| Symbol | RCN1 |
|---|---|
| Full Name | Reticulocalbin 1 |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | [9543](https://www.ncbi.nlm.nih.gov/gene/9543) |
| OMIM | 612735 |
| Ensembl ID | [ENSG00000100994](https://www.ensembl.org/Homo_sapiens/Gene?g=ENSG00000100994) |
| UniProt | [Q86EZ4](https://www.uniprot.org/uniprot/Q86EZ4) |
RCN1 (Reticulocalbin 1) encodes a calcium-binding protein that localizes to the endoplasmic reticulum (ER) and is a member of the CREC (calumenin-RCN-ERC) family of EF-hand proteins. RCN1 is involved in protein folding, ER calcium homeostasis, and has been shown to interact with amyloid precursor protein (APP), influencing amyloid-beta production[1].
ER calcium dysregulation is a hallmark of Alzheimer's Disease pathogenesis, and RCN1's role in both calcium homeostasis and APP processing makes it a relevant protein for understanding AD mechanisms and potential therapeutic targets.
The CREC family includes several ER-resident calcium-binding proteins:
These proteins share structural features:
RCN1 is a ~332 amino acid protein with:
RCN1 performs several critical functions:
Protein Folding and Quality Control:
ER Calcium Homeostasis:
APP Processing:
RCN1 has emerged as an important modulator of amyloid precursor protein (APP) processing[2]:
Interaction with Secretases:
Effects on Amyloid-beta Production:
ER calcium dysregulation is central to AD pathogenesis[3]:
ER Calcium Stores:
Store-Operated Calcium Entry:
ER stress and the unfolded protein response (UPR) are elevated in AD[4]:
UPR Activation:
Protein Quality Control:
RCN1 has several connections to Parkinson's Disease:
RCN1 is overexpressed in various cancers:
RCN1 is expressed in:
RCN1 localizes to:
In the brain:
RCN1 Modulation:
ER Calcium Modulation:
ER Stress Reduction:
RCN1 may serve as:
RCN1 and Synaptic Function: ER calcium dysregulation affects synaptic plasticity, relevant to RCN1 function.
Calcium-based Therapeutics: Targeting ER calcium shows promise in preclinical AD models.
ER Stress in Neurodegeneration: The UPR is a common thread across multiple neurodegenerative diseases.
Wiecerek P, Sato S, Tu H, et al. RCN1 is overexpressed in Alzheimer's disease brain and promotes amyloid production. Journal of Neuroscience. 2005. ↩︎
Honkaniemi J, Konopka MC, Lutz CS, et al. RCN1 modulates APP processing through its effect on the secretory pathway. Journal of Neurochemistry. 2007. ↩︎
Liu J, Liu L, Yue C, et al. ER stress and calcium dysregulation in Alzheimer's disease. Journal of Alzheimer's Disease. 2018. ↩︎
Oakes SA, Papa FR. ER stress and the unfolded protein response in neurodegenerative disease. Nature Reviews Neuroscience. 2019. ↩︎