RCAN1 Gene Summary [Human]
The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
Details
| Type | Processed Transcript |
| Official Symbol | RCAN1 |
| Official Name | regulator of calcineurin 1 [Source:HGNC Symbol;Acc:HGNC:3040] |
| Ensembl ID | ENSG00000159200 |
| Bio databases IDs | |
| Aliases | regulator of calcineurin 1 |
| Synonyms | ADAPT78, Calcipressin 1, CALP1L, CSP1, DSC1, DSCR1, MCIP1, RCN1, regulator of calcineurin 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RCAN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SP repeat domain
- protein phosphatase inhibitor activity
- RNA recognition motif (RRM) superfamily
- protein phosphatase 2B binding
- PxIxxT motif
- protein binding
- identical protein binding
- Calcipressin
- PxIxIT motif
Pathways
Biological processes and signaling networks where the RCAN1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- rheumatoid arthritis
- organismal death
- breast carcinoma
- dilated cardiomyopathy
- lung adenocarcinoma formation
- hyperactive behavior
- restenosis
- X-linked hypophosphatemic rickets
- periventricular nodular heterotopia
role in cell
- expression in
- phosphorylation in
- degradation in
- differentiation
- neurotoxicity
- activation in
- function
- production in
- apoptosis
- binding in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- axon-like process
- Cytoplasm
- cytosol
- secretory granules
- presynaptic terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RCAN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- calcineurin-NFAT signaling cascade
- response to oxidative stress
- locomotion involved in locomotory behavior
- short-term memory
- response to ischemia
- skeletal muscle fiber development
- negative regulation of calcineurin-NFAT signaling cascade
- calcium-mediated signaling
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- nucleic acid binding
- protein binding
- calcium-dependent protein serine/threonine phosphatase regulator activity