PPP3R1

Calcineurin subunit B type 1 also known as protein phosphatase 2B regulatory subunit 1 is a protein that in humans is encoded by the PPP3R1 gene.[5][6][7]

PPP3R1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPPP3R1, CALNB1, CNB, CNB1, protein phosphatase 3 regulatory subunit B, alpha
External IDsOMIM: 601302 MGI: 107172 HomoloGene: 68099 GeneCards: PPP3R1
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2p14Start68,178,857 bp[1]
End68,256,237 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

5534

19058

Ensembl

ENSG00000221823

ENSMUSG00000033953

UniProt

P63098

Q63810

RefSeq (mRNA)

NM_000945

NM_024459

RefSeq (protein)

NP_000936

NP_077779

Location (UCSC)Chr 2: 68.18 – 68.26 MbChr 11: 17.16 – 17.2 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical significance

The presence of a single nucleotide polymorphism rs1868402 in the PPP3R1 gene is strongly correlated with rapid progress of Alzheimer's disease.[8]

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References

  1. GRCh38: Ensembl release 89: ENSG00000221823 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000033953 - 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. Wang MG, Yi H, Guerini D, Klee CB, McBride OW (Jan 1997). "Calcineurin A alpha (PPP3CA), calcineurin A beta (PPP3CB) and calcineurin B (PPP3R1) are located on human chromosomes 4, 10q21→q22 and 2p16→p15 respectively". Cytogenet Cell Genet. 72 (2–3): 236–41. doi:10.1159/000134198. PMID 8978785.
  6. Guerini D, Krinks MH, Sikela JM, Hahn WE, Klee CB (Mar 1990). "Isolation and sequence of a cDNA clone for human calcineurin B, the Ca2+-binding subunit of the Ca2+/calmodulin-stimulated protein phosphatase". DNA. 8 (9): 675–82. doi:10.1089/dna.1.1989.8.675. PMID 2558868.
  7. "Entrez Gene: PPP3R1 protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform".
  8. Cruchaga C, Kauwe JS, Mayo K, Spiegel N, Bertelsen S, et al. (2010). Myers AJ (ed.). "SNPs Associated with Cerebrospinal Fluid Phospho-Tau Levels Influence Rate of Decline in Alzheimer's Disease". PLoS Genet. 6 (9): e1001101. doi:10.1371/journal.pgen.1001101. PMC 2940763. PMID 20862329.

Further reading


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