RCAN1: Regulator of Calcineurin 1
A key modulator of calcineurin signaling in development, neurodegeneration, and cancer
Gene Information Card
| Symbol | RCAN1 |
|---|---|
| Full Name | Regulator of Calcineurin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.12 |
| NCBI Gene ID | 1827 ncbi.nlm.nih.gov/gene/1827 |
| Ensembl ID | ENSG00000159200 |
| UniProt ID | P53805 |
| OMIM ID | 602917 |
| HGNC ID | 3040 |
| Aliases | DSCR1, ADAPT78, CSP1, MCIP1, RCN1 |
Description
RCAN1 (Regulator of Calcineurin 1) encodes a protein that binds to the catalytic subunit of calcineurin and inhibits its phosphatase activity. It plays a critical role in calcium-dependent signaling, neuronal development, cardiac hypertrophy, and angiogenesis. Overexpression due to trisomy 21 is implicated in Down syndrome phenotypes and Alzheimer disease pathology. RCAN1 also has context-dependent roles in cancer, acting as both a tumor suppressor and oncogene.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Down Syndrome | Overexpression of RCAN1 (located on chromosome 21) inhibits calcineurin-NFAT signaling, contributing to developmental abnormalities and increased risk of Alzheimer disease. | PMID: 11500318, 15689499 |
| Alzheimer Disease | RCAN1 upregulation promotes tau hyperphosphorylation and amyloid-beta accumulation through calcineurin inhibition and GSK3β activation. | PMID: 17686974, 21734254 |
| Cardiac Hypertrophy | RCAN1 suppresses calcineurin-NFAT signaling, protecting against pathological cardiac hypertrophy in mouse models. | PMID: 14679187 |
| Colorectal Cancer | RCAN1 expression is altered; loss of RCAN1 promotes tumor growth via NFAT activation and increased VEGF expression. | PMID: 19137019 |
| Breast Cancer | RCAN1 overexpression correlates with poor prognosis; modulates calcineurin-dependent cell migration and invasion. | PMID: 25944712 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Skeletal Muscle | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 2.1 | Not detected |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 9.7 | Medium expression |
| SH-SY5Y | 18.4 | High expression (neuronal) |
| MCF7 | 7.1 | Medium expression |
| HCT116 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.458C>T (p.Pro153Leu) | Missense | <0.01% | Unknown significance; reported in ClinVar |
| c.622G>A (p.Gly208Arg) | Missense | <0.01% | Unknown significance; reported in ClinVar |
| c.715C>T (p.Arg239Trp) | Missense | <0.01% | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., start codon loss) reduce calcineurin inhibition, leading to increased NFAT activity and potential tumor promotion.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; overexpression (e.g., in Down syndrome) is the primary mechanism of altered function.
Dominant Negative (DN)
No dominant-negative mutations have been reported for RCAN1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Calcineurin-NFAT signaling pathway
• VEGF signaling pathway
• Alzheimer disease – presenilin pathway
• Cardiac hypertrophy signaling (NFAT)
Protein Summary
The RCAN1 protein (also known as DSCR1 or MCIP1) is a 252-amino-acid endogenous inhibitor of calcineurin (PPP3CA). It contains a conserved FLISPP motif critical for binding to calcineurin. RCAN1 exists in multiple isoforms due to alternative splicing. It regulates NFAT nuclear translocation, thereby controlling gene expression in immune response, muscle development, and angiogenesis. In the brain, RCAN1 modulates tau phosphorylation and amyloid-beta toxicity. Its expression is induced by calcium influx and oxidative stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RCAN1 Knockout HEK293 Cell Line | EDJ-KQ3737 | Human | 1827 | Details Get a Quote |
| RCAN1 Knockout A-549 Cell Line | EDJ-KQ27051 | Human | 1827 | Details Get a Quote |
| RCAN1 Knockout HCT 116 Cell Line | EDJ-KQ27053 | Human | 1827 | Details Get a Quote |
| RCAN1 Knockout HeLa Cell Line | EDJ-KQ27054 | Human | 1827 | Details Get a Quote |
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