1 |
MalaCardsi | TGFBR1 |
MIMi | 132800, phenotype 609192, phenotype |
OpenTargetsi | ENSG00000106799 |
Orphaneti | 91387, Familial thoracic aortic aneurysm and aortic dissection 60030, Loeys-Dietz syndrome 65748, Multiple self-healing squamous epithelioma |
PharmGKBi | PA36485 |
Miscellaneous databases
Pharosi | P36897, Tchem |
Chemistry databases
ChEMBLi | CHEMBL4439 |
DrugBanki | DB07267, 2-(6-methylpyridin-2-yl)-N-pyridin-4-ylquinazolin-4-amine DB04480, 3-(4-Fluorophenyl)-2-(6-Methylpyridin-2-Yl)-5,6-Dihydro-4h-Pyrrolo[1,2-B]Pyrazole DB03921, 4-(3-Pyridin-2-Yl-1h-Pyrazol-4-Yl)Quinoline DB12010, Fostamatinib DB08450, N-1H-indazol-5-yl-2-(6-methylpyridin-2-yl)quinazolin-4-amine DB07152, N-[4-(5-fluoro-6-methylpyridin-2-yl)-5-quinoxalin-6-yl-1H-imidazol-2-yl]acetamide DB04434, Naphthyridine Inhibitor |
DrugCentrali | P36897 |
GuidetoPHARMACOLOGYi | 1788 |
Polymorphism and mutation databases
BioMutai | TGFBR1 |
DMDMi | 547777 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 33 | 1 PublicationAdd BLAST | 33 | |
ChainiPRO_0000024423 | 34 – 503 | TGF-beta receptor type-1Add BLAST | 470 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 36 ↔ 54 | 2 Publications | ||
Disulfide bondi | 38 ↔ 41 | 2 Publications | ||
Glycosylationi | 45 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 48 ↔ 71 | 2 Publications | ||
Disulfide bondi | 86 ↔ 100 | 2 Publications | ||
Disulfide bondi | 101 ↔ 106 | 2 Publications | ||
Modified residuei | 165 | PhosphoserineCombined sources | 1 | |
Modified residuei | 185 | Phosphothreonine; by TGFBR21 Publication | 1 | |
Modified residuei | 186 | Phosphothreonine; by TGFBR21 Publication | 1 | |
Modified residuei | 187 | Phosphoserine; by TGFBR21 Publication | 1 | |
Modified residuei | 189 | Phosphoserine; by TGFBR21 Publication | 1 | |
Modified residuei | 191 | Phosphoserine; by TGFBR21 Publication | 1 | |
Cross-linki | 391 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, Glycoprotein, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | P36897 |
jPOSTi | P36897 |
MassIVEi | P36897 |
PaxDbi | P36897 |
PeptideAtlasi | P36897 |
PRIDEi | P36897 |
ProteomicsDBi | 55234 [P36897-1] 55235 [P36897-2] 55236 [P36897-3] |
PTM databases
GlyGeni | P36897, 1 site |
iPTMneti | P36897 |
PhosphoSitePlusi | P36897 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000106799, Expressed in decidua and 220 other tissues |
ExpressionAtlasi | P36897, baseline and differential |
Genevisiblei | P36897, HS |
Organism-specific databases
HPAi | ENSG00000106799, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer; in the endoplasmic reticulum but also at the cell membrane. Heterohexamer; TGFB1, TGFB2 and TGFB3 homodimeric ligands assemble a functional receptor composed of two TGFBR1 and TGFBR2 heterodimers to form a ligand-receptor heterohexamer. The respective affinity of TGBRB1 and TGFBR2 for the ligands may modulate the kinetics of assembly of the receptor and may explain the different biological activities of TGFB1, TGFB2 and TGFB3.
Interacts with CD109; inhibits TGF-beta receptor activation in keratinocytes.
Interacts with RBPMS.
Interacts (unphosphorylated) with FKBP1A; prevents TGFBR1 phosphorylation by TGFBR2 and stabilizes it in the inactive conformation.
Interacts with SMAD2, SMAD3 and ZFYVE9; ZFYVE9 recruits SMAD2 and SMAD3 to the TGF-beta receptor.
Interacts with TRAF6 and MAP3K7; induces MAP3K7 activation by TRAF6.
Interacts with PARD6A; involved in TGF-beta induced epithelial to mesenchymal transition.
Interacts with SMAD7, NEDD4L, SMURF1 and SMURF2; SMAD7 recruits NEDD4L, SMURF1 and SMURF2 to the TGF-beta receptor.
Interacts with USP15 and VPS39.
Interacts with SDCBP (via C-terminus) (PubMed:25893292)
Interacts with CAV1 and this interaction is impaired in the presence of SDCBP (PubMed:25893292).
Interacts with APPL1; interaction is TGF beta dependent; mediates trafficking of the TGFBR1 from the endosomes to the nucleus via microtubules in a TRAF6-dependent manner (PubMed:26583432).
22 PublicationsBinary interactionsi
Hide detailsP36897
Isoform 1 [P36897-1]
With | #Exp. | IntAct |
---|---|---|
LRG1 [P02750] | 6 | EBI-16065417,EBI-9083443 |
GO - Molecular functioni
- I-SMAD binding Source: BHF-UCL
- SMAD binding Source: HGNC-UCL
- transforming growth factor beta binding Source: HGNC-UCL
- type II transforming growth factor beta receptor binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 112904, 199 interactors |
ComplexPortali | CPX-2544, TGF-beta-3-TGFR complex CPX-529, TGF-beta-1-TGFR complex CPX-834, TGF-beta-2-TGFR complex |
CORUMi | P36897 |
DIPi | DIP-5935N |
IntActi | P36897, 24 interactors |
MINTi | P36897 |
STRINGi | 9606.ENSP00000364133 |
Miscellaneous databases
RNActi | P36897, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | P36897 |
SMRi | P36897 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P36897 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 175 – 204 | GSPROSITE-ProRule annotationAdd BLAST | 30 | |
Domaini | 205 – 495 | Protein kinasePROSITE-ProRule annotationAdd BLAST | 291 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 193 – 194 | FKBP1A-binding | 2 |
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2052, Eukaryota |
GeneTreei | ENSGT00940000156394 |
HOGENOMi | CLU_000288_8_1_1 |
InParanoidi | P36897 |
OMAi | LMIYICH |
PhylomeDBi | P36897 |
TreeFami | TF314724 |
Family and domain databases
IDEALi | IID00413 |
InterProi | View protein in InterPro IPR000472, Activin_recp IPR003605, GS_dom IPR011009, Kinase-like_dom_sf IPR000719, Prot_kinase_dom IPR017441, Protein_kinase_ATP_BS IPR008271, Ser/Thr_kinase_AS IPR000333, TGFB_receptor |
PANTHERi | PTHR23255, PTHR23255, 1 hit |
Pfami | View protein in Pfam PF01064, Activin_recp, 1 hit PF00069, Pkinase, 1 hit PF08515, TGF_beta_GS, 1 hit |
SMARTi | View protein in SMART SM00467, GS, 1 hit SM00220, S_TKc, 1 hit |
SUPFAMi | SSF56112, SSF56112, 1 hit |
PROSITEi | View protein in PROSITE PS51256, GS, 1 hit PS00107, PROTEIN_KINASE_ATP, 1 hit PS50011, PROTEIN_KINASE_DOM, 1 hit PS00108, PROTEIN_KINASE_ST, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEAAVAAPRP RLLLLVLAAA AAAAAALLPG ATALQCFCHL CTKDNFTCVT
60 70 80 90 100
DGLCFVSVTE TTDKVIHNSM CIAEIDLIPR DRPFVCAPSS KTGSVTTTYC
110 120 130 140 150
CNQDHCNKIE LPTTVKSSPG LGPVELAAVI AGPVCFVCIS LMLMVYICHN
160 170 180 190 200
