RUBCN
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| RUN and cysteine rich domain containing beclin 1 interacting protein | MIM:613516 | Ensembl:ENSG00000145016 | HGNC:HGNC:28991 | PA134887849 | 3q29 |
GO terms in RUBCN
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0002376 | immune system process |
| BP | IEA | GO:0006909 | phagocytosis |
| BP | IEA | GO:0006914 | autophagy |
| BP | IMP | GO:0010507 | negative regulation of autophagy |
| BP | IDA | GO:0043553 | negative regulation of phosphatidylinositol 3-kinase activity |
| BP | IMP | GO:0045806 | negative regulation of endocytosis |
| BP | TAS | GO:0071985 | multivesicular body sorting pathway |
| BP | IMP | GO:1901097 | negative regulation of autophagosome maturation |
| BP | TAS | GO:1901097 | negative regulation of autophagosome maturation |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005764 | lysosome |
| CC | IDA | GO:0005769 | early endosome |
| CC | IDA | GO:0005770 | late endosome |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005829 | cytosol |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: RUBCN
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RUBCN
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04140 | Autophagy - animal - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RUBCN
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