Identity
HGNC
LOCATION
9q22.33
LOCUSID
ALIAS
AAT5,ACVRLK4,ALK-5,ALK5,ESS1,LDS1,LDS1A,LDS2A,MSSE,SKR4,TBR-i,TBRI,TGFR-1,tbetaR-I
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 7046
MIM: 190181
HGNC: 11772
Ensembl: ENSG00000106799
Variants:
dbSNP: 7046
ClinVar: 7046
TCGA: ENSG00000106799
COSMIC: TGFBR1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA161907438 | Thoracic Aortic Aneurysms and Dissections (TAAD) | Disease | DataAnnotation | associated | |||
| PA166123310 | loeys-dietz syndrome | Disease | DataAnnotation | associated | |||
| PA24456 | ACTA2 | Gene | DataAnnotation | associated | |||
| PA28016 | FBN1 | Gene | DataAnnotation | associated | |||
| PA30526 | SMAD3 | Gene | DataAnnotation | associated | |||
| PA31367 | MYH11 | Gene | DataAnnotation | associated | |||
| PA31388 | MYLK | Gene | DataAnnotation | associated | |||
| PA36486 | TGFBR2 | Gene | DataAnnotation | associated | |||
| PA444880 | Marfan Syndrome | Disease | DataAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38328944 | 2024 | TGFβR1 inhibition drives hepatocellular carcinoma proliferation through induction of toll-like-receptor signalling. | 1 |
| 38522762 | 2024 | Blockade of endothelial adenosine receptor 2 A suppresses atherosclerosis in vivo through inhibiting CREB-ALK5-mediated endothelial to mesenchymal transition. | 0 |
| 38582012 | 2024 | Gut microbiota regulates the ALK5/NOX1 axis by altering glutamine metabolism to inhibit ferroptosis of intrahepatic cholangiocarcinoma cells. | 0 |
| 38730107 | 2024 | Polymorphism of Transforming Growth Factor TGFB and Its Receptors TGFBRI, TGFBRII, TGFBRIIII Genes in Western Siberia Patients with Open-Angle Glaucoma. | 0 |
| 38328944 | 2024 | TGFβR1 inhibition drives hepatocellular carcinoma proliferation through induction of toll-like-receptor signalling. | 1 |
| 38522762 | 2024 | Blockade of endothelial adenosine receptor 2 A suppresses atherosclerosis in vivo through inhibiting CREB-ALK5-mediated endothelial to mesenchymal transition. | 0 |
| 38582012 | 2024 | Gut microbiota regulates the ALK5/NOX1 axis by altering glutamine metabolism to inhibit ferroptosis of intrahepatic cholangiocarcinoma cells. | 0 |
| 38730107 | 2024 | Polymorphism of Transforming Growth Factor TGFB and Its Receptors TGFBRI, TGFBRII, TGFBRIIII Genes in Western Siberia Patients with Open-Angle Glaucoma. | 0 |
| 35643962 | 2023 | Transforming growth factor beta isoforms and TGF-βR1 and TGF-βR2 expression in systemic sclerosis patients. | 6 |
| 36566567 | 2023 | Shear-mediated ALK5 expression regulates endothelial activation. | 0 |
| 36584339 | 2023 | Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome. | 0 |
| 36599937 | 2023 | Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome. | 1 |
| 36791912 | 2023 | Crosstalk between protein kinase C α and transforming growth factor β signaling mediated by Runx2 in intestinal epithelial cells. | 1 |
| 36994542 | 2023 | LncRNA LITATS1 suppresses TGF-β-induced EMT and cancer cell plasticity by potentiating TβRI degradation. | 14 |
| 37327315 | 2023 | Functional Genetic Variants in TGFβ1 and TGFβR1 in miRNA-Binding Sites Predict Outcomes in Patients with HPV-positive Oropharyngeal Squamous Cell Carcinoma. | 3 |
Citation
Dessen P
TGFBR1 (transforming growth factor beta receptor 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/42540/tgfbr1
