PPP3R1 protein phosphatase 3 regulatory subunit B, alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP3R1provided by HGNC
Official Full Name: protein phosphatase 3 regulatory subunit B, alphaprovided by HGNC
Primary source: HGNC:HGNC:9317
See related: Ensembl:ENSG00000221823 MIM:601302; AllianceGenome:HGNC:9317
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CNB; CNB1; CALNB1
Summary: Enables phosphatase binding activity and protein domain specific binding activity. Involved in calcineurin-NFAT signaling cascade and positive regulation of transcription by RNA polymerase II. Part of calcineurin complex. Implicated in Alzheimer's disease and dilated cardiomyopathy. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in brain (RPKM 81.4), fat (RPKM 34.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p14

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (68178857..68252532, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (68189412..68263096, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (68405989..68479664, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PPP3R1 Promotes MSCs Senescence by Inducing Plasma Membrane Depolarization and Increasing Ca[2+] Influx.
Title: PPP3R1 Promotes MSCs Senescence by Inducing Plasma Membrane Depolarization and Increasing Ca(2+) Influx.
The CnB1 p.D102A variant is linked to dilated cardiomyopathy via impaired Calcineurin activity.
Title: The CnB1 p.D102A variant is linked to dilated cardiomyopathy via impaired Calcineurin activity.
A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58.
Title: A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58.
iTRAQ results show that let-7e is associated with the expression of anti-viral proteins. What's more, calcineurin subunit B type 1, an anti-tumor factor, is upregulated by let-7e after LPS stimulation
Title: Effects of let-7e on LPS-Stimulated THP-1 Cells Assessed by iTRAQ Proteomic Analysis.
expression of PPP3R1 decreased respectively in psoriatic lesions and HaCaT cells.
Title: MiR-548a-3p Promotes Keratinocyte Proliferation Targeting PPP3R1 after Being Induced by IL-22.
The CnB 5I/5D variation was found to be significantly associated with CAD. The 5-base pair deletion results in increased serum calcineurin levels.
Title: Association of CnB 5I/5D promoter gene polymorphism and serum calcineurin levels in early onset of coronary artery disease of south Indian cohort.
The mRNA expressions of PPP3CB and MEF2C were significantly up-regulated, and CAMK1 and PPP3R1 were significantly down-regulated in mitral regurgitation(MR) patients compared to normal subjects. Moreover, MR patients had significantly increased mRNA levels of PPP3CB, MEF2C and PLCE1 compared to aortic valve disease patients
Title: Exploring Regulatory Mechanisms of Atrial Myocyte Hypertrophy of Mitral Regurgitation through Gene Expression Profiling Analysis: Role of NFAT in Cardiac Hypertrophy.
we report that exogenous CnB is taken up by cells in a time- and concentration-dependent manