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The protein encoded by RNF135 contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions.
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In-depth analysis of population-differentiated regions indicated that the coding gene, RNF135, represented a trans-regulation hotspot via cis (zeige CISH Proteine)-regulation by the population-specific variants in the region of selective sweep.
findings demonstrate the biological effects of RNF135 in glioblastoma cell proliferation, migration and cell cycle, and its role in the progression of glioblastoma may be associated with the ERK (zeige EPHB2 Proteine) signal transduction pathway.
Data showed that the presence of the RNF135 K115 variant in the genotype of patients with autism was statistically significant.
Riplet-mediated K63-linked polyubiquitination released RIG-I (zeige DDX58 Proteine) RD autorepression, which allowed the access of positive factors to the RIG-I (zeige DDX58 Proteine) protein.
REUL is an E3 ubiquitin ligase (zeige MUL1 Proteine) of RIG-I (zeige DDX58 Proteine) and specifically stimulates RIG-I (zeige DDX58 Proteine)-mediated innate antiviral activity
These data identify RNF135 as causative of a new overgrowth syndrome and demonstrate that RNF135 haploinsufficiency contributes to the phenotype of NF1 (zeige NF1 Proteine) microdeletion cases.
identify an alternative factor, Riplet/RNF135, that promotes RIG-I (zeige DDX58 Proteine) activation independent of TRIM25 (zeige TRIM25 Proteine)
RNF135 mutations are not present in patients with Sotos syndrome-like features.
Riplet is essential for regulating RIG-I (zeige DDX58 Proteine)-mediated innate immune response against RNA virus infection in vivo.
The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported.
E3 ubiquitin-protein ligase RNF135
, RIG-I E3 ubiquitin ligase
, U 2-3-0