RNF114
Description
The RNF114 (ring finger protein 114) is a protein-coding gene located on chromosome 20.
E3 ubiquitin-protein ligase RNF114 is a protein that in humans is encoded by the RNF114 gene.
RNF114 is an E3 ubiquitin ligase that targets various substrates, including TNFAIP3, TRAF6, MAVS, and CDKN1A, for ubiquitination and degradation. It regulates multiple cellular processes, such as cell cycle progression, apoptosis, osteoclastogenesis, innate and adaptive immunity, and T-cell activation. RNF114 acts as a negative regulator of NF-κB signaling and dsRNA responses, promoting the ubiquitination and stabilization of TNFAIP3, a NF-κB inhibitor, and targeting MAVS for proteasomal degradation, respectively. RNF114 also inhibits cellular senescence by ubiquitinating and degrading CDKN1A, a CDK inhibitor, promoting G1-to-S phase transition. It may play a role in spermatogenesis.
RNF114 is also known as PSORS12, ZNF313.
Associated Diseases
- type 2 diabetes mellitus
- systemic lupus erythematosus
- macrothrombocytopenia, isolated, 2, autosomal dominant
- thrombocytopenia 4
- amyotrophic lateral sclerosis
- autosomal dominant macrothrombocytopenia
- platelet-type bleeding disorder 15
- female infertility due to oocyte meiotic arrest
- platelet-type bleeding disorder 10
- male infertility with teratozoospermia due to single gene mutation
- thrombocytopenia 2
- thrombocytopenia 7
- premature ovarian failure 19
