IDSwiss AccGene NameAliasDescription
1827P53805DSCR1CSP1; DSC1; RCN1; MCIP1; ADAPT78Down syndrome critical region gene 1
[more aliases]
FunctionThe 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. Three transcript variants encoding three different isoforms have been found for this gene.

AssociationsTCM-GeneTCM-Gene-Disease

Gene OntologyGO:0019722 calcium-mediated signaling
GO:0005634 nucleus
GO:0007417 central nervous system development
GO:0007165 signal transduction
GO:0000166 nucleotide binding
GO:0008015 circulation
GO:0003700 transcription factor activity

Database cross references

PharmGKBPA27492

STITCHDSCR1

Integrated protein interaction and pathway information

Interacting Partners (HPRD)Experiment
PPP3CAin vitro;in vivo
UXTin vitro;in vivo;yeast 2-hybrid
MAPK3in vitro
MAP3K3in vivo
GSK3Bin vitro

Pathway (NetPath)PubMedRegulationExperiment
TGF-beta Receptor14726474,15571627 UpregulationMicroarray


© 2008 National Taiwan Univerisity, Taipei, Taiwan