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Aliases for RCAN1 Gene

Aliases for RCAN1 Gene

  • Regulator Of Calcineurin 1 2 3 4
  • DSCR1 3 4 6
  • MCIP1 3 4 6
  • CSP1 3 4 6
  • Myocyte-Enriched Calcineurin-Interacting Protein 1 3 4
  • Down Syndrome Critical Region Gene 1 2 3
  • ADAPT78 3 4
  • DSC1 3 4
  • Modulatory Calcineurin-Interacting Protein 1 3
  • Down Syndrome Critical Region Protein 1 4
  • Calcium And Oxidant-Inducible MRNA 3
  • Down Syndrome Candidate Region 1 3
  • Near DSCR Proline-Rich Protein 3
  • Calcipressin-1 3
  • RCN1 3

External Ids for RCAN1 Gene

Previous HGNC Symbols for RCAN1 Gene

  • DSCR1

Previous GeneCards Identifiers for RCAN1 Gene

  • GC21M034811
  • GC21M035885
  • GC21M021367

Summaries for RCAN1 Gene

Entrez Gene Summary for RCAN1 Gene

  • 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]

GeneCards Summary for RCAN1 Gene

RCAN1 (Regulator Of Calcineurin 1) is a Protein Coding gene. Diseases associated with RCAN1 include mixed malaria and down syndrome. Among its related pathways are GPCR Pathway and MicroRNAs in cardiomyocyte hypertrophy. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is RCAN2.

UniProtKB/Swiss-Prot for RCAN1 Gene

  • Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development

Gene Wiki entry for RCAN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RCAN1 Gene

Genomics for RCAN1 Gene

Regulatory Elements for RCAN1 Gene

Genomic Location for RCAN1 Gene

Start:
34,513,142 bp from pter
End:
34,615,142 bp from pter
Size:
102,001 bases
Orientation:
Minus strand

Genomic View for RCAN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RCAN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RCAN1 Gene

Proteins for RCAN1 Gene

  • Protein details for RCAN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53805-RCAN1_HUMAN
    Recommended name:
    Calcipressin-1
    Protein Accession:
    P53805
    Secondary Accessions:
    • D3DSF9
    • O00582
    • O00583
    • Q53XT0
    • Q6IBC6
    • Q7Z555
    • Q96R03
    • Q9BU69
    • Q9UF15
    • Q9UME4

    Protein attributes for RCAN1 Gene

    Size:
    252 amino acids
    Molecular mass:
    28079 Da
    Quaternary structure:
    • Interacts with RAF1.

    Alternative splice isoforms for RCAN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RCAN1 Gene

Proteomics data for RCAN1 Gene at MOPED

Post-translational modifications for RCAN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RCAN1 Gene

Domains for RCAN1 Gene

Protein Domains for RCAN1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RCAN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P53805

UniProtKB/Swiss-Prot:

RCAN1_HUMAN :
  • P53805
Family:
  • Belongs to the RCAN family.
genes like me logo Genes that share domains with RCAN1: view

No data available for Gene Families for RCAN1 Gene

Function for RCAN1 Gene

Molecular function for RCAN1 Gene

UniProtKB/Swiss-Prot Function: Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development
UniProtKB/Swiss-Prot Induction: By calcium

Gene Ontology (GO) - Molecular Function for RCAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 8595418
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 8595418
GO:0005515 protein binding IPI 15935327
GO:0008597 calcium-dependent protein serine/threonine phosphatase regulator activity IBA --
GO:0042802 identical protein binding IPI 24021800
genes like me logo Genes that share ontologies with RCAN1: view
genes like me logo Genes that share phenotypes with RCAN1: view

Animal Models for RCAN1 Gene

MGI Knock Outs for RCAN1:

miRNA for RCAN1 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for RCAN1 Gene

Localization for RCAN1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RCAN1 Gene COMPARTMENTS Subcellular localization image for RCAN1 gene
Compartment Confidence
nucleus 4
cytosol 2
cytoskeleton 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RCAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 8595418
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with RCAN1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RCAN1 Gene

Pathways for RCAN1 Gene

genes like me logo Genes that share pathways with RCAN1: view

Gene Ontology (GO) - Biological Process for RCAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002931 response to ischemia --
GO:0006355 regulation of transcription, DNA-templated TAS 8595418
GO:0006979 response to oxidative stress --
GO:0007165 signal transduction TAS 8595418
GO:0007417 central nervous system development TAS 8595418
genes like me logo Genes that share ontologies with RCAN1: view

Compounds for RCAN1 Gene

(1) HMDB Compounds for RCAN1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(9) Novoseek inferred chemical compound relationships for RCAN1 Gene

Compound -log(P) Hits PubMed IDs
ts 16 65.9 4
tacrolimus 46.5 1
cyclosporin a 45.6 1
threonine 40.6 3
serine 31.1 3
genes like me logo Genes that share compounds with RCAN1: view

