RUBCN (RUN Domain and Cysteine-Rich Domain Containing, Beclin 1-Interacting Protein)
A key regulator of autophagy and endosomal trafficking, implicated in spinocerebellar ataxia and cancer.
Gene Information Card
| Symbol | RUBCN |
|---|---|
| Full Name | RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein |
| Gene Type | protein coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 9711 ncbi.nlm.nih.gov/gene/9711 |
| Ensembl ID | ENSG00000114544 |
| UniProt ID | Q9Y2T5 |
| OMIM ID | 609406 |
| HGNC ID | 28964 |
| Aliases | Rubicon, KIAA0226 |
Description
The RUBCN gene encodes Rubicon, a protein that negatively regulates autophagy by inhibiting autophagosome maturation and endosomal trafficking. It interacts with Beclin 1 and the class III phosphatidylinositol 3-kinase (PI3K) complex. Mutations in RUBCN are associated with autosomal recessive spinocerebellar ataxia-15 (SCAR15).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia, autosomal recessive 15 (SCAR15) | Loss-of-function mutations impair autophagy and endosomal trafficking, leading to neurodegeneration. | ClinVar, OMIM |
| Cancer (various types) | Overexpression of RUBCN promotes tumor growth by suppressing autophagy, while downregulation may enhance anti-tumor immunity. | COSMIC, PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Lung | 8.5 | Medium |
| Liver | 7.1 | Low |
| Kidney | 6.8 | Low |
| Testis | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.3 | Cervical cancer cell line |
| A549 | 9.8 | Lung carcinoma |
| HepG2 | 7.5 | Liver cancer |
| MCF7 | 6.2 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2215C>T (p.Arg739Ter) | Nonsense | Rare | Loss of function, associated with SCAR15 |
| c.1753C>T (p.Arg585Ter) | Nonsense | Rare | Loss of function, associated with SCAR15 |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of function, likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (nonsense, frameshift) lead to truncated Rubicon protein, impairing autophagy regulation and causing SCAR15.
Gain of Function (GOF)
Gain-of-function is not well documented; overexpression in cancer may act as a dominant effect but not a mutation.
Dominant Negative (DN)
No evidence for dominant-negative mutations; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • endosome |
| • protein binding | • phosphatidylinositol 3-kinase binding |
| • negative regulation of autophagy | • late endosome |
| • lysosome |
Pathways
• Autophagy
• Endosomal trafficking
• PI3K/AKT signaling
Protein Summary
Rubicon is a 972-amino acid protein containing RUN and cysteine-rich domains. It localizes to endosomes and lysosomes, where it inhibits autophagosome maturation by interacting with the Beclin 1-PI3K complex. It also regulates endosomal trafficking and immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RUBCN Knockout HEK293 Cell Line | EDJ-KQ6708 | Human | 9711 | Details Get a Quote |
| RUBCNL Knockout HEK293 Cell Line | EDJ-KQ9475 | Human | 80183 | Details Get a Quote |
| RUBCN Knockout HCT 116 Cell Line | EDJ-KQ31072 | Human | 9711 | Details Get a Quote |
| RUBCN Knockout HeLa Cell Line | EDJ-KQ31073 | Human | 9711 | Details Get a Quote |
| RUBCN Knockout A-549 Cell Line | EDJ-KQ29719 | Human | 9711 | Details Get a Quote |
| RUBCNL Knockout HeLa Cell Line | EDJ-KQ57306 | Human | 80183 | Details Get a Quote |
| RUBCNL Knockout A-549 Cell Line | EDJ-KQ65814 | Human | 80183 | Details Get a Quote |
| RUBCNL Knockout HCT 116 Cell Line | EDJ-KQ74237 | Human | 80183 | Details Get a Quote |
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