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Aliases for RCAN1 Gene

Aliases for RCAN1 Gene

  • Regulator Of Calcineurin 1 2 3 4 5
  • Myocyte-Enriched Calcineurin-Interacting Protein 1 3 4
  • Down Syndrome Critical Region Gene 1 2 3
  • ADAPT78 3 4
  • DSCR1 3 4
  • MCIP1 3 4
  • DSC1 3 4
  • CSP1 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 Down Syndrome and Mixed Malaria. Among its related pathways are Thyroid hormone signaling pathway and Oxytocin signaling pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and calcium-dependent protein serine/threonine phosphatase regulator 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

Enhancers for RCAN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21F034543 1.9 VISTA FANTOM5 Ensembl ENCODE 21.2 +69.6 69575 4.1 PKNOX1 ARNT SIN3A ZNF143 ZNF207 JUNB TBX21 PPARG KAT8 MEF2D RCAN1 KCNE1 GC21M034521 GC21M034577
GH21F034557 0.2 ENCODE 21.1 +56.3 56324 2.0 NRF1 ZNF644 ATF2 FOSL1 HIC1 ZNF366 ATF3 EED PRDM10 ZNF600 RCAN1 C21orf140 GC21M034577 GC21M034521
GH21F034589 0.9 Ensembl ENCODE 20.4 +21.2 21223 8.1 HDAC1 ATF1 PKNOX1 TBL1XR1 ZNF133 KLF13 SMAD5 ZBTB11 CEBPB NR2F2 RCAN1 KCNE1 C21orf140 MRPS6 GC21M034577 GC21M034614 GC21M034615
GH21F034551 1.4 FANTOM5 Ensembl ENCODE 20.4 +61.9 61873 2.8 LEF1 PKNOX1 JUN CEBPG ZIC2 HIC1 FOS HOMEZ ZNF639 SP3 RCAN1 KCNE1 C21orf140 GC21M034521 GC21M034577
GH21F034576 0.2 Ensembl 20.2 +39.8 39842 0.2 RCAN1 KCNE1 GC21M034577 GC21M034521
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RCAN1 on UCSC Golden Path with GeneCards custom track

Promoters for RCAN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000613091 342 2400 PKNOX1 ARNT CREB3L1 ARID4B SIN3A YY1 ZNF143 ZNF207 FOS SP3

Genomic Location for RCAN1 Gene

Chromosome:
21
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

Genes around RCAN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RCAN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for RCAN1 Gene

Protein Domains for RCAN1 Gene

Suggested Antigen Peptide Sequences for RCAN1 Gene

Graphical View of Domain Structure for InterPro Entry

P53805

UniProtKB/Swiss-Prot:

RCAN1_HUMAN :
  • Belongs to the RCAN family.
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 transcription factor activity, sequence-specific DNA binding TAS 8595418
GO:0008597 calcium-dependent protein serine/threonine phosphatase regulator activity IBA --
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:

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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 5
cytosol 4
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RCAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
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 & Interactions for RCAN1 Gene

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

Pathways by source for RCAN1 Gene

SIGNOR curated interactions for RCAN1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RCAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007165 signal transduction TAS 8595418
GO:0007417 central nervous system development TAS 8595418
GO:0007519 skeletal muscle tissue development IEA --
GO:0008015 blood circulation TAS 8595418
genes like me logo Genes that share ontologies with RCAN1: view

Drugs & Compounds for RCAN1 Gene

(6) Drugs for RCAN1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(3) Additional Compounds for RCAN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for RCAN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RCAN1 Gene

This gene is overexpressed in Fetal Brain (42.7), Frontal cortex (17.1), and Spinal cord (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RCAN1 Gene



Protein tissue co-expression partners for RCAN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RCAN1 Gene:

RCAN1

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 expression patterns with RCAN1: view

Primer Products

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 RCAN1 34
  • 99.15 (n)
DSCR1 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RCAN1 34 35
  • 90.09 (n)
mouse
(Mus musculus)
Mammalia Rcan1 34 16 35
  • 87.28 (n)
cow
(Bos Taurus)
Mammalia RCAN1 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RCAN1 35
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RCAN1 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves RCAN1 35
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RCAN1 35
  • 60 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rcan1a 35
  • 54 (a)
OneToMany
rcan1b 35
  • 48 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sra 35
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rcn-1 35
  • 37 (a)
OneToMany
Species where no ortholog for RCAN1 was found in the sources mined by GeneCards:
  • 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

(3) 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
rs1012598 -- 34,522,570(+) TTTAT(A/T)CTTGA intron-variant
rs1012599 -- 34,523,334(+) GGGGC(A/G)ATGTC intron-variant
rs1034302 -- 34,600,641(+) TTTCT(C/T)CAATA intron-variant
rs1041747 -- 34,600,329(+) TTTGC(C/T)CTCTT intron-variant
rs10432783 -- 34,553,680(+) ATGAA(A/C)CACTG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv4426n100 CNV gain 25217958
dgv7824n54 CNV gain 21841781
esv2762109 CNV gain 21179565
esv3568159 CNV loss 25503493
esv3575386 CNV gain 25503493
esv3646923 CNV loss 21293372
nsv1055429 CNV gain 25217958
nsv1055971 CNV gain 25217958
nsv1072173 CNV deletion 25765185
nsv1144000 CNV deletion 24896259
nsv518782 CNV gain 19592680
nsv523533 CNV loss 19592680
nsv587428 CNV loss 21841781
nsv7345 OTHER inversion 18451855
nsv817929 CNV gain 17921354

Variation tolerance for RCAN1 Gene

Residual Variation Intolerance Score: 54.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.57; 12.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RCAN1 Gene

Human Gene Mutation Database (HGMD)
RCAN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RCAN1

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

Disorders for RCAN1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RCAN1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • complete trisomy 21 syndrome
mixed malaria
  • malaria by more than one parasite
chromosomal disease
  • chromosomal disorders
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search RCAN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RCAN1

Genetic Association Database (GAD)
RCAN1
Human Genome Epidemiology (HuGE) Navigator
RCAN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RCAN1
genes like me logo Genes that share disorders with RCAN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 64
  2. 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 22 64
  3. 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 22 64
  4. Integrative genomics identifies DSCR1 (RCAN1) as a novel NFAT-dependent mediator of phenotypic modulation in vascular smooth muscle cells. (PMID: 19926569) Lee M.Y. … Wamhoff B.R. (Hum. Mol. Genet. 2010) 3 22 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for RCAN1 Gene

Sources for RCAN1 Gene

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