Basic Information

Symbol
RCAN1
RNA class
mRNA
Alias
Regulator Of Calcineurin 1 DSCR1 Myocyte-Enriched Calcineurin-Interacting Protein 1 Down Syndrome Critical Region Gene 1 Calcipressin-1 ADAPT78 MCIP1 CSP1 DSC1 Modulatory Calcineurin-Interacting Protein 1 Down Syndrome Critical Region Protein 1 Calcium And Oxidant-Inducible MRNA Down Syndrome Candidate Region 1 Near DSCR Proline-Rich Protein Adapt78 RCN1
Location (GRCh38)
21:34513142-34615113
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis Tissue/body fluid identification
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_004414.7
Sequence length
2503.0 nt
GC content
0.4794

Transcripts

ID Sequence Length GC content
NM_001285389.2 NCBI
GAACUAUAGUUGAAGGCUGCUGCCAAUACAACACCACUGUGAAACAGAA… 2210 nt 0.4276
NM_001285391.2 NCBI
AGAAACUUGCCCGUGCUCAAGAGAGGUGGGGAAAAAGAGUGAGAGGCGG… 2533 nt 0.4501
NM_001285392.2 NCBI
AGAAACUUGCCCGUGCUCAAGAGAGGUGGGGAAAAAGAGUGAGAGGCGG… 2327 nt 0.4379
NM_001285393.2 NCBI
AUUUUAGAGAGUUAAAAAGUAACAGACUGAGAUAAAAGCGAUCGUGGAA… 2264 nt 0.4192
NM_001331016.2 NCBI
AGCCUCUUGGAAAGGAAUCUCACUAGGGGCUUGACUGCGUGGGUCUGUA… 922 nt 0.5239
NM_004414.7 NCBI
AACGGCGGAGCCGCCGGCCGGGCGCGGACCGGAGCGCGUGAGGCUCCGG… 2503 nt 0.4794
NM_203417.2 NCBI
CCCCCUGCGCUCUCGCCAUCGCCCCGCAUUUACUCGCUGGAGGAGGGGG… 2322 nt 0.4367
NM_203418.3 NCBI
AGCCUCUUGGAAAGGAAUCUCACUAGGGGCUUGACUGCGUGGGUCUGUA… 2309 nt 0.4301
Summary

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]

Forensic Context

A study in mice and humans identified several novel disease genes for sepsis-induced myocardial dysfunction, with the RCAN1 being previously confirmed to regulate this condition as mentioned in the introductory discussion [Yao et al. DOI:10.1016/j.ygeno.2024.110911]. A study in humans demonstrated that the RCAN1 was evaluated as a candidate mRNA marker for skin identification in forensic samples [Visser et al. DOI:10.1007/s00414-010-0545-2]. The investigation, which tested skin and various body fluids using quantitative real-time PCR, found that the RCAN1 showed non-specific amplification among the tested samples and was therefore not selected as a suitable marker for distinguishing skin from other forensically relevant tissues.