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RCAN1 regulator of calcineurin 1 [ Homo sapiens (human) ]

Gene ID: 1827, updated on 5-Mar-2024

Summary

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Official Symbol
RCAN1provided by HGNC
Official Full Name
regulator of calcineurin 1provided by HGNC
Primary source
HGNC:HGNC:3040
See related
Ensembl:ENSG00000159200 MIM:602917; AllianceGenome:HGNC:3040
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CSP1; DSC1; RCN1; DSCR1; MCIP1; ADAPT78
Summary
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]
Expression
Broad expression in liver (RPKM 56.9), placenta (RPKM 30.5) and 22 other tissues See more
Orthologs
mouse all
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Genomic context

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See RCAN1 in Genome Data Viewer
Location:
21q22.12
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (34516442..34615113, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (32899007..32997690, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (35888740..35987412, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene salivary glue protein Sgs-3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:35788990-35790189 Neighboring gene NANOG hESC enhancer GRCh37_chr21:35802003-35802504 Neighboring gene small integral membrane protein 34 Neighboring gene NANOG hESC enhancer GRCh37_chr21:35825641-35826142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35827602-35828102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35828103-35828603 Neighboring gene small nucleolar RNA SNORA11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35831243-35832104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35832105-35832965 Neighboring gene potassium voltage-gated channel subfamily E regulatory subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18395 Neighboring gene VISTA enhancer hs2084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35954416-35954916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35954917-35955417 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13269 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13273 Neighboring gene chloride intracellular channel 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:36095588-36096365 Neighboring gene uncharacterized LOC107985515 Neighboring gene long intergenic non-protein coding RNA 160

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Overexpression of RCAN1, a Gene on Human Chromosome 21, Alters Cell Redox and Mitochondrial Function in Enamel Cells. Li Y, et al. Cells, 2022 Nov 11. PMID 36429004, Free PMC Article
  2. Targeting upregulated RNA binding protein RCAN1.1: a promising strategy for neuroprotection in acute ischemic stroke. Yun Y, et al. CNS Neurosci Ther, 2022 Nov. PMID 35900849, Free PMC Article
  3. RCAN1-mediated calcineurin inhibition as a target for cancer therapy. Lao M, et al. Mol Med, 2022 Jun 18. PMID 35717152, Free PMC Article
  4. Increased basal antioxidant levels in RCAN1 - deficient mice lowers oxidative injury after acute paraquat insult. Lloret A, et al. Free Radic Res, 2020 Jun. PMID 32686528
  5. Inhibition of miR-103a-3p suppresses the proliferation in oral squamous cell carcinoma cells via targeting RCAN1. Zhang G, et al. Neoplasma, 2020 May. PMID 32122140

See all (134) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CircIQGAP1 regulates RCAN1 and RCAN2 through the mechanism of ceRNA and promotes the growth of malignant glioma.
    Title: CircIQGAP1 regulates RCAN1 and RCAN2 through the mechanism of ceRNA and promotes the growth of malignant glioma.
  2. The RCAN1.4 Metastasis Suppressor Is Hypermethylated at Intron 1 in Thyroid Cancer.
    Title: The RCAN1.4 Metastasis Suppressor Is Hypermethylated at Intron 1 in Thyroid Cancer.
  3. Overexpression of RCAN1, a Gene on Human Chromosome 21, Alters Cell Redox and Mitochondrial Function in Enamel Cells.
    Title: Overexpression of RCAN1, a Gene on Human Chromosome 21, Alters Cell Redox and Mitochondrial Function in Enamel Cells.
  4. Targeting upregulated RNA binding protein RCAN1.1: a promising strategy for neuroprotection in acute ischemic stroke.
    Title: Targeting upregulated RNA binding protein RCAN1.1: a promising strategy for neuroprotection in acute ischemic stroke.
  5. Regulator of calcineurin 1 deletion attenuates mitochondrial dysfunction and apoptosis in acute kidney injury through JNK/Mff signaling pathway.
    Title: Regulator of calcineurin 1 deletion attenuates mitochondrial dysfunction and apoptosis in acute kidney injury through JNK/Mff signaling pathway.
  6. RCAN1-mediated calcineurin inhibition as a target for cancer therapy.
    Title: RCAN1-mediated calcineurin inhibition as a target for cancer therapy.
  7. STAT3-regulated LncRNA LINC00160 mediates cell proliferation and cell metabolism of prostate cancer cells by repressing RCAN1 expression.
    Title: STAT3-regulated LncRNA LINC00160 mediates cell proliferation and cell metabolism of prostate cancer cells by repressing RCAN1 expression.
  8. Down Syndrome Candidate Region 1 Isoform 1L regulated tumor growth by targeting both angiogenesis and tumor cells.
    Title: Down Syndrome Candidate Region 1 Isoform 1L regulated tumor growth by targeting both angiogenesis and tumor cells.
  9. NFAT indicates nucleocytoplasmic damped oscillation via its feedback modulator.
    Title: NFAT indicates nucleocytoplasmic damped oscillation via its feedback modulator.
  10. The RCAN1.4-calcineurin/NFAT signaling pathway is essential for hypoxic adaption of intervertebral discs.
    Title: The RCAN1.4-calcineurin/NFAT signaling pathway is essential for hypoxic adaption of intervertebral discs.
Submit: New GeneRIF Correction See all GeneRIFs (108)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-04-26)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-04-26)

ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium-dependent protein serine/threonine phosphatase regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in calcineurin-NFAT signaling cascade IEA
Inferred from Electronic Annotation
more info
  
involved_in calcium-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in locomotion involved in locomotory behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of calcineurin-NFAT signaling cascade IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to ischemia IEA
Inferred from Electronic Annotation
more info
  
involved_in response to oxidative stress IEA
Inferred from Electronic Annotation
more info
  
involved_in short-term memory IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal muscle fiber development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
calcipressin-1
Names
Down syndrome candidate region 1
Down syndrome critical region gene 1
calcium and oxidant-inducible mRNA
modulatory calcineurin-interacting protein 1
myocyte-enriched calcineurin-interacting protein 1
near DSCR proline-rich protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007071.2 RefSeqGene

    Range
    5000..103671
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001285389.2 → NP_001272318.1  calcipressin-1 isoform d

    See identical proteins and their annotated locations for NP_001272318.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate 5' exon compared to variant 1. The resulting isoform (d) has a distinct N-terminus compared to isoform a.
    Source sequence(s)
    AI079710, U28833
    Consensus CDS
    CCDS74790.1
    UniProtKB/Swiss-Prot
    P53805
    Related
    ENSP00000382214.1, ENST00000399272.5
    Conserved Domains (1) summary
    pfam04847
    Location:4 → 164
    Calcipressin; Calcipressin

  2. NM_001285391.2 → NP_001272320.2  calcipressin-1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate promoter and 5' exon compared to variant 1. The resulting isoform (e) has a distinct N-terminus compared to isoform a.
    Source sequence(s)
    AI079710, AK131569, BC002864, DB023862
    Consensus CDS
    CCDS74788.1
    UniProtKB/TrEMBL
    E9PD55, E9PDJ2
    Related
    ENSP00000370527.4, ENST00000381135.7
    Conserved Domains (1) summary
    pfam04847
    Location:109 → 270
    Calcipressin; Calcipressin

  3. NM_001285392.2 → NP_001272321.1  calcipressin-1 isoform b

    See identical proteins and their annotated locations for NP_001272321.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate promoter and 5' exon compared to variant 1. The resulting isoform (b) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AI079710, BC002864, DB023862
    Consensus CDS
    CCDS42921.1
    UniProtKB/Swiss-Prot
    P53805
    Conserved Domains (1) summary
    cl17169
    Location:1 → 110
    RRM_SF; RNA recognition motif (RRM) superfamily

  4. NM_001285393.2 → NP_001272322.1  calcipressin-1 isoform b

    See identical proteins and their annotated locations for NP_001272322.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate promoter and 5' exon compared to variant 1. The resulting isoform (b) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AI079710, BC002864, DA586027
    Consensus CDS
    CCDS42921.1
    UniProtKB/Swiss-Prot
    P53805
    Related
    ENSP00000477646.1, ENST00000620920.4
    Conserved Domains (1) summary
    cl17169
    Location:1 → 110
    RRM_SF; RNA recognition motif (RRM) superfamily

  5. NM_001331016.2 → NP_001317945.1  calcipressin-1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AK293293, AP000326
    Consensus CDS
    CCDS82668.1
    UniProtKB/TrEMBL
    B7Z1F0, V9GYW9
    Related
    ENSP00000477155.1, ENST00000492600.1
    Conserved Domains (1) summary
    cd12708
    Location:11 → 103
    RRM_RCAN1; RNA recognition motif in vertebrate regulator of calcineurin 1 (RCAN1)

  6. NM_004414.7 → NP_004405.3  calcipressin-1 isoform a

    See identical proteins and their annotated locations for NP_004405.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AI079710, AY325903
    Consensus CDS
    CCDS13637.1
    UniProtKB/Swiss-Prot
    D3DSF9, O00582, O00583, P53805, Q53XT0, Q6IBC6, Q7Z555, Q96R03, Q9BU69, Q9UF15, Q9UME4
    Related
    ENSP00000320768.4, ENST00000313806.9
    Conserved Domains (1) summary
    pfam04847
    Location:77 → 245
    Calcipressin

  7. NM_203417.2 → NP_981962.1  calcipressin-1 isoform b

    See identical proteins and their annotated locations for NP_981962.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AI079710, DA503835, U85265
    Consensus CDS
    CCDS42921.1
    UniProtKB/Swiss-Prot
    P53805
    Related
    ENSP00000392438.2, ENST00000443408.6
    Conserved Domains (1) summary
    cl17169
    Location:1 → 110
    RRM_SF; RNA recognition motif (RRM) superfamily

  8. NM_203418.3 → NP_981963.1  calcipressin-1 isoform c

    See identical proteins and their annotated locations for NP_981963.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' exon compared to variant 1. The resulting isoform (c) has a distinct N-terminus compared to isoform a.
    Source sequence(s)
    AI079710, U85267
    Consensus CDS
    CCDS33551.1
    UniProtKB/TrEMBL
    Q6FGP2
    Related
    ENSP00000370524.2, ENST00000381132.6
    Conserved Domains (1) summary
    pfam04847
    Location:23 → 190
    Calcipressin; Calcipressin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    34516442..34615113 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    32899007..32997690 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P53805.4 GenPept UniProtKB/Swiss-Prot:P53805

Gene LinkOut

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