RTVIHHRVPN EEDPSLDRPF ISEGTTLKDL IYDMTTSGSG SGLPLLVQRT
210 220 230 240 250
IARTIVLQES IGKGRFGEVW RGKWRGEEVA VKIFSSREER SWFREAEIYQ
260 270 280 290 300
TVMLRHENIL GFIAADNKDN GTWTQLWLVS DYHEHGSLFD YLNRYTVTVE
310 320 330 340 350
GMIKLALSTA SGLAHLHMEI VGTQGKPAIA HRDLKSKNIL VKKNGTCCIA
360 370 380 390 400
DLGLAVRHDS ATDTIDIAPN HRVGTKRYMA PEVLDDSINM KHFESFKRAD
410 420 430 440 450
IYAMGLVFWE IARRCSIGGI HEDYQLPYYD LVPSDPSVEE MRKVVCEQKL
460 470 480 490 500
RPNIPNRWQS CEALRVMAKI MRECWYANGA ARLTALRIKK TLSQLSQQEG
IKM
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB4DY26 | B4DY26_HUMAN | Receptor protein serine/threonine k... | TGFBR1 | 434 | Annotation score: | ||
F8W1R9 | F8W1R9_HUMAN | Receptor protein serine/threonine k... | TGFBR1 | 383 | Annotation score: | ||
F8VXZ5 | F8VXZ5_HUMAN | Receptor protein serine/threonine k... | TGFBR1 | 114 | Annotation score: | ||
F8VRH6 | F8VRH6_HUMAN | TGF-beta receptor type-1 | TGFBR1 | 114 | Annotation score: | ||
F8W0K6 | F8W0K6_HUMAN | TGF-beta receptor type-1 | TGFBR1 | 126 | Annotation score: | ||
H0YHS4 | H0YHS4_HUMAN | TGF-beta receptor type-1 | TGFBR1 | 122 | Annotation score: | ||
F8VVC4 | F8VVC4_HUMAN | TGF-beta receptor type-1 | TGFBR1 | 118 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_022342 | 24 – 26 | Missing in allele TGFBR1*6A; could be a tumor susceptibility allele. | 3 | |
Natural variantiVAR_022343 | 26 | A → AA in allele TGFBR1*10A; rare polymorphism. 1 Publication | 1 | |
Natural variantiVAR_065826 | 41 | C → Y in MSSE; hypomorphic mutation. 1 Publication | 1 | |
Natural variantiVAR_065827 | 45 | N → S in MSSE; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs387906696EnsemblClinVar. | 1 | |
Natural variantiVAR_065828 | 52 | G → R in MSSE; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs587776865EnsemblClinVar. | 1 | |
Natural variantiVAR_065829 | 83 | P → L in MSSE; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs757374917Ensembl. | 1 | |
Natural variantiVAR_054160 | 139 | I → V1 PublicationCorresponds to variant dbSNP:rs148176750EnsemblClinVar. | 1 | |
Natural variantiVAR_041412 | 153 | V → I1 PublicationCorresponds to variant dbSNP:rs56014374EnsemblClinVar. | 1 | |
Natural variantiVAR_022344 | 200 | T → I in LDS1. 1 PublicationCorresponds to variant dbSNP:rs121918712EnsemblClinVar. | 1 | |
Natural variantiVAR_029481 | 232 | K → E in LDS1. 1 Publication | 1 | |
Natural variantiVAR_029482 | 241 | S → L in LDS1. 2 PublicationsCorresponds to variant dbSNP:rs111854391EnsemblClinVar. | 1 | |
Natural variantiVAR_066720 | 266 | D → Y in LDS1. 1 Publication | 1 | |
Natural variantiVAR_029483 | 267 | N → H in a patient with Marfan syndrome. 1 Publication | 1 | |
Natural variantiVAR_041413 | 291 | Y → C1 PublicationCorresponds to variant dbSNP:rs35974499Ensembl. | 1 | |
Natural variantiVAR_022345 | 318 | M → R in LDS1. 1 PublicationCorresponds to variant dbSNP:rs121918710EnsemblClinVar. | 1 | |
Natural variantiVAR_066721 | 351 | D → G in LDS1. 1 Publication | 1 | |
Natural variantiVAR_066722 | 375 | T → R in LDS1. 1 Publication | 1 | |
