Homo sapiens Gene: RCAN1
Summary
InnateDB Gene IDBG-2768.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RCAN1
Gene Name regulator of calcineurin 1
Synonyms ADAPT78; CSP1; DSC1; DSCR1; MCIP1; RCN1
Species Homo sapiens
Ensembl Gene ENSG00000159200
Encoded Proteins
regulator of calcineurin 1
regulator of calcineurin 1
regulator of calcineurin 1
regulator of calcineurin 1
regulator of calcineurin 1
regulator of calcineurin 1
regulator of calcineurin 1
regulator of calcineurin 1
regulator of calcineurin 1
regulator of calcineurin 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
RCAN1 (DSCR1) short isoform positively modulates IL-1R-mediated signalling pathways by regulating TOLLIP/IRAK1/TRAF6 complex formation.
Entrez Gene
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. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 21:34513142-34615142
Strand Reverse strand
Band q22.12
Transcripts
ENST00000381135 ENSP00000370527
ENST00000313806 ENSP00000320768
ENST00000381132 ENSP00000370524
ENST00000399272 ENSP00000382214
ENST00000443408 ENSP00000392438
ENST00000487434
ENST00000487990 ENSP00000419252
ENST00000489903
ENST00000481448 ENSP00000417926
ENST00000482533 ENSP00000419624
ENST00000492600 ENSP00000477155
ENST00000463276
ENST00000609325
ENST00000620920 ENSP00000477646
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 16 [view]
Protein-Protein 16 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0042802 identical protein binding
Biological Process
GO:0002931 response to ischemia
GO:0006355 regulation of transcription, DNA-templated
GO:0006979 response to oxidative stress
GO:0007165 signal transduction
GO:0007417 central nervous system development
GO:0007519 skeletal muscle tissue development
GO:0007614 short-term memory
GO:0008015 blood circulation
GO:0009612 response to mechanical stimulus
GO:0019722 calcium-mediated signaling
GO:0031987 locomotion involved in locomotory behavior
GO:0033173 calcineurin-NFAT signaling cascade
GO:0043627 response to estrogen
GO:0043666 regulation of phosphoprotein phosphatase activity
GO:0045087 innate immune response (InnateDB)
GO:0048741 skeletal muscle fiber development
GO:0051151 negative regulation of smooth muscle cell differentiation
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
Calcium signaling in the CD4+ TCR pathway
Notch-mediated HES/HEY network
Role of Calcineurin-dependent NFAT signaling in lymphocytes
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.282326 Hs.737849
RefSeq NM_001285389 NM_001285391 NM_001285392 NM_001285393 NM_004414 NM_203417 NM_203418 XM_005260930
HUGO
OMIM
CCDS CCDS13637 CCDS33551 CCDS42921 CCDS74788 CCDS74790
HPRD 04226
IMGT
EMBL
GenPept
RNA Seq Atlas