2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
ubiquitin protein ligase activityubiquitin-dependent protein catabolic processendoplasmic reticulumendoplasmic reticulum membraneinfectious meningitisazoospermiabiliary tract diseasekidney disease
Based on limited published evidence, RNF133 is an E3 ubiquitin-protein ligase localized to cytoplasm, endoplasmic reticulum, Golgi apparatus, and late endosomes. It participates in ubiquitin-dependent protein catabolic processes and plays a role in male fecundity through interaction with E2 ubiquitin-protein ligase UBE2J1 1. RNF133 expression is significantly reduced during spermatogenesis in GRTH-deficient mice, suggesting involvement in histone ubiquitination and spermatid development 2. A novel RNF133 variant was identified as a candidate risk gene for autism spectrum disorder 3.
1
RNF133 has E3 ubiquitin-protein ligase activity and interacts with UBE2J1 to play a role in male fecundity
PMID: 358318552
RNF133 expression is significantly reduced in GRTH-deficient mice; involved in ubiquitin-mediated proteolysis pathway relevant to spermatid development
PMID: 324780683
RNF133 identified as a novel candidate risk gene for autism spectrum disorder in genome sequencing study
PMID: 39519104β Limited data available β This gene has 3 indexed publications. Summary and analysis may be incomplete.
infectious meningitisOpen Targets
biliary tract diseaseOpen Targets
kidney diseaseOpen Targets
spermatogenic failure 72Open Targets
spermatogenic failure, X-linked, 5Open Targets
spermatogenic failure 18Open Targets
spermatogenic failure 27Open Targets
spermatogenic failure 46Open Targets
spermatogenic failure 19Open Targets
spermatogenic failure 43Open Targets
spermatogenic failure 45Open Targets
spermatogenic failure 49Open Targets
spermatogenic failure 82Open Targets
spermatogenic failure 65Open Targets
spermatogenic failure 83Open Targets
spermatogenic failure 84Open Targets
spermatogenic failure 93Open Targets
spermatogenic failure 56Open Targets
spermatogenic failure 94Open Targets
No pathogenic variants reported on ClinVar for this gene.