Format

Send to:

Choose Destination

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

Gene ID: 1827, updated on 7-Dec-2018

Summary

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
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

Genomic context

See RCAN1 in Genome Data Viewer
Location:
21q22.12
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 21 NC_000021.9 (34516442..34615142, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (35888782..35987382, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372793 Neighboring gene small integral membrane protein 34A Neighboring gene potassium voltage-gated channel subfamily E regulatory subunit 1 Neighboring gene VISTA enhancer hs2084 Neighboring gene chloride intracellular channel 6 Neighboring gene uncharacterized LOC107985515 Neighboring gene long intergenic non-protein coding RNA 160

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
calcium-dependent protein serine/threonine phosphatase regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
blood circulation TAS
Traceable Author Statement
more info
PubMed 
calcineurin-NFAT signaling cascade IEA
Inferred from Electronic Annotation
more info
 
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of calcineurin-NFAT signaling cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of calcineurin-NFAT signaling cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of phosphoprotein phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

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)

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_007071.1 RefSeqGene

    Range
    4942..103643
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001285389.2NP_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:4164
    Calcipressin; Calcipressin
  2. NM_001285391.2NP_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/Swiss-Prot
    P53805
    UniProtKB/TrEMBL
    E9PDJ2, Q6ZMM3
    Related
    ENSP00000370527.4, ENST00000381135.7
    Conserved Domains (1) summary
    pfam04847
    Location:109270
    Calcipressin; Calcipressin
  3. NM_001285392.2NP_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:1110
    RRM_SF; RNA recognition motif (RRM) superfamily
  4. NM_001285393.2NP_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:1110
    RRM_SF; RNA recognition motif (RRM) superfamily
  5. NM_001331016.1NP_001317945.1  calcipressin-1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AK293293, AP000326, DC331441
    Consensus CDS
    CCDS82668.1
    UniProtKB/TrEMBL
    B7Z1F0, V9GYW9
    Related
    ENSP00000477155.1, ENST00000492600.1
    Conserved Domains (1) summary
    cd12708
    Location:11103
    RRM_RCAN1; RNA recognition motif in vertebrate regulator of calcineurin 1 (RCAN1)
  6. NM_004414.7NP_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
    P53805
    Related
    ENSP00000320768.4, ENST00000313806.8
    Conserved Domains (1) summary
    pfam04847
    Location:77245
    Calcipressin; Calcipressin
  7. NM_203417.2NP_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:1110
    RRM_SF; RNA recognition motif (RRM) superfamily
  8. NM_203418.2NP_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, DC331441, U85267
    Consensus CDS
    CCDS33551.1
    UniProtKB/Swiss-Prot
    P53805
    UniProtKB/TrEMBL
    Q6FGP2
    Related
    ENSP00000370524.2, ENST00000381132.6
    Conserved Domains (1) summary
    pfam04847
    Location:23190
    Calcipressin; Calcipressin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p12 Primary Assembly

    Range
    34516442..34615142 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028283.1XP_016883772.1  calcipressin-1 isoform X2

    UniProtKB/TrEMBL
    E9PDJ2
    Related
    ENSP00000417926.1, ENST00000481448.5
    Conserved Domains (1) summary
    pfam04847
    Location:109270
    Calcipressin; Calcipressin
  2. XM_005260929.2XP_005260986.1  calcipressin-1 isoform X3

    Conserved Domains (1) summary
    cl17169
    Location:77199
    RRM_SF; RNA recognition motif (RRM) superfamily
  3. XM_017028282.2XP_016883771.1  calcipressin-1 isoform X1

Support Center