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

    Gene ID: 1827, updated on 28-Oct-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (34516442..34615113, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (32899007..32997690, complement)
    RS_2024_09 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 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. RCAN1 overexpression exacerbates calcium overloading-induced neuronal apoptosis. Sun X, et al. PLoS One, 2014. PMID 24751678, Free PMC Article
    2. Amyloid-β toxicity and tau hyperphosphorylation are linked via RCAN1 in Alzheimer's disease. Lloret A, et al. J Alzheimers Dis, 2011. PMID 21876249, Free PMC Article
    3. [Study of expression and significance of DSCR1 gene in laryngopharynx cancer and peri-cancerous tissues]. Lü C, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2011 Sep. PMID 22256743
    4. Identification of RCAN1's role in hepatocellular carcinoma using single-cell analysis. Yang Z, et al. BMC Cancer, 2024 Aug 27. PMID 39192218, Free PMC Article
    5. Regulation of RCAN1 translation and its role in oxidative stress-induced apoptosis. Wu Y, et al. FASEB J, 2013 Jan. PMID 23038757

    See all (141) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of RCAN1's role in hepatocellular carcinoma using single-cell analysis.
      Title: Identification of RCAN1's role in hepatocellular carcinoma using single-cell analysis.
    2. Suppression of RCAN1 alleviated lipid accumulation and mitochondrial fission in diabetic cardiomyopathy.
      Title: Suppression of RCAN1 alleviated lipid accumulation and mitochondrial fission in diabetic cardiomyopathy.
    3. Regulator of calcineurin 1 gene isoform 4 in pancreatic ductal adenocarcinoma regulates the progression of tumor cells.
      Title: Regulator of calcineurin 1 gene isoform 4 in pancreatic ductal adenocarcinoma regulates the progression of tumor cells.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. RCAN1-mediated calcineurin inhibition as a target for cancer therapy.
      Title: RCAN1-mediated calcineurin inhibition as a target for cancer therapy.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (111)

    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 identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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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    NEW Try the new Transcript table

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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