RCAN3

Protein-coding gene in the species Homo sapiens
RCAN3
Identifiers
AliasesRCAN3, DSCR1L2, MCIP3, RCN3, hRCN3, RCAN family member 3
External IDsOMIM: 605860; MGI: 1858220; HomoloGene: 8388; GeneCards: RCAN3; OMA:RCAN3 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for RCAN3
Genomic location for RCAN3
Band1p36.11Start24,502,351 bp[1]
End24,541,040 bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for RCAN3
Genomic location for RCAN3
Band4 D3|4 67.59 cMStart135,139,619 bp[2]
End135,161,164 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • bronchial epithelial cell

  • sperm

  • cerebellar vermis

  • corpus epididymis

  • parotid gland

  • oral cavity

  • islet of Langerhans

  • caput epididymis

  • palpebral conjunctiva

  • thymus
Top expressed in
  • secondary oocyte

  • islet of Langerhans

  • ventral tegmental area

  • dorsal tegmental nucleus

  • dorsomedial hypothalamic nucleus

  • paraventricular nucleus of hypothalamus

  • cerebellar vermis

  • pituitary gland

  • arcuate nucleus

  • supraoptic nucleus
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • protein binding
  • troponin I binding
  • calcium-dependent protein serine/threonine phosphatase regulator activity
  • RNA binding
  • nucleic acid binding
  • phosphatase binding
Cellular component
  • cytoplasm
Biological process
  • regulation of calcineurin-NFAT signaling cascade
  • anatomical structure morphogenesis
  • calcium-mediated signaling
  • regulation of phosphoprotein phosphatase activity
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

11123

53902

Ensembl

ENSG00000117602

ENSMUSG00000059713

UniProt

Q9UKA8

Q9JKK0

RefSeq (mRNA)
NM_013441
NM_001251977
NM_001251978
NM_001251979
NM_001251980

NM_001251981
NM_001251982
NM_001251983
NM_001251984
NM_001251985

NM_022980

RefSeq (protein)
NP_001238906
NP_001238907
NP_001238908
NP_001238909
NP_001238910

NP_001238911
NP_001238912
NP_001238913
NP_001238914
NP_038469

NP_075356

Location (UCSC)Chr 1: 24.5 – 24.54 MbChr 4: 135.14 – 135.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

RCAN3 is a gene that in humans encodes the Calcipressin-3 protein.

Calcipressin-1, which shares a similar function to Calcipressin-3. Both repress calcineurin.

Calcipressin-3 is a protein that in humans is encoded by the RCAN3 gene and is a member of the Calcipressin family of proteins.[5][6]

Expression

RCAN3 is highly expressed in the Cerebellar Hemisphere, Prostrate, and the Mucosa of the esophagus.[7]

Orthologs

RCAN3 was present in the common ancestor of all animals. As a result, orthologs are present in other species, including mice (Rcan3), chickens (RCAN3), and zebrafish (rcan3).[8]

Clinical Significance

Calcipressin-3, along with the other two Calcipressin proteins have been identified as possible contributing factors to Down Syndrome in humans.[9]

Summary box

N/A

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000117602 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000059713 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Strippoli P, Lenzi L, Petrini M, Carinci P, Zannotti M (May 2000). "A new gene family including DSCR1 (Down Syndrome Candidate Region 1) and ZAKI-4: characterization from yeast to human and identification of DSCR1-like 2, a novel human member (DSCR1L2)". Genomics. 64 (3): 252–63. doi:10.1006/geno.2000.6127. PMID 10756093.
  6. ^ "Entrez Gene: DSCR1L2 Down syndrome critical region gene 1-like 2".
  7. ^ "Gene Expression in 53 tissues from GTEx RNA-seq of 8555 samples (570 donors) (RCAN3)". genome.ucsc.edu. Retrieved 2020-06-11.
  8. ^ "RCAN3 Gene - GeneCards | RCAN3 Protein | RCAN3 Antibody". www.genecards.org. Retrieved 2020-06-11.
  9. ^ "InterPro". www.ebi.ac.uk. Retrieved 2020-06-11.

Further reading

  • Facchin F, Canaider S, Vitale L, et al. (2008). "Identification and analysis of human RCAN3 (DSCR1L2) mRNA and protein isoforms". Gene. 407 (1–2): 159–68. doi:10.1016/j.gene.2007.10.006. PMID 18022329.
  • Mulero MC, Aubareda A, Schlüter A, Pérez-Riba M (2007). "RCAN3, a novel calcineurin inhibitor that down-regulates NFAT-dependent cytokine gene expression". Biochim. Biophys. Acta. 1773 (3): 330–41. doi:10.1016/j.bbamcr.2006.12.007. PMID 17270291.
  • Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
  • Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
  • Canaider S, Facchin F, Griffoni C, et al. (2006). "Proteins encoded by human Down syndrome critical region gene 1-like 2 (DSCR1L2) mRNA and by a novel DSCR1L2 mRNA isoform interact with cardiac troponin I (TNNI3)". Gene. 372: 128–36. doi:10.1016/j.gene.2005.12.029. hdl:11586/196835. PMID 16516408.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
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