RB1CC1
RB1 Inducible Coiled-Coil 1
Gene Information Card
| Symbol | RB1CC1 |
|---|---|
| Full Name | RB1 Inducible Coiled-Coil 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q11.23 |
| NCBI Gene ID | 9821 ncbi.nlm.nih.gov/gene/9821 |
| Ensembl ID | ENSG00000023287 |
| UniProt ID | Q8TDY2 |
| OMIM ID | 606837 |
| HGNC ID | 15574 |
| Aliases | FIP200, KIAA0203, PPP1R131 |
Description
RB1CC1 (RB1 Inducible Coiled-Coil 1) encodes a protein that functions as a scaffold in the autophagy pathway and as a transcriptional co-regulator. It is a core component of the ULK1/2 complex, essential for autophagosome formation. The gene is also implicated in cell growth regulation and tumor suppression through interaction with RB1 and other signaling molecules.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered autophagy and RB1 pathway signaling; RB1CC1 loss promotes tumorigenesis | COSMIC; ClinVar |
| Gastric cancer | Reduced expression correlates with poor prognosis; potential tumor suppressor | NCBI Gene; PubMed |
| Hepatocellular carcinoma | RB1CC1 downregulation linked to autophagy defects and cancer progression | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 8.9 | Medium |
| Brain | 6.3 | Low |
| Lung | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 12.3 | Moderate expression |
| MCF7 | 9.8 | Moderate expression |
| A549 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; predicted truncation |
| c.567_568del (p.Glu190fs) | Frameshift | <0.1% | Loss of function; predicted protein truncation |
| c.2345A>G (p.Asn782Ser) | Missense | 0.2% | Unknown significance; rare variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, disrupting autophagy complex formation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • protein kinase binding |
| • protein homodimerization activity | • cytoplasm |
| • ULK1/2 complex |
Pathways
• Autophagy (hsa04140)
• mTOR signaling pathway (hsa04150)
• Regulation of autophagy (hsa04140)
Protein Summary
The RB1CC1 protein (also known as FIP200) is a 1594-amino acid coiled-coil scaffold that interacts with ULK1/2, ATG13, and ATG101 to form the autophagy initiation complex. It also binds RB1 and regulates transcription, linking cell cycle control with autophagy. The protein is ubiquitously expressed and localizes to the cytoplasm.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RB1CC1 Knockout HEK293 Cell Line | EDJ-KQ2937 | Human | 9821 | Details Get a Quote |
| RB1CC1 Knockout A-549 Cell Line | EDJ-KQ24053 | Human | 9821 | Details Get a Quote |
| RB1CC1 Knockout HCT 116 Cell Line | EDC90261 | Human | 9821 | Details Get a Quote |
| RB1CC1 Knockout HeLa Cell Line | EDJ-KQ18231 | Human | 9821 | Details Get a Quote |
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