• Gene id: 1827

Gene Summary

• Gene Symbol: RCAN1   Gene   UCSC   Ensembl
• Aliases: ADAPT78, CSP1, DSC1, DSCR1, MCIP1, RCN1
• Gene name: regulator of calcineurin 1
• Alternate names: calcipressin-1, Down syndrome candidate region 1, Down syndrome critical region gene 1, calcium and oxidant-inducible mRNA, modulatory calcineurin-interacting protein 1, myocyte-enriched calcineurin-interacting protein 1, near DSCR proline-rich protein,
• Gene location: 21q22.12 (34615122: 34516441)     Exons: 9     NC_000021.9
• Gene summary(Entrez): 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 phenotyp

Protein Summary

• Protein general information: P53805  
  • Name: Calcipressin 1 (Adapt78) (Down syndrome critical region protein 1) (Myocyte enriched calcineurin interacting protein 1) (MCIP1) (Regulator of calcineurin 1)
  • Length: 252  
  • Mass: 28079
  • Tissue specificity: Highly expressed heart, brain and skeletal muscle. Also expressed in all other tissues.
• Sequence:

  MEDGVAGPQLGAAAEAAEAAEARARPGVTLRPFAPLSGAAEADEGGGDWSFIDCEMEEVDLQDLPSATIACHLDP
  RVFVDGLCRAKFESLFRTYDKDITFQYFKSFKRVRINFSNPFSAADARLQLHKTEFLGKEMKLYFAQTLHIGSSH
  LAPPNPDKQFLISPPASPPVGWKQVEDATPVINYDLLYAISKLGPGEKYELHAATDTTPSVVVHVCESDQEKEEE
  EEMERMRRPKPKIIQTRRPEYTPIHLS

• Structural information:
  • Interpro: IPR006931  IPR012677  IPR035979  IPR031271  IPR034906  
  • CDD: cd12708
  • STRING: ENSP00000370527
• Other Databases: GeneCards:  RCAN1  Malacards:  RCAN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0008597	calcium-dependent protein serine/threonine phosphatase regulator activity	IBA	molecular function
GO:0070884	regulation of calcineurin-NFAT signaling cascade	IBA	biological process
GO:0070885	negative regulation of calcineurin-NFAT signaling cascade	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0019722	calcium-mediated signaling	IEA	biological process
GO:0033173	calcineurin-NFAT signaling cascade	IEA	biological process
GO:0043666	regulation of phosphoprotein phosphatase activity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa04921	Oxytocin signaling pathway
hsa04919	Thyroid hormone signaling pathway

Diseases

Associated diseases	References
Down syndrome	KEGG:H01552
Down syndrome	KEGG:H01552
Alzheimer's disease	PMID:11483593
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881