RFFL
Description
The RFFL (ring finger and FYVE like domain containing E3 ubiquitin protein ligase) is a protein-coding gene located on chromosome 17.
RFFL is a ubiquitin ligase enzyme encoded by the RFFL gene in humans. It is also known as CARP2/FRING/CARP-2/RNF189;/RNF34L/RIFIFYLIN and is associated with endosomes. RFFL is known to affect cardiac repolarization, CFTR ubiquitination, and mitochondrial clearance by affecting Parkin/PRKN recruitment.
RFFL is an E3 ubiquitin ligase that regulates several cellular processes by targeting proteins for degradation through the ubiquitin-proteasome system. It promotes the degradation of PRR5L, thereby indirectly regulating cell migration through the mTORC2 complex. RFFL also ubiquitinates caspases CASP8 and CASP10, leading to their degradation and inhibiting cell death. Additionally, it negatively regulates the tumor necrosis factor signaling pathway by targeting RIPK1 for degradation. RFFL directly ubiquitinates and degrades p53/TP53, and may also indirectly regulate p53/TP53 by degrading SFN. RFFL may also play a role in endocytic recycling.
RFFL is also known as CARP-2, CARP2, FRING, RIFIFYLIN, RNF189, RNF34L.
Associated Diseases
- idiopathic hypereosinophilic syndrome
- hemoglobin H disease
- dominant beta-thalassemia
- glycoprotein storage disease
- hemoglobin C-beta-thalassemia syndrome
- combined immunodeficiency due to OX40 deficiency
- neuronal ceroid lipofuscinosis 1
- erythroleukemia, familial, susceptibility to
- hereditary neutrophilia
