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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 NFAT and Cardiac Hypertrophy and Thyroid hormone signaling pathway. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and calcium-dependent protein serine/threonine phosphatase regulator activity. An important paralog of this gene is RCAN3.

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

Additional gene information for RCAN1 Gene

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

Genomics for RCAN1 Gene

GeneHancer (GH) Regulatory Elements for RCAN1 Gene

Promoters and enhancers for RCAN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21I034521 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 554.8 +90.6 90593 8.5 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 RCAN1 KCNE1 CLIC6 ENSG00000272958 SMIM34A GC21M034521
GH21I034615 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.1 66 1.8 PKNOX1 ARID4B SIN3A IRF4 YY1 ZNF213 E2F8 ZNF207 ZNF143 FOS GC21M034614 GC21M034615 GC21P034615 RCAN1
GH21I034614 Promoter 1.4 EPDnew Ensembl 550.8 +1.2 1241 0.2 ZNF148 ZFHX2 EGR1 PATZ1 MZF1 CUX1 MGA EGR2 GC21M034614 GC21M034615 RCAN1 GC21M034577
GH21I034543 Enhancer 2.1 VISTA FANTOM5 Ensembl ENCODE dbSUPER 21.2 +69.6 69642 3.9 PKNOX1 FOXA2 SMAD1 ARNT IRF4 ZNF766 ZNF207 KLF13 JUNB REST DONSON C21orf140 RCAN1 KCNE1 CRYZL1 GC21M034521 GC21M034577
GH21I034551 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 20.5 +61.9 61872 2.8 RFX1 JUN FOSL1 JUND POLR2A CUX1 RUNX3 SETDB1 TRIM28 RCAN1 KCNE1 C21orf140 GC21M034577 GC21M034521
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RCAN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RCAN1 gene promoter:

Genomic Locations for RCAN1 Gene

Genomic Locations for RCAN1 Gene
chr21:34,513,142-34,615,142
(GRCh38/hg38)
Size:
102,001 bases
Orientation:
Minus strand
chr21:35,885,440-35,987,441
(GRCh37/hg19)

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

No Post-translational modifications

No data available for DME Specific Peptides for RCAN1 Gene

Domains & Families for RCAN1 Gene

Gene Families for RCAN1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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.

Phenotypes From GWAS Catalog for RCAN1 Gene

Gene Ontology (GO) - Molecular Function for RCAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 8595418
GO:0003700 DNA binding transcription factor activity 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:

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RCAN1 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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

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

(7) Drugs for RCAN1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Dipyridamole Approved Pharma Inhibition, Inhibitor, Target Adenosine transport inhibitor 84

(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:

CRISPR Products

Inhibitory RNA 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 CGAP 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.

Evidence on tissue expression from TISSUES for RCAN1 Gene

  • Heart(4.6)
  • Lung(4.4)
  • Nervous system(4.4)
  • Muscle(2.8)
  • Thyroid gland(2.8)
  • Skin(2.5)
  • Kidney(2.1)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with RCAN1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.15 (n)
DSCR1 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RCAN1 33 34
  • 90.09 (n)
mouse
(Mus musculus)
Mammalia Rcan1 33 16 34
  • 87.28 (n)
cow
(Bos Taurus)
Mammalia RCAN1 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RCAN1 34
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RCAN1 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves RCAN1 34
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RCAN1 34
  • 60 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rcan1a 34
  • 54 (a)
OneToMany
rcan1b 34
  • 48 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sra 34
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rcn-1 34
  • 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 Variation AA Info Type
rs1000003308 -- 34,540,200(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000051504 -- 34,574,048(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000079514 -- 34,535,303(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000105964 -- 34,605,362(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000112507 -- 34,599,605(-) C/G genic_upstream_transcript_variant, 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)

Additional Variant Information 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

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

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

Additional Disease Information for RCAN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JJ … Estivill X (Human molecular genetics 1995) 2 3 4 22 58
  2. Phosphorylation of calcipressin 1 increases its ability to inhibit calcineurin and decreases calcipressin half-life. (PMID: 12809556) Genescà L … Pérez-Riba M (The Biochemical journal 2003) 3 4 22 58
  3. DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways. (PMID: 10861295) Fuentes JJ … de la Luna S (Human molecular genetics 2000) 3 4 22 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Integrative genomics identifies DSCR1 (RCAN1) as a novel NFAT-dependent mediator of phenotypic modulation in vascular smooth muscle cells. (PMID: 19926569) Lee MY … Wamhoff BR (Human molecular genetics 2010) 3 22 58

Products for RCAN1 Gene

Sources for RCAN1 Gene

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