RCAN1
Description
The RCAN1 (regulator of calcineurin 1) is a protein-coding gene located on chromosome 21.
RCAN1, also known as DSCR1, is a protein encoded by the RCAN1 gene in humans. It is located at the centromeric border of the DSCR region and encodes an inhibitor of calcineurin/ NFAT (nuclear factor activated T cells) signaling. The gene spans 45 kb and contains 7 exons and 6 introns. Different cDNA analysis has shown that the first four exons are alternative and code for two isoforms of 197 amino acids, and one isoform codes for 171 amino acids, which differ in their N-terminal. The remaining 168 residues are common. There is also an alternative promoter region with about 900 bp between exon 3 and 4, suggesting that the fourth isoform might be transcribed from another promoter. The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways of genetic transcription, possibly affecting central nervous system development. Three transcript variants encoding three different isoforms have been found for this gene. In endothelial cells, VEGF stimulates RCAN1.4 expression which regulates gene expression, cell migration and tubular morphogenesis. DSCR1 consists of putative functional motifs and a calcineurin binding domain. DSCR1 contains two proline-rich SH3 binding domains, usually named proline-rich domains (PRDs), which define the protein family.
RCAN1 is also known as ADAPT78, CSP1, DSC1, DSCR1, MCIP1, RCN1.