Natural variantiVAR_022346 | 400 | D → G in LDS1. 1 PublicationCorresponds to variant dbSNP:rs121918711EnsemblClinVar. | 1 | |
Natural variantiVAR_022347 | 487 | R → P in LDS1. 2 PublicationsCorresponds to variant dbSNP:rs113605875EnsemblClinVar. | 1 | |
Natural variantiVAR_029484 | 487 | R → Q in LDS1. 3 PublicationsCorresponds to variant dbSNP:rs113605875EnsemblClinVar. | 1 | |
Natural variantiVAR_029485 | 487 | R → W in LDS1. 1 PublicationCorresponds to variant dbSNP:rs111426349EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_041326 | 114 | T → TGPFS in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_041327 | 115 – 191 | Missing in isoform 3. 1 PublicationAdd BLAST | 77 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L11695 mRNA Translation: AAA16073.1 AF054598 , AF054590, AF054591, AF054592, AF054593, AF054594, AF054595, AF054596, AF054597 Genomic DNA Translation: AAC08998.1 AF035670 , AF035662, AF035663, AF035664, AF035665, AF035666, AF035667, AF035668, AF035669 Genomic DNA Translation: AAD02042.1 AY497473 Genomic DNA Translation: AAR32097.1 AL162427 Genomic DNA No translation available. BC071181 mRNA Translation: AAH71181.1 AJ619019 mRNA Translation: CAF02096.2 AJ619020 mRNA Translation: CAF02097.1 |
CCDSi | CCDS47998.1 [P36897-3] CCDS6738.1 [P36897-1] CCDS78413.1 [P36897-2] |
PIRi | A49432 |
RefSeqi | NP_001124388.1, NM_001130916.2 [P36897-3] NP_001293139.1, NM_001306210.1 [P36897-2] NP_004603.1, NM_004612.3 [P36897-1] |
Genome annotation databases
Ensembli | ENST00000374990; ENSP00000364129; ENSG00000106799 [P36897-3] ENST00000374994; ENSP00000364133; ENSG00000106799 [P36897-1] ENST00000552516; ENSP00000447297; ENSG00000106799 [P36897-2] |
GeneIDi | 7046 |
KEGGi | hsa:7046 |
UCSCi | uc004azd.4, human [P36897-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L11695 mRNA Translation: AAA16073.1 AF054598 , AF054590, AF054591, AF054592, AF054593, AF054594, AF054595, AF054596, AF054597 Genomic DNA Translation: AAC08998.1 AF035670 , AF035662, AF035663, AF035664, AF035665, AF035666, AF035667, AF035668, AF035669 Genomic DNA Translation: AAD02042.1 AY497473 Genomic DNA Translation: AAR32097.1 AL162427 Genomic DNA No translation available. BC071181 mRNA Translation: AAH71181.1 AJ619019 mRNA Translation: CAF02096.2 AJ619020 mRNA Translation: CAF02097.1 |
CCDSi | CCDS47998.1 [P36897-3] CCDS6738.1 [P36897-1] CCDS78413.1 [P36897-2] |
PIRi | A49432 |
RefSeqi | NP_001124388.1, NM_001130916.2 [P36897-3] NP_001293139.1, NM_001306210.1 [P36897-2] NP_004603.1, NM_004612.3 [P36897-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1B6C | X-ray | 2.60 | B/D/F/H | 162-503 | [»] | |
1IAS | X-ray | 2.90 | A/B/C/D/E | 162-503 | [»] | |
1PY5 | X-ray | 2.30 | A | 175-500 | [»] | |
1RW8 | X-ray | 2.40 | A | 200-500 | [»] | |
1TBI | model | - | A | 34-114 | [»] | |
1VJY | X-ray | 2.00 | A | 201-503 | [»] | |
2L5S | NMR | - | A | 31-115 | [»] | |
2PJY | X-ray | 3.00 | C | 33-111 | [»] | |
2WOT | X-ray | 1.85 | A | 200-503 | [»] | |
2WOU | X-ray | 2.30 | A | 200-503 | [»] | |
2X7O | X-ray | 3.70 | A/B/C/D/E | 162-503 | [»] | |
3FAA | X-ray | 3.35 | A/B/C/D/E | 162-503 | [»] | |
3GXL | X-ray | 1.80 | A | 201-503 | [»] | |
3HMM | X-ray | 1.70 | A | 201-503 | [»] | |
3KCF | X-ray | 2.80 | A/B/C/D/E | 162-503 | [»] | |
3KFD | X-ray | 3.00 | I/J/K/L | 31-115 | [»] | |
3TZM | X-ray | 1.70 | A | 200-503 | [»] | |
4X0M | X-ray | 1.68 | A | 200-503 | [»] | |
4X2F | X-ray | 1.49 | A | 200-503 | [»] | |
4X2G | X-ray | 1.51 | A | 200-503 | [»] | |
4X2J | X-ray | 1.69 | A | 200-503 | [»] | |
4X2K | X-ray | 1.69 | A | 200-503 | [»] | |
4X2N | X-ray | 1.80 | A | 200-503 | [»] | |
5E8S | X-ray | 1.45 | A | 200-503 | [»] | |
5E8T | X-ray | 1.70 | A | 200-503 | [»] | |
5E8U | X-ray | 2.03 | A | 200-503 | [»] | |
5E8W | X-ray | 1.86 | A | 200-503 | [»] | |
5E8X | X-ray | 1.45 | A | 200-503 | [»] | |
5E8Z | X-ray | 1.51 | A | 200-503 | [»] | |
5E90 | X-ray | 2.05 | A | 200-503 | [»] | |
5FRI | X-ray | 2.00 | A | 200-498 | [»] | |
5QIK | X-ray | 1.58 | A | 200-503 | [»] | |
5QIL | X-ray | 1.98 | A | 200-503 | [»] | |
5QIM | X-ray | 1.75 | A | 200-503 | [»] | |
5QTZ | X-ray | 1.83 | A | 200-503 | [»] | |
5QU0 | X-ray | 1.67 | A | 200-503 | [»] | |
5USQ | X-ray | 2.55 | A | 200-498 | [»] | |
6B8Y | X-ray | 1.65 | A | 200-503 | [»] | |
6MAC | X-ray | 2.34 | K | 33-112 | [»] | |
BMRBi | P36897 | |||||
SMRi | P36897 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112904, 199 interactors |
ComplexPortali | CPX-2544, TGF-beta-3-TGFR complex CPX-529, TGF-beta-1-TGFR complex CPX-834, TGF-beta-2-TGFR complex |
CORUMi | P36897 |
DIPi | DIP-5935N |
IntActi | P36897, 24 interactors |
MINTi | P36897 |
STRINGi | 9606.ENSP00000364133 |
Chemistry databases
ChEMBLi | CHEMBL4439 |
DrugBanki | DB07267, 2-(6-methylpyridin-2-yl)-N-pyridin-4-ylquinazolin-4-amine DB04480, 3-(4-Fluorophenyl)-2-(6-Methylpyridin-2-Yl)-5,6-Dihydro-4h-Pyrrolo[1,2-B]Pyrazole DB03921, 4-(3-Pyridin-2-Yl-1h-Pyrazol-4-Yl)Quinoline DB12010, Fostamatinib DB08450, N-1H-indazol-5-yl-2-(6-methylpyridin-2-yl)quinazolin-4-amine DB07152, N-[4-(5-fluoro-6-methylpyridin-2-yl)-5-quinoxalin-6-yl-1H-imidazol-2-yl]acetamide DB04434, Naphthyridine Inhibitor |
DrugCentrali | P36897 |
GuidetoPHARMACOLOGYi | 1788 |
PTM databases
GlyGeni | P36897, 1 site |
iPTMneti | P36897 |
PhosphoSitePlusi | P36897 |
Polymorphism and mutation databases
BioMutai | TGFBR1 |
DMDMi | 547777 |
Proteomic databases
EPDi | P36897 |
jPOSTi | P36897 |
MassIVEi | P36897 |
PaxDbi | P36897 |
PeptideAtlasi | P36897 |
PRIDEi | P36897 |
ProteomicsDBi | 55234 [P36897-1] 55235 [P36897-2] 55236 [P36897-3] |
Protocols and materials databases
Antibodypediai | 29038, 588 antibodies |
DNASUi | 7046 |
Genome annotation databases
Ensembli | ENST00000374990; ENSP00000364129; ENSG00000106799 [P36897-3] ENST00000374994; ENSP00000364133; ENSG00000106799 [P36897-1] ENST00000552516; ENSP00000447297; ENSG00000106799 [P36897-2] |
GeneIDi | 7046 |
KEGGi | hsa:7046 |
UCSCi | uc004azd.4, human [P36897-1] |
Organism-specific databases
CTDi | 7046 |
DisGeNETi | 7046 |
EuPathDBi | HostDB:ENSG00000106799.12 |
GeneCardsi | TGFBR1 |
GeneReviewsi | TGFBR1 |
HGNCi | HGNC:11772, TGFBR1 |
HPAi | ENSG00000106799, Low tissue specificity |
MalaCardsi | TGFBR1 |
MIMi | 132800, phenotype 190181, gene 609192, phenotype |
neXtProti | NX_P36897 |
OpenTargetsi | ENSG00000106799 |
Orphaneti | 91387, Familial thoracic aortic aneurysm and aortic dissection 60030, Loeys-Dietz syndrome 65748, Multiple self-healing squamous epithelioma |
PharmGKBi | PA36485 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2052, Eukaryota |
GeneTreei | ENSGT00940000156394 |
HOGENOMi | CLU_000288_8_1_1 |
InParanoidi | P36897 |
OMAi | LMIYICH |
PhylomeDBi | P36897 |
TreeFami | TF314724 |
Enzyme and pathway databases
BRENDAi | 2.7.10.2, 2681 2.7.11.30, 2681 |
PathwayCommonsi | P36897 |
Reactomei | R-HSA-2173788, Downregulation of TGF-beta receptor signaling R-HSA-2173789, TGF-beta receptor signaling activates SMADs R-HSA-2173791, TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) R-HSA-3304356, SMAD2/3 Phosphorylation Motif Mutants in Cancer R-HSA-3645790, TGFBR2 Kinase Domain Mutants in Cancer R-HSA-3656532, TGFBR1 KD Mutants in Cancer R-HSA-3656535, TGFBR1 LBD Mutants in Cancer R-HSA-5689603, UCH proteinases R-HSA-5689880, Ub-specific processing proteases |
SignaLinki | P36897 |
SIGNORi | P36897 |
Miscellaneous databases
BioGRID-ORCSi | 7046, 36 hits in 856 CRISPR screens |
ChiTaRSi | TGFBR1, human |
EvolutionaryTracei | P36897 |
GeneWikii | TGF_beta_receptor_1 |
GenomeRNAii | 7046 |
Pharosi | P36897, Tchem |
PROi | PR:P36897 |
RNActi | P36897, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000106799, Expressed in decidua and 220 other tissues |
ExpressionAtlasi | P36897, baseline and differential |
Genevisiblei | P36897, HS |
Family and domain databases
IDEALi | IID00413 |
InterProi | View protein in InterPro IPR000472, Activin_recp IPR003605, GS_dom IPR011009, Kinase-like_dom_sf IPR000719, Prot_kinase_dom IPR017441, Protein_kinase_ATP_BS IPR008271, Ser/Thr_kinase_AS IPR000333, TGFB_receptor |
PANTHERi | PTHR23255, PTHR23255, 1 hit |
Pfami | View protein in Pfam PF01064, Activin_recp, 1 hit PF00069, Pkinase, 1 hit PF08515, TGF_beta_GS, 1 hit |
SMARTi | View protein in SMART SM00467, GS, 1 hit SM00220, S_TKc, 1 hit |
SUPFAMi | SSF56112, SSF56112, 1 hit |
PROSITEi | View protein in PROSITE PS51256, GS, 1 hit PS00107, PROTEIN_KINASE_ATP, 1 hit PS50011, PROTEIN_KINASE_DOM, 1 hit PS00108, PROTEIN_KINASE_ST, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TGFR1_HUMAN | |
Accessioni | P36897Primary (citable) accession number: P36897 Secondary accession number(s): Q6IR47, Q706C0, Q706C1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | June 1, 1994 | |
Last modified: | December 2, 2020 | |
This is version 229 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human and mouse protein kinases
Human and mouse protein kinases: classification and index