MLKL; ring finger and WD repeat domain 3; RING finger protein 201; RNF201;
Categories
Primary Antibodies
Clonality
polyclonal
Description
E3 ubiquitin-protein ligase that mediates the ubiquitination of p53/TP53 in the late response to DNA damage, and acts as a positive regulator of p53/TP53 stability, thereby regulating the G1/S DNA damage checkpoint. May act by catalyzing the formation of short polyubiquitin chains on p53/TP53 that are not targeted to the proteasome. In response to ionizing radiation, interacts with MDM2 and enhances p53/TP53 ubiquitination, possibly by restricting MDM2 from extending polyubiquitin chains on ubiquitinated p53/TP53. Plays a role in RPA-mediated DNA damage signaling and repair.The MGC Project Team, Genome Res. 14:2121-2127(2004).Ota T., Nat. Genet. 36:40-45(2004).Matsuoka S., Science 316:1160-1166(2007).
Host
Rabbit
Immunogen
Synthesized peptide derived from internal of Human RFWD3.
Involvement In Disease
Fanconi anemia, complementation group W (FANCW): A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair (PubMed:28575657). The disease is caused by mutations affecting the gene represented in this entry.
Raised In
Rabbit
Reactivity
Human
Regulatory
RUO
Relevance
E3 ubiquitin-protein ligase that mediates the ubiquitination of p53/TP53 in the late response to DNA damage, and acts as a positive regulator of p53/TP53 stability, thereby regulating the G1/S DNA damage checkpoint. May act by catalyzing the formation of short polyubiquitin chains on p53/TP53 that are not targeted to the proteasome. In response to ionizing radiation, interacts with MDM2 and enhances p53/TP53 ubiquitination, possibly by restricting MDM2 from extending polyubiquitin chains on ubiquitinated p53/TP53. Plays a role in RPA-mediated DNA damage signaling and repair.
The MGC Project Team, Genome Res. 14:2121-2127(2004). Ota T., Nat. Genet. 36:40-45(2004). Matsuoka S., Science 316:1160-1166(2007).
Species
Homo Sapiens (Human)
Specificity
The antibody detects endogenous levels of total RFWD3 protein.