Aliases for RUBCN Gene
- RUN And Cysteine Rich Domain Containing Beclin 1 Interacting Protein 2 3 5
- KIAA0226 2 3 4
- RUN Domain And Cysteine-Rich Domain Containing, Beclin 1-Interacting Protein 2 3
- Beclin-1 Associated RUN Domain Containing Protein 3 4
- RUBICON 3 4
- Baron 3 4
- Run Domain Beclin-1-Interacting And Cysteine-Rich Domain-Containing Protein 3
- Rundataxin 3
- SCAR15 3
External Ids for RUBCN Gene
Previous HGNC Symbols for RUBCN Gene
The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
GeneCards Summary for RUBCN Gene
RUBCN (RUN And Cysteine Rich Domain Containing Beclin 1 Interacting Protein) is a Protein Coding gene. Diseases associated with RUBCN include Spinocerebellar Ataxia, Autosomal Recessive 15 and Alacrima, Achalasia, And Mental Retardation Syndrome. Among its related pathways are Autophagy - animal and Apoptosis and Autophagy. An important paralog of this gene is RUBCNL.
UniProtKB/Swiss-Prot for RUBCN Gene
Inhibits PIK3C3 activity; under basal conditions negatively regulates PI3K complex II (PI3KC3-C2) function in autophagy. Negatively regulates endosome maturation and degradative endocytic trafficking and impairs autophagosome maturation process. Can sequester UVRAG from association with a class C Vps complex (possibly the HOPS complex) and negatively regulates Rab7 activation (PubMed:20974968, PubMed:21062745).
Involved in regulation of pathogen-specific host defense of activated macrophages. Following bacterial infection promotes NADH oxidase activity by association with CYBA thereby affecting TLR2 signaling and probably other TLR-NOX pathways. Stabilizes the CYBA:CYBB NADPH oxidase heterodimer, increases its association with TLR2 and its phagosome trafficking to induce antimicrobial burst of ROS and production of inflammatory cytokines (PubMed:22423966). Following fungal or viral infection (implicating CLEC7A (dectin-1)-mediated myeloid cell activation or DDX58/RIG-I-dependent sensing of RNA viruses) negatively regulates pro-inflammatory cytokine production by association with CARD9 and sequestering it from signaling complexes (PubMed:22423967).