Transcripts for RCAN1 Gene

Unigene Clusters for RCAN1 Gene

Regulator of calcineurin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RCAN1 Gene

No ASD Table

Relevant External Links for RCAN1 Gene

GeneLoc Exon Structure for
RCAN1
ECgene alternative splicing isoforms for
RCAN1

Expression for RCAN1 Gene

mRNA expression in normal human tissues for RCAN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RCAN1 Gene

SOURCE GeneReport for Unigene cluster for RCAN1 Gene Hs.282326

mRNA Expression by UniProt/SwissProt for RCAN1 Gene

P53805-RCAN1_HUMAN
Tissue specificity: Highly expressed heart, brain and skeletal muscle. Also expressed in all other tissues
genes like me logo Genes that share expressions with RCAN1: view

No data available for mRNA differential expression in normal tissues for RCAN1 Gene

Orthologs for RCAN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RCAN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DSCR1 36
  • 99 (a)
OneToOne
RCAN1 35
  • 99.15 (n)
  • 98.29 (a)
cow
(Bos Taurus)
Mammalia RCAN1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RCAN1 35
  • 90.09 (n)
  • 93.98 (a)
RCAN1 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rcan1 35
  • 87.28 (n)
  • 91.97 (a)
Rcan1 16
Rcan1 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RCAN1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RCAN1 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves RCAN1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RCAN1 36
  • 60 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rcan1a 36
  • 54 (a)
OneToMany
rcan1b 36
  • 48 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sra 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rcn-1 36
  • 37 (a)
OneToMany
Species with no ortholog for RCAN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RCAN1 Gene

ENSEMBL:
Gene Tree for RCAN1 (if available)
TreeFam:
Gene Tree for RCAN1 (if available)

Paralogs for RCAN1 Gene

Paralogs for RCAN1 Gene

Selected SIMAP similar genes for RCAN1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with RCAN1: view

Variants for RCAN1 Gene

Sequence variations from dbSNP and Humsavar for RCAN1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs6741 -- 34,516,806(-) CCTTA(C/G)AATAC utr-variant-3-prime
rs8320 -- 34,516,855(-) TTTTT(C/T)TAGTT utr-variant-3-prime
rs14676 -- 34,516,657(-) TGAAC(G/T)TTCTC utr-variant-3-prime
rs715157 -- 34,575,677(+) GCCAC(A/C)GTGCC intron-variant
rs724386 -- 34,536,169(-) TGCCT(A/G)TGGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RCAN1 Gene

Variant ID Type Subtype PubMed ID
nsv523533 CNV Loss 19592680
nsv913726 CNV Loss 21882294
nsv518782 CNV Gain 19592680
nsv817929 CNV Gain 17921354
nsv7345 OTHER Inversion 18451855

Relevant External Links for RCAN1 Gene

HapMap Linkage Disequilibrium report
RCAN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RCAN1 Gene

Disorders for RCAN1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for RCAN1 Gene including...

Search for RCAN1 Gene in MalaCards »

(2) University of Copenhagen DISEASES for RCAN1 Gene

(11) Novoseek inferred disease relationships for RCAN1 Gene

Disease -log(P) Hits PubMed IDs
down syndrome 82.2 45
cardiac hypertrophy 58 2
paired helical filament 49.7 1
neurofibrillary tangles 41.4 2
trisomy 34.1 7

Relevant External Links for RCAN1

Genetic Association Database (GAD)
RCAN1
Human Genome Epidemiology (HuGE) Navigator
RCAN1
genes like me logo Genes that share disorders with RCAN1: view

No data available for UniProtKB/Swiss-Prot for RCAN1 Gene

Publications for RCAN1 Gene

  1. A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart. (PMID: 8595418) Fuentes J.-J. … Estivill X. (Hum. Mol. Genet. 1995) 2 3 4 23
  2. DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways. (PMID: 10861295) Fuentes J.J. … de la Luna S. (Hum. Mol. Genet. 2000) 3 4 23
  3. Phosphorylation of calcipressin 1 increases its ability to inhibit calcineurin and decreases calcipressin half-life. (PMID: 12809556) Genesca L. … Perez-Riba M. (Biochem. J. 2003) 3 4 23
  4. Chronic overexpression of the calcineurin inhibitory gene DSCR1 (Adapt78) is associated with Alzheimer's disease. (PMID: 11483593) Ermak G. … Davies K.J. (J. Biol. Chem. 2001) 3 23
  5. Down syndrome critical region protein 1 (DSCR1), a novel VEGF target gene that regulates expression of inflammatory markers on activated endothelial cells. (PMID: 15016650) Hesser B.A. … Gerber H.P. (Blood 2004) 3 23

Products for RCAN1 Gene

Sources for RCAN1 Gene

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