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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RB1CC1
RB1 inducible coiled-coil 1
Chromosome 8 · 8q11.23
NCBI Gene: 9821Ensembl: ENSG00000023287.14HGNC: HGNC:15574UniProt: Q8TDY2
184PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription FactorTumor Suppressor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolautophagosome assemblyprotein kinase bindingnegative regulation of cell population proliferationneurodegenerative diseaselysosomal storage diseasebreast adenocarcinomahereditary breast carcinoma
✦AI Summary

RB1CC1 (RB1 inducible coiled-coil 1) is a multifunctional scaffolding protein that plays a central role in macroautophagy and selective autophagy pathways. RB1CC1 directly interacts with ATG16L1 to regulate both early and late events of autophagosome formation 1, serving as a core component of the ULK1/Atg1 kinase complex 2. The protein is essential for xenophagy, including autophagic clearance of Salmonella-containing vacuoles and bacterial pathogens 3. RB1CC1 also regulates organelle-specific autophagy including mitophagy, reticulophagy, and ribophagy 4. Beyond autophagy, RB1CC1 functions as a DNA-binding transcription factor that potently induces RB1 expression and inhibits PTK2/FAK1 kinase signaling. Clinically, RB1CC1 represents a hub autophagy-related gene in type 2 diabetes mellitus; overexpression of RB1CC1 promotes pancreatic β-cell viability and insulin secretion 5. The protein is also involved in muscular differentiation, fetal hematopoiesis, and neuronal homeostasis. Post-translational modifications, particularly S-palmitoylation of ATG16L1 partners, modulate RB1CC1 function in autophagosome biogenesis 6. Through its multiple regulatory roles, RB1CC1 coordinates cellular quality control mechanisms essential for metabolic homeostasis and host defense.

Sources cited
1
RB1CC1 regulates early and late events of autophagosome formation through direct interaction with ATG16L1
PMID: 23392225
2
RB1CC1 is a core component of the ULK1 complex and participates in acetylation-regulated autophagy initiation
PMID: 35435793
3
V-ATPase-ATG16L1 axis mediated by RB1CC1 is essential for xenophagic recognition and autophagic clearance of intracellular pathogens like Salmonella
PMID: 31327526
4
RB1CC1 regulates organelle-specific autophagy including mitophagy, reticulophagy, and ribophagy for quality control
PMID: 32048886
5
RB1CC1 is a hub autophagy-related gene in type 2 diabetes; overexpression promotes β-cell viability and insulin secretion
PMID: 37223013
6
Post-translational modifications like S-palmitoylation modulate RB1CC1 function in autophagosome formation through ATG16L1 interactions
PMID: 39087410
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.55Moderate
lysosomal storage diseaseOpen Targets
0.37Weak
breast adenocarcinomaOpen Targets
0.33Weak
Hereditary breast cancerOpen Targets
0.27Weak
hereditary breast carcinomaOpen Targets
0.27Weak
hematologic diseaseOpen Targets
0.25Weak
preeclampsiaOpen Targets
0.19Weak
schizophreniaOpen Targets
0.13Weak
neoplasmOpen Targets
0.11Weak
breast cancerOpen Targets
0.09Suggestive
Tietze syndromeOpen Targets
0.09Suggestive
infectionOpen Targets
0.07Suggestive
colitisOpen Targets
0.07Suggestive
glioblastomaOpen Targets
0.06Suggestive
left ventricular noncompactionOpen Targets
0.06Suggestive
hypertrophic cardiomyopathyOpen Targets
0.05Suggestive
Hepatic fibrosisOpen Targets
0.05Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.05Suggestive
acute myeloid leukemiaOpen Targets
0.05Suggestive
glycogen storage disease due to glycogen branching enzyme deficiencyOpen Targets
0.04Suggestive
Pathogenic Variants3
NM_014781.5(RB1CC1):c.1702C>T (p.Arg568Ter)Likely pathogenic
Familial cancer of breast
★☆☆☆2022→ Residue 568
NC_000008.11:g.52623770_52685461delPathogenic
Breast adenocarcinoma
☆☆☆☆2002
nsv1067861Pathogenic
Breast adenocarcinoma
☆☆☆☆2002
View on ClinVar ↗
Related Genes
BECN1Protein interaction100%ULK2Protein interaction100%ATG14Protein interaction100%NRBF2Protein interaction100%CALCOCO2Protein interaction100%PTK2Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
71%
Brain
59%
Ovary
29%
Lung
26%
Liver
23%
Gene Interaction Network
Click a node to explore
RB1CC1BECN1ULK2ATG14NRBF2CALCOCO2PTK2
PROTEIN STRUCTURE
Preparing viewer…
PDB7D0E · 1.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.29Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.22 [0.17–0.29]
RankingsWhere RB1CC1 stands among ~20K protein-coding genes
  • #2,354of 20,598
    Most Researched184 · top quartile
  • #3,943of 5,498
    Most Pathogenic Variants3
  • #1,083of 17,882
    Most Constrained (LOEUF)0.29 · top 10%
Genes detectedRB1CC1
Sources retrieved25 papers
Response time—
📄 Sources
25â–¼
1
Acetylation in the regulation of autophagy.
PMID: 35435793
Autophagy · 2023
1.00
2
Autophagy in the physiological endometrium and cancer.
PMID: 32401642
Autophagy · 2021
0.90
3
Multifaceted roles of TAX1BP1 in autophagy.
PMID: 35470757
Autophagy · 2023
0.80
4
Reticulophagy and viral infection.
PMID: 39394962
Autophagy · 2025
0.70
5
Emerging roles of ATG9/ATG9A in autophagy: implications for cell and neurobiology.
PMID: 39099167
Autophagy · 2024
0.68