RUBCNL (Rubicon Like Autophagy Enhancer)
A key regulator of autophagy and endosomal trafficking
Gene Information Card
| Symbol | RUBCNL |
|---|---|
| Full Name | Rubicon like autophagy enhancer |
| Gene Type | protein-coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 143689 ncbi.nlm.nih.gov/gene/143689 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q9H0H5 |
| OMIM ID | 618935 |
| HGNC ID | 28964 |
| Aliases | KIAA0226L, Rubicon-like, RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein like |
Description
RUBCNL (Rubicon Like Autophagy Enhancer) encodes a protein that functions as a positive regulator of autophagy and endosomal trafficking. It interacts with Beclin 1 and the class III phosphatidylinositol 3-kinase (PI3K) complex to promote autophagosome formation and maturation. The gene is located on chromosome 13q14.11 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autophagy-related disorders | Dysregulation of autophagy due to RUBCNL mutations or altered expression | PMID: 31073040 |
| Cancer (e.g., breast, lung) | Altered RUBCNL expression may affect tumor cell survival via autophagy modulation | COSMIC database |
| Neurodegenerative diseases | Impaired autophagy linked to RUBCNL dysfunction in neuronal cells | PMID: 31582872 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Lung | 7.8 | Low |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.6 | High expression |
| HeLa | 14.2 | Medium expression |
| A549 | 9.5 | Low expression |
| MCF7 | 11.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% | Reduced autophagy activity |
| c.567delA (p.Lys189fs) | Frameshift | <0.01% | Loss of function |
| c.890G>A (p.Arg297Gln) | Missense | 0.02% | Altered protein interaction |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the RUN domain impair autophagy enhancement.
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
Missense mutations in the Beclin 1-binding region may interfere with wild-type RUBCNL function.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • endosomal transport |
| • protein binding | • phosphatidylinositol 3-kinase complex |
| • cytoplasm | • lysosome |
Pathways
• Autophagy (KEGG hsa04140)
• Endocytosis (KEGG hsa04144)
• PI3K/AKT signaling
Protein Summary
The RUBCNL protein (UniProt Q9H0H5) is 972 amino acids long and contains a RUN domain and a cysteine-rich domain. It localizes to endosomes and lysosomes, where it enhances autophagic flux by promoting the activity of the Beclin 1-PI3K complex. The protein is widely expressed, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RUBCNL Knockout HEK293 Cell Line | EDJ-KQ9475 | Human | 80183 | 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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