Human Gene RCAN1 (ENST00000381132.6) from GENCODE V44
  Description: Homo sapiens regulator of calcineurin 1 (RCAN1), transcript variant 3, mRNA. (from RefSeq NM_203418)
RefSeq Summary (NM_203418): 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].
Gencode Transcript: ENST00000381132.6
Gencode Gene: ENSG00000159200.18
Transcript (Including UTRs)
   Position: hg38 chr21:34,516,484-34,526,963 Size: 10,480 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr21:34,518,084-34,526,749 Size: 8,666 Coding Exon Count: 4 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:34,516,484-34,526,963)mRNA (may differ from genome)Protein (197 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIOMIMPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RCAN1
Diseases sorted by gene-association score: down syndrome (26), mixed malaria (16), chromosomal disease (8), alzheimer disease (3), heart disease (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.79 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 498.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -67.30214-0.314 Picture PostScript Text
3' UTR -443.301600-0.277 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006931 - Calcipressin

Pfam Domains:
PF04847 - Calcipressin

ModBase Predicted Comparative 3D Structure on Q6FGP2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding

Biological Process:
GO:0019722 calcium-mediated signaling
GO:0033173 calcineurin-NFAT signaling cascade

Cellular Component:
GO:0005622 intracellular


-  Descriptions from all associated GenBank mRNAs
  BC002864 - Homo sapiens regulator of calcineurin 1, mRNA (cDNA clone MGC:10263 IMAGE:3944959), complete cds.
AK092184 - Homo sapiens cDNA FLJ34865 fis, clone NT2NE2014104, highly similar to Homo sapiens Down syndrome critical region gene 1 (DSCR1), transcript variant 1, mRNA.
AX747397 - Sequence 922 from Patent EP1308459.
U28833 - Homo sapiens Down syndrome candidate region protein (DSCR1) mRNA, complete cds.
U85265 - Homo sapiens down syndrome candiate region 1 (DSCR1) gene, alternative exon 1, complete cds.
U85266 - Homo sapiens down syndrome candidate region 1 (DSCR1) gene, alternative exon 1, complete cds.
AY325903 - Homo sapiens calcipressin 1 large isoform (DSCR1) mRNA, complete cds.
AF400429 - Homo sapiens Down syndrome critical region protein 1 (DSCR1) mRNA, complete cds.
CU678256 - Synthetic construct Homo sapiens gateway clone IMAGE:100020245 5' read RCAN1 mRNA.
HQ448344 - Synthetic construct Homo sapiens clone IMAGE:100071766; CCSB004422_01 regulator of calcineurin 1 (RCAN1) gene, encodes complete protein.
KJ901394 - Synthetic construct Homo sapiens clone ccsbBroadEn_10788 RCAN1 gene, encodes complete protein.
BT007363 - Homo sapiens Down syndrome critical region gene 1 mRNA, complete cds.
AK131569 - Homo sapiens cDNA FLJ16823 fis, clone UTERU2017492, highly similar to Calcipressin 1.
U85267 - Homo sapiens down syndrome candidate region 1 (DSCR1) gene, alternative exon 1, complete cds.
BC007884 - Homo sapiens Down syndrome critical region gene 1, mRNA (cDNA clone IMAGE:4123289), **** WARNING: chimeric clone ****.
AK055845 - Homo sapiens cDNA FLJ31283 fis, clone KIDNE2006820, highly similar to DOWN SYNDROME CRITICAL REGION PROTEIN 1.
JD043878 - Sequence 24902 from Patent EP1572962.
JD187896 - Sequence 168920 from Patent EP1572962.
JD295296 - Sequence 276320 from Patent EP1572962.
JD343440 - Sequence 324464 from Patent EP1572962.
JD445583 - Sequence 426607 from Patent EP1572962.
JD242965 - Sequence 223989 from Patent EP1572962.
JD202599 - Sequence 183623 from Patent EP1572962.
JD073344 - Sequence 54368 from Patent EP1572962.
JD280696 - Sequence 261720 from Patent EP1572962.
JD219864 - Sequence 200888 from Patent EP1572962.
JD538083 - Sequence 519107 from Patent EP1572962.
JD297567 - Sequence 278591 from Patent EP1572962.
JD486297 - Sequence 467321 from Patent EP1572962.
JD312321 - Sequence 293345 from Patent EP1572962.
JD200991 - Sequence 182015 from Patent EP1572962.
JD442157 - Sequence 423181 from Patent EP1572962.
JD514830 - Sequence 495854 from Patent EP1572962.
JD433266 - Sequence 414290 from Patent EP1572962.
JD565658 - Sequence 546682 from Patent EP1572962.
AK299444 - Homo sapiens cDNA FLJ55243 complete cds, highly similar to Calcipressin-1.
JD327281 - Sequence 308305 from Patent EP1572962.
JD050918 - Sequence 31942 from Patent EP1572962.
JD168203 - Sequence 149227 from Patent EP1572962.
JD048400 - Sequence 29424 from Patent EP1572962.
JD061213 - Sequence 42237 from Patent EP1572962.
CR542065 - Homo sapiens full open reading frame cDNA clone RZPDo834F0536D for gene DSCR1, Down syndrome critical region gene 1; complete cds, without stopcodon.
CR456878 - Homo sapiens full open reading frame cDNA clone RZPDo834H126D for gene DSCR1, Down syndrome critical region gene 1; complete cds, incl. stopcodon.
AK095069 - Homo sapiens cDNA FLJ37750 fis, clone BRHIP2023272.
AK293293 - Homo sapiens cDNA FLJ54923 complete cds, highly similar to Calcipressin-1.
AL049369 - Homo sapiens mRNA; cDNA DKFZp586D0518 (from clone DKFZp586D0518).
MP330178 - Sequence 143 from Patent WO2019180153.

-  Other Names for This Gene
  Alternate Gene Symbols: DSCR1, ENST00000381132.1, ENST00000381132.2, ENST00000381132.3, ENST00000381132.4, ENST00000381132.5, hCG_401172, NM_203418, Q6FGP2, Q6FGP2_HUMAN, uc002yub.1, uc002yub.2, uc002yub.3, uc002yub.4, uc002yub.5
UCSC ID: ENST00000381132.6
RefSeq Accession: NM_203418
Protein: Q6FGP2 CCDS: CCDS33551.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.