| Nomenclature |
|---|
| HGNC (Hugo) | TGFBR1 11772 |
| Cards |
|---|
| Entrez_Gene (NCBI) | TGFBR1 7046 transforming growth factor beta receptor 1 |
| Aliases | AAT5; ACVRLK4; ALK-5; ALK5; |
| ESS1; LDS1; LDS1A; LDS2A; MSSE; SKR4; TBR-i; TBRI; TGFR-1; tbetaR-I |
| GeneCards (Weizmann) | TGFBR1 |
| Ensembl hg19 (Hinxton) | ENSG00000106799 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000106799 [Gene_View] ENSG00000106799 [Sequence] chr9:99105089-99154191 [Contig_View] TGFBR1 [Vega] |
| ICGC DataPortal | ENSG00000106799 |
| TCGA cBioPortal | TGFBR1 |
| AceView (NCBI) | TGFBR1 |
| Genatlas (Paris) | TGFBR1 |
| WikiGenes | 7046 |
| SOURCE (Princeton) | TGFBR1 |
| Genetics Home Reference (NIH) | TGFBR1 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | TGFBR1 - chr9:99105089-99154191 + 9q22.33 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | TGFBR1 - 9q22.33 [Description] (hg19-Feb_2009) |
| GoldenPath | TGFBR1 - 9q22.33 [CytoView hg19] TGFBR1 - 9q22.33 [CytoView hg38] |
| ImmunoBase | ENSG00000106799 |
| Mapping of homologs : NCBI | TGFBR1 [Mapview hg19] TGFBR1 [Mapview hg38] |
| OMIM | 132800 190181 609192 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AJ420419 AJ619019 AJ619020 AK002171 AK129793 |
| RefSeq transcript (Entrez) | NM_001130916 NM_001306210 NM_004612 |
| RefSeq genomic (Entrez) | |
| Consensus coding sequences : CCDS (NCBI) | TGFBR1 |
| Cluster EST : Unigene | Hs.494622 [ NCBI ] |
| CGAP (NCI) | Hs.494622 |
| Alternative Splicing Gallery | ENSG00000106799 |
| Gene Expression | TGFBR1 [ NCBI-GEO ] TGFBR1 [ EBI - ARRAY_EXPRESS ]
TGFBR1 [ SEEK ] TGFBR1 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | TGFBR1 [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Genevestigator | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 7046 |
| GTEX Portal (Tissue expression) | TGFBR1 |
| Human Protein Atlas | ENSG00000106799-TGFBR1 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P36897 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P36897 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P36897 |
| Splice isoforms : SwissVar | P36897 |
| PhosPhoSitePlus | P36897 |
| Domaine pattern : Prosite (Expaxy) | GS (PS51256) PROTEIN_KINASE_ATP (PS00107) PROTEIN_KINASE_DOM (PS50011) PROTEIN_KINASE_ST (PS00108) |
| Domains : Interpro (EBI) | Activin_recp GS_dom Kinase-like_dom_sf Prot_kinase_dom Protein_kinase_ATP_BS Ser/Thr_kinase_AS TGFB_receptor |
| Domain families : Pfam (Sanger) | Activin_recp (PF01064) Pkinase (PF00069) TGF_beta_GS (PF08515) |
| Domain families : Pfam (NCBI) | pfam01064 pfam00069 pfam08515 |
| Domain families : Smart (EMBL) | GS (SM00467) S_TKc (SM00220) |
| Conserved Domain (NCBI) | TGFBR1 |
| DMDM Disease mutations | 7046 |
| Blocks (Seattle) | TGFBR1 |
| PDB (RSDB) | 1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM 4X0M 4X2F 4X2G 4X2J 4X2K 4X2N 5E8S 5E8T 5E8U 5E8W 5E8X 5E8Z 5E90 5FRI 5USQ 6B8Y |
| PDB Europe | 1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM 4X0M 4X2F 4X2G 4X2J 4X2K 4X2N 5E8S 5E8T 5E8U 5E8W 5E8X 5E8Z 5E90 5FRI 5USQ 6B8Y |
| PDB (PDBSum) | 1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM 4X0M 4X2F 4X2G 4X2J 4X2K 4X2N 5E8S 5E8T 5E8U 5E8W 5E8X 5E8Z 5E90 5FRI 5USQ 6B8Y |
| PDB (IMB) | 1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM 4X0M 4X2F 4X2G 4X2J 4X2K 4X2N 5E8S 5E8T 5E8U 5E8W 5E8X 5E8Z 5E90 5FRI 5USQ 6B8Y |
| Structural Biology KnowledgeBase | 1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM 4X0M 4X2F 4X2G 4X2J 4X2K 4X2N 5E8S 5E8T 5E8U 5E8W 5E8X 5E8Z 5E90 5FRI 5USQ 6B8Y |
| SCOP (Structural Classification of Proteins) | 1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM 4X0M 4X2F 4X2G 4X2J 4X2K 4X2N 5E8S 5E8T 5E8U 5E8W 5E8X 5E8Z 5E90 5FRI 5USQ 6B8Y |
| CATH (Classification of proteins structures) | 1B6C 1IAS 1PY5 1RW8 1TBI 1VJY 2L5S 2PJY 2WOT 2WOU 2X7O 3FAA 3GXL 3HMM 3KCF 3KFD 3TZM 4X0M 4X2F 4X2G 4X2J 4X2K 4X2N 5E8S 5E8T 5E8U 5E8W 5E8X 5E8Z 5E90 5FRI 5USQ 6B8Y |
| Superfamily | P36897 |
| Human Protein Atlas [tissue] | ENSG00000106799-TGFBR1 [tissue] |
| Peptide Atlas | P36897 |
| HPRD | 01822 |
| IPI | IPI00005733 IPI01018344 IPI00844074 IPI01014570 IPI01010650 IPI01021053 IPI01021173 IPI01022170 IPI01022370 IPI01021295 IPI01022749 IPI01022905 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | P36897 |
| IntAct (EBI) | P36897 |
| FunCoup | ENSG00000106799 |
| BioGRID | TGFBR1 |
| STRING (EMBL) | TGFBR1 |
| ZODIAC | TGFBR1 |
| Ontologies - Pathways |
|---|
| QuickGO | P36897 |
| Ontology : AmiGO | activation of MAPKK activity skeletal system development in utero embryonic development kidney development blastocyst development epithelial to mesenchymal transition negative regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation lens development in camera-type eye ventricular trabecula myocardium morphogenesis ventricular compact myocardium morphogenesis proepicardium development protein kinase activity protein serine/threonine kinase activity transforming growth factor beta-activated receptor activity transforming growth factor beta-activated receptor activity transforming growth factor beta-activated receptor activity transforming growth factor beta-activated receptor activity transforming growth factor beta-activated receptor activity transforming growth factor beta receptor activity, type I transforming growth factor beta receptor activity, type I type II transforming growth factor beta receptor binding type II transforming growth factor beta receptor binding protein binding ATP binding nucleus endosome plasma membrane plasma membrane integral component of plasma membrane bicellular tight junction regulation of transcription, DNA-templated regulation of transcription, DNA-templated protein phosphorylation apoptotic process cell cycle arrest signal transduction transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway pattern specification process heart development positive regulation of cell proliferation germ cell migration male gonad development post-embryonic development anterior/posterior pattern specification cell surface positive regulation of gene expression regulation of epithelial to mesenchymal transition positive regulation of epithelial to mesenchymal transition positive regulation of pathway-restricted SMAD protein phosphorylation protein deubiquitination peptidyl-serine phosphorylation peptidyl-threonine phosphorylation growth factor binding growth factor binding collagen fibril organization positive regulation of cell growth positive regulation of cell migration negative regulation of transforming growth factor beta receptor signaling pathway regulation of protein ubiquitination negative regulation of chondrocyte differentiation activin receptor signaling pathway activin receptor signaling pathway intracellular signal transduction wound healing endothelial cell activation extracellular structure organization intracellular membrane-bounded organelle receptor complex receptor complex regulation of protein binding endothelial cell migration membrane raft positive regulation of transcription, DNA-templated SMAD binding SMAD binding SMAD binding metal ion binding activin receptor complex activin binding thymus development neuron fate commitment embryonic cranial skeleton morphogenesis skeletal system morphogenesis mesenchymal cell differentiation artery morphogenesis cell motility transforming growth factor beta binding transforming growth factor beta binding transforming growth factor beta binding transforming growth factor beta binding positive regulation of cellular component movement positive regulation of filopodium assembly positive regulation of stress fiber assembly positive regulation of protein kinase B signaling parathyroid gland development roof of mouth development pharyngeal system development regulation of cardiac muscle cell proliferation cardiac epithelial to mesenchymal transition pathway-restricted SMAD protein phosphorylation positive regulation of SMAD protein signal transduction ventricular septum morphogenesis angiogenesis involved in coronary vascular morphogenesis coronary artery morphogenesis I-SMAD binding response to cholesterol cellular response to transforming growth factor beta stimulus positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation positive regulation of tight junction disassembly epicardium morphogenesis positive regulation of apoptotic signaling pathway negative regulation of extrinsic apoptotic signaling pathway |
| Ontology : EGO-EBI | activation of MAPKK activity skeletal system development in utero embryonic development kidney development blastocyst development epithelial to mesenchymal transition negative regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation lens development in camera-type eye ventricular trabecula myocardium morphogenesis ventricular compact myocardium morphogenesis proepicardium development protein kinase activity protein serine/threonine kinase activity transforming growth factor beta-activated receptor activity transforming growth factor beta-activated receptor activity transforming growth factor beta-activated receptor activity transforming growth factor beta-activated receptor activity transforming growth factor beta-activated receptor activity transforming growth factor beta receptor activity, type I transforming growth factor beta receptor activity, type I type II transforming growth factor beta receptor binding type II transforming growth factor beta receptor binding protein binding ATP binding nucleus endosome plasma membrane plasma membrane integral component of plasma membrane bicellular tight junction regulation of transcription, DNA-templated regulation of transcription, DNA-templated protein phosphorylation apoptotic process cell cycle arrest signal transduction transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor signaling pathway pattern specification process heart development positive regulation of cell proliferation germ cell migration male gonad development post-embryonic development anterior/posterior pattern specification cell surface positive regulation of gene expression regulation of epithelial to mesenchymal transition positive regulation of epithelial to mesenchymal transition positive regulation of pathway-restricted SMAD protein phosphorylation protein deubiquitination peptidyl-serine phosphorylation peptidyl-threonine phosphorylation growth factor binding growth factor binding collagen fibril organization positive regulation of cell growth positive regulation of cell migration negative regulation of transforming growth factor beta receptor signaling pathway regulation of protein ubiquitination negative regulation of chondrocyte differentiation activin receptor signaling pathway activin receptor signaling pathway intracellular signal transduction wound healing endothelial cell activation extracellular structure organization intracellular membrane-bounded organelle receptor complex receptor complex regulation of protein binding endothelial cell migration membrane raft positive regulation of transcription, DNA-templated SMAD binding SMAD binding SMAD binding metal ion binding activin receptor complex activin binding thymus development neuron fate commitment embryonic cranial skeleton morphogenesis skeletal system morphogenesis mesenchymal cell differentiation artery morphogenesis cell motility transforming growth factor beta binding transforming growth factor beta binding transforming growth factor beta binding transforming growth factor beta binding positive regulation of cellular component movement positive regulation of filopodium assembly positive regulation of stress fiber assembly positive regulation of protein kinase B signaling parathyroid gland development roof of mouth development pharyngeal system development regulation of cardiac muscle cell proliferation cardiac epithelial to mesenchymal transition pathway-restricted SMAD protein phosphorylation positive regulation of SMAD protein signal transduction ventricular septum morphogenesis angiogenesis involved in coronary vascular morphogenesis coronary artery morphogenesis I-SMAD binding response to cholesterol cellular response to transforming growth factor beta stimulus positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation positive regulation of tight junction disassembly epicardium morphogenesis positive regulation of apoptotic signaling pathway negative regulation of extrinsic apoptotic signaling pathway |
| Pathways : KEGG | MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway Endocytosis TGF-beta signaling pathway Osteoclast differentiation Hippo signaling pathway Adherens junction Chagas disease (American trypanosomiasis) Hepatitis B HTLV-I infection Pathways in cancer Colorectal cancer Pancreatic cancer Chronic myeloid leukemia |
| NDEx Network | TGFBR1 |
| Atlas of Cancer Signalling Network | TGFBR1 |
| Wikipedia pathways | TGFBR1 |
| Orthology - Evolution |
|---|
| OrthoDB | 7046 |
| GeneTree (enSembl) | ENSG00000106799 |
| Phylogenetic Trees/Animal Genes : TreeFam | TGFBR1 |
| HOGENOM | P36897 |
| Homologs : HomoloGene | TGFBR1 |
| Homology/Alignments : Family Browser (UCSC) | TGFBR1 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Quiver | TGFBR1 |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | TGFBR1 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | TGFBR1 |
| dbVar | TGFBR1 |
| ClinVar | TGFBR1 |
| 1000_Genomes | TGFBR1 |
| Exome Variant Server | TGFBR1 |
| ExAC (Exome Aggregation Consortium) | ENSG00000106799 |
| GNOMAD Browser | ENSG00000106799 |
| Varsome Browser | TGFBR1 |
| Genetic variants : HAPMAP | 7046 |
| Genomic Variants (DGV) | TGFBR1 [DGVbeta] |
| DECIPHER | TGFBR1 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | TGFBR1 |
| Mutations |
|---|
| ICGC Data Portal | TGFBR1 |
| TCGA Data Portal | TGFBR1 |
| Broad Tumor Portal | TGFBR1 |
| OASIS Portal | TGFBR1 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | TGFBR1 [overview] [genome browser] [tissue] [distribution] |
| Somatic Mutations in Cancer : COSMIC3D | TGFBR1 |
| Mutations and Diseases : HGMD | TGFBR1 |
| LOVD (Leiden Open Variation Database) | Whole genome datasets |
| LOVD (Leiden Open Variation Database) | LOVD 3.0 shared installation |
| LOVD (Leiden Open Variation Database) | LOVD - Leiden Open Variation Database |
| BioMuta | search TGFBR1 |
| DgiDB (Drug Gene Interaction Database) | TGFBR1 |
| DoCM (Curated mutations) | TGFBR1 (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | TGFBR1 (select a term) |
| intoGen | TGFBR1 |
| Cancer3D | TGFBR1(select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 132800 190181 609192 |
| Orphanet | 10877 10799 12138 |
| DisGeNET | TGFBR1 |
| Medgen | TGFBR1 |
| Genetic Testing Registry | TGFBR1
|
| NextProt | P36897 [Medical] |
| TSGene | 7046 |
| GENETests | TGFBR1 |
| Target Validation | TGFBR1 |
| Huge Navigator |
TGFBR1 [HugePedia] |
| snp3D : Map Gene to Disease | 7046 |
| BioCentury BCIQ | TGFBR1 |
| ClinGen | TGFBR1 (curated) |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 7046 |
| Chemical/Pharm GKB Gene | PA36485 |
| Clinical trial | TGFBR1 |
| Miscellaneous |
|---|
| canSAR (ICR) | TGFBR1 (select the gene name) |
| DataMed Index | TGFBR1 |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 477 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | TGFBR1 |
| EVEX | TGFBR1 |
| GoPubMed | TGFBR1 |
| iHOP | TGFBR1 |
