Reactome: A Curated Pathway Database
Results 1 to 10 of 107
Pathways (16) Reactions (45) Proteins (1) Others (45)
Protein: UniProt:P36897 TGFBR1 (Homo sapiens)
Last changed: 2015-03-12 14:00:50

Pathway: Disease (Homo sapiens)
Biological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular viewpoint, human disease pathways have three mechanistic causes: the inclusion of microbially-expressed proteins, altered functions of human proteins, or changed expression levels of otherwise functionally
Last changed: 2015-03-06 23:15:47

Pathway: Signal Transduction (Homo sapiens)
Signal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such as hormones and growth factors, or reacting to other types of stimuli, such as light. Stimulation of transmembrane receptors leads to their conformational change which propagates the signal to the intracellu
Last changed: 2015-03-06 23:15:47

Pathway: Diseases of signal transduction (Homo sapiens)
Signaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecular consequences of mutations affecting visual signal transduction and signaling by diverse growth factors are annotated
Last changed: 2015-01-15 22:40:17

Pathway: SMAD2/3 Phosphorylation Motif Mutants in Cancer (Homo sapiens)
The conserved phosphorylation motif Ser-Ser-X-Ser at the C-terminus of SMAD2 and SMAD3 is subject to disruptive mutations in cancer. The last two serine residues in this conserved motif, namely Ser465 and Ser467 in SMAD2 and Ser423 and Ser425 in SMAD3, are phosphorylated by the activated TGF beta receptor complex (Macias Silva et al. 1996, Nakao et al. 1997). Once phosphorylated, SMAD2 and SMAD3 form t
Last changed: 2015-02-09 16:16:33

Pathway: TGFBR1 KD Mutants in Cancer (Homo sapiens)
Mutations in the kinase domain (KD) of TGF-beta receptor 1 (TGFBR1) have been found in Ferguson-Smith tumor i.e. multiple self-healing squamous epithelioma - MSSE (Goudie et al. 2011), breast cancer (Chen et al. 1998), ovarian cancer (Chen et al. 2001) and head-and-neck cancer (Chen et al. 2001). KD mutations reported in MSSE are nonsense and frameshift mutations that cause premature termination of TGF
Last changed: 2015-02-09 16:16:33

Pathway: Loss of Function of SMAD2/3 in Cancer (Homo sapiens)
Loss-of-function of SMAD2 and SMAD3 in cancer occurs less frequently than the loss of SMAD4 function and was studied in most detail in colorectal cancer (Fleming et al. 2013). Similarly to SMAD4, coding sequence mutations in SMAD2 and SMAD3 in cancer cluster in the MH2 domain, involved in the formation of transcriptionally active heterotrimers with SMAD4. Another region of SMAD2 and SMAD3 t
Last changed: 2013-09-04 16:03:37

Pathway: Loss of Function of TGFBR2 in Cancer (Homo sapiens)
Loss-of-function of transforming growth factor-beta receptor II (TGFBR2) is most prevalent in colorectal cancer. Over 60% of colorectal cancers with microsatellite instability (MSI) harbor inactivating mutations in both alleles of TGFBR2, mostly 1 or 2 bp deletions in the 10 bp adenine repeat that codes for three lysine residues in the extracellular domain of TGFBR2. These small deletions result in a f
Last changed: 2013-09-04 16:03:37

Pathway: SMAD2/3 MH2 Domain Mutants in Cancer (Homo sapiens)
Mutations in the MH2 domain of SMAD2 and SMAD3 affect their ability to form heterotrimers with SMAD4, thereby impairing TGF-beta signaling (Fleming et al. 2013). The SMAD2 and SMAD3 MH2 domain residues most frequently targeted by missense mutations are those that are homologous to SMAD4 MH2 domain residues shown to be involved in the formation of SMAD heterotrimers. Asp300 of SMAD2 and Asp258 of
Last changed: 2015-02-09 16:16:33

Pathway: Signaling by TGF-beta Receptor Complex (Homo sapiens)
The TGF-beta/BMP pathway incorporates several signaling pathways that share most, but not all, components of a central signal transduction engine. The general signaling scheme is rather simple: upon binding of a ligand, an activated plasma membrane receptor complex is formed, which passes on the signal towards the nucleus through a phosphorylated receptor SMAD (R-SMAD). In the nucleus, the activated R-
Last changed: 2015-03-06 18:40:03

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