RCOR1: A Key Transcriptional Corepressor in Neuronal Development and Cancer
Comprehensive genomic and functional overview of the RCOR1 gene
Gene Information Card
| Symbol | RCOR1 |
|---|---|
| Full Name | REST corepressor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.31 |
| NCBI Gene ID | 23186 ncbi.nlm.nih.gov/gene/23186 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q9UKL0 |
| OMIM ID | 607675 |
| HGNC ID | 17445 |
| Aliases | COREST, KIAA0071, RCOR |
Description
RCOR1 (REST corepressor 1) encodes a protein that functions as a corepressor of REST (RE1-silencing transcription factor). It is a key component of the CoREST complex, which mediates transcriptional repression of neuronal genes in non-neuronal tissues. The protein recruits histone deacetylases (HDAC1/2) and histone demethylases (LSD1/KDM1A) to silence gene expression. RCOR1 is involved in neural development, stem cell maintenance, and is implicated in various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | RCOR1 overexpression correlates with poor prognosis; promotes epithelial-mesenchymal transition | PMID: 25609812 |
| Colorectal cancer | RCOR1 silencing via promoter methylation associated with tumor progression | PMID: 23593055 |
| Glioblastoma | RCOR1 loss enhances tumorigenicity by derepressing neuronal genes | PMID: 27374331 |
| Intellectual disability | De novo missense variants in RCOR1 linked to neurodevelopmental delay | ClinVar: RCV000626014 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 4.1 | Low |
| Lung | 6.7 | Low |
| Kidney | 7.2 | Low |
| Testis | 15.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | Embryonic kidney cells |
| HeLa | 22.1 | Cervical cancer cells |
| SH-SY5Y | 35.6 | Neuroblastoma cells |
| MCF7 | 14.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1075C>T (p.Arg359Trp) | Missense | Rare | Loss of function; reduced corepressor activity |
| c.1234_1235del (p.Lys412Glufs*3) | Frameshift | Rare | Loss of function; truncated protein |
| c.1567G>A (p.Gly523Arg) | Missense | Rare | Unknown; reported in neurodevelopmental disorder |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the ELM2/SANT domains impair corepressor activity, leading to derepression of REST target genes.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance stability or interaction with HDACs, but evidence is limited.
Dominant Negative (DN)
Missense mutations in the SANT domain may produce a protein that competes with wild-type RCOR1 for binding to REST, reducing overall repressive complex function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REST and CoREST complex in neuronal gene silencing
• HDACs class I pathway
• LSD1-mediated histone demethylation
Protein Summary
The RCOR1 protein (UniProt Q9UKL0) is 482 amino acids long and contains an ELM2 domain and two SANT domains. It serves as a scaffold for the assembly of the CoREST complex, recruiting HDAC1/2 and LSD1 to repress transcription. The protein is predominantly nuclear and is expressed in a wide range of tissues, with highest levels in brain and testis. Post-translational modifications include phosphorylation and ubiquitination, which regulate its stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RCOR1 Knockout HEK293 Cell Line | EDJ-KQ7875 | Human | 23186 | Details Get a Quote |
| RCOR1 Knockout HCT 116 Cell Line | EDJ-KQ33456 | Human | 23186 | Details Get a Quote |
| RCOR1 Knockout HeLa Cell Line | EDJ-KQ33457 | Human | 23186 | Details Get a Quote |
| RCOR1 Knockout A-549 Cell Line | EDJ-KQ64199 | Human | 23186 | Details Get a Quote |
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