TGFBR1 (Transforming Growth Factor Beta Receptor 1)
Key regulator of TGF-β signaling; implicated in cancer, fibrosis, and vascular disorders
Gene Information Card
| Symbol | TGFBR1 |
|---|---|
| Full Name | transforming growth factor beta receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q22.33 |
| NCBI Gene ID | 7046 ncbi.nlm.nih.gov/gene/7046 |
| Ensembl ID | ENSG00000106799 |
| UniProt ID | P36897 |
| OMIM ID | 190181 |
| HGNC ID | 11772 |
| Aliases | ALK5, ACVRLK4, LDS1, MSSE, SKR4, TGFR-1 |
Description
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Loeys-Dietz syndrome type 1 | Loss-of-function or dominant-negative mutations impair TGF-β signaling, leading to aortic aneurysm and skeletal abnormalities. | OMIM #609192; ClinVar |
| Hereditary hemorrhagic telangiectasia type 2 | Missense mutations disrupt receptor function, causing vascular dysplasia. | OMIM #600376; ClinVar |
| Colorectal cancer | Somatic mutations (e.g., p.Asp400Gly) reduce TGF-β growth inhibition, promoting tumor progression. | COSMIC; PMID: 15122512 |
| Pancreatic cancer | Inactivating mutations and loss of heterozygosity contribute to uncontrolled cell growth. | COSMIC; PMID: 22949634 |
| Non-small cell lung cancer | Altered TGFBR1 expression and mutations correlate with poor prognosis. | COSMIC; PMID: 18632636 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 8.2 | Medium |
| Lung | 7.5 | Medium |
| Liver | 6.1 | Medium |
| Kidney | 5.8 | Low |
| Brain | 4.3 | Low |
| Colon | 9.0 | Medium |
| Breast | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | High expression in embryonic kidney cells |
| HeLa | 8.9 | Cervical adenocarcinoma line |
| A549 | 7.2 | Lung carcinoma line |
| MCF7 | 5.6 | Breast cancer line |
| HepG2 | 6.8 | Hepatocellular carcinoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Asp400Gly | Missense | 0.2% in COSMIC | Reduces kinase activity; associated with colorectal cancer |
| p.Arg487Gln | Missense | 0.1% in COSMIC | Impaired SMAD2/3 phosphorylation; Loeys-Dietz syndrome |
| p.Leu101Pro | Missense | <0.1% in COSMIC | Dominant-negative effect; hereditary hemorrhagic telangiectasia |
| p.Thr204Ile | Missense | 0.05% in COSMIC | Decreased receptor stability; pancreatic cancer |
| c.1459C>T (p.Arg487*) | Nonsense | 0.03% in COSMIC | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that reduce or abolish kinase activity, impairing TGF-β signaling (e.g., p.Asp400Gly, p.Arg487*).
Gain of Function (GOF)
Rare; some missense variants may enhance signaling in certain cancers, but not well documented.
Dominant Negative (DN)
Mutations (e.g., p.Leu101Pro) that produce a defective receptor interfering with wild-type function, common in Loeys-Dietz syndrome.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004672 (protein kinase activity) | • GO:0005024 (transforming growth factor beta receptor activity) |
| • GO:0007179 (transforming growth factor beta receptor signaling pathway) | • GO:0016301 (kinase activity) |
| • GO:0046332 (SMAD binding) | • GO:0005886 (plasma membrane) |
Pathways
• TGFBR1 encodes a serine/threonine kinase receptor that forms a heteromeric complex with TGFBR2 upon ligand binding
• initiating SMAD-dependent and SMAD-independent TGF-β signaling. This pathway regulates cell proliferation
• differentiation
• migration
• and extracellular matrix production. Mutations in TGFBR1 are associated with Loeys-Dietz syndrome
• hereditary hemorrhagic telangiectasia
• and multiple cancers.
• TGF-beta signaling pathway (KEGG hsa04350)
• Signaling by TGF-beta family members (Reactome R-HSA-170834)
• SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription (Reactome R-HSA-2173793)
• TGFBR1 (ALK5) is a 503-amino acid transmembrane serine/threonine kinase receptor. Upon TGF-β binding to TGFBR2
• TGFBR1 is recruited and phosphorylated
• activating SMAD2/3 transcription factors. It also engages non-SMAD pathways (MAPK
• PI3K). The protein is essential for embryonic development
• immune regulation
• and tissue homeostasis. Dysregulation contributes to fibrotic diseases
• vascular disorders
• and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TGFBR1 Knockout HEK293 Cell Line | EDJ-KQ762 | Human | 7046 | Details Get a Quote |
| TGFBR1 Knockout HeLa Cell Line | EDJ-KQ18270 | Human | 7046 | Details Get a Quote |
| TGFBR1 Knockout A-549 Cell Line | EDJ-KQ19440 | Human | 7046 | Details Get a Quote |
| TGFBR1 Knockout HCT 116 Cell Line | EDJ-KQ19441 | Human | 7046 | Details Get a Quote |
| ACVR1B & TGFBR1 Knockout HEK293 Cell Line | EDC08097 | Human | 91 & 7046 | Details Get a Quote |
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