Gene

RUBCN

Species
Homo sapiens
Symbol
RUBCN
Name
rubicon autophagy regulator
Synonyms
  • baron
  • beclin-1 associated RUN domain containing protein
Biotype
protein coding gene
Automated Description
Enables phosphatidylinositol 3-kinase inhibitor activity. Involved in negative regulation of autophagosome maturation; negative regulation of endocytosis; and negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in cytosol; endosome; and nucleoplasm. Implicated in autosomal recessive spinocerebellar ataxia 15.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45971
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
197.67M197.68M197.69M197.70M197.71M197.72M197.73M197.74M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions