RUBCN Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | RUBCN |
| Official Name | rubicon autophagy regulator [Source:HGNC Symbol;Acc:HGNC:28991] |
| Ensembl ID | ENSG00000145016 |
| Bio databases IDs | |
| Aliases | rubicon autophagy regulator |
| Synonyms | 1700021K19Rik, 5330403K09, KIAA0226, mKIAA0226, RGD1305422, RUBICON, rubicon autophagy regulator, RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein, SCAR15 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RUBCN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- domain involved in Ras-like GTPase signaling
- coiled-coil domain
- phosphoinositide 3-kinase regulator
- protein binding
- Putative zinc-RING and/or ribbon
- RUN domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- systemic lupus erythematosus
- autosomal recessive spinocerebellar ataxia type 15
- proteinuria
- interstitial nephritis
- microgliosis
- glomerulonephritis
- spinocerebellar ataxia 15
- memory deficits
role in cell
- expression in
- function
- apoptosis
- survival
- accumulation in
- autophagy in
- accumulation
- maturation
- co-localization
- autophagy by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- cytosol
- nucleoplasm
- early endosomes
- late endosomes
- multivesicular bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RUBCN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of endocytosis
- autophagy
- negative regulation of autophagy
- multivesicular body sorting pathway
- phagocytosis
- immune system process
- negative regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- early endosome
- intracellular membrane-bounded organelle
- late endosome
- cytosol
- Golgi apparatus
- lysosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding