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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
  • 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 Oxytocin signaling pathway and Thyroid hormone 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

Promoters for RCAN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RCAN1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for RCAN1 Gene at MOPED

Post-translational modifications for RCAN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

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:0000166 nucleotide binding IEA --
GO:0003677 DNA binding TAS 8595418
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

CRISPR 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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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:0007165 signal transduction TAS 8595418
GO:0007417 central nervous system development TAS 8595418
GO:0008015 blood circulation TAS 8595418
GO:0009612 response to mechanical stimulus IEA --
GO:0019722 calcium-mediated signaling IEA --
genes like me logo Genes that share ontologies with RCAN1: view

Drugs & Compounds for RCAN1 Gene

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

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:

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

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, 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 expression patterns with RCAN1: view

Protein tissue co-expression partners for RCAN1 Gene

Primer Products

In Situ Assay 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 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 36
  • 85 (a)
OneToOne
RCAN1 35
  • 90.09 (n)
  • 93.98 (a)
mouse
(Mus musculus)
Mammalia Rcan1 36
  • 82 (a)
OneToOne
Rcan1 35
  • 87.28 (n)
  • 91.97 (a)
Rcan1 16
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

(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
rs6741 -- 34,516,806(-) CCTTA(C/G)AATAC utr-variant-3-prime
rs1041747 -- 34,600,329(+) TTTGC(C/T)CTCTT intron-variant
rs1060273 -- 34,516,537(-) AAATA(C/T)TTTTT utr-variant-3-prime
rs1060276 -- 34,516,528(-) TTTTA(A/C)CTGCA utr-variant-3-prime
rs1125040 -- 34,594,833(-) GTTAC(A/G)ATTCC 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

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

HapMap Linkage Disequilibrium report
RCAN1
Human Gene Mutation Database (HGMD)
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 23 67
  2. 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 23
  3. Association of metastin/a G-protein-coupled receptor signaling and Down syndrome critical region 1 in epithelial ovarian cancer. (PMID: 19331211) Hata K. … Hoshiai H. (Anticancer Res. 2009) 3 23
  4. Down syndrome candidate region-1 protein interacts with Tollip and positively modulates interleukin-1 receptor-mediated signaling. (PMID: 19716405) Lee J.Y. … Chung K.C. (Biochim. Biophys. Acta 2009) 3 23
  5. Activation of adenylate cyclase by forskolin increases the protein stability of RCAN1 (DSCR1 or Adapt78). (PMID: 19755121) Seo S.R. … Chung K.C. (FEBS Lett. 2009) 3 23

Products for RCAN1 Gene

Sources for RCAN1 Gene

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