TGFBR1

Summary: The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
Nametransforming growth factor beta receptor 1
OMIM IDMIM:190181
Ensembl IDEnsembl:ENSG00000106799
HGNC IDHGNC:HGNC:11772
PHARMGKB IDPA36485
Map Location9q22.33

GO terms in TGFBR1


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Term Type
Evidence Type
GO Term ID
GO Des.
CC IEA GO:0005768 endosome
CC IDA GO:0005886 plasma membrane
CC TAS GO:0005886 plasma membrane
CC IBA GO:0005887 integral component of plasma membrane
CC IDA GO:0005923 bicellular tight junction
CC IDA GO:0009986 cell surface
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Gene expression in normal tissue: TGFBR1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

undefined33DNA replication1Chromatin histone acetylation1Apoptosis regulation1Biosynthesis of secondary metabolites1Proteasome1

Pathways in TGFBR1


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Database
Pathway ID
Pathway Des.
wikipathways WP2795 Cardiac Hypertrophic Response
wikipathways WP2870 Extracellular vesicle-mediated signaling in recipient cells
wikipathways WP3646 Hepatitis C and Hepatocellular Carcinoma
wikipathways WP366 TGF-beta Signaling Pathway
wikipathways WP3668 Hypothesized Pathways in Pathogenesis of Cardiovascular Disease
wikipathways WP382 MAPK Signaling Pathway
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD23 Gossypol 3
iGMDRD268 Cerulenin 3
iGMDRD524 ISX-9 1
iGMDRD64 Parbendazole 3
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in TGFBR1

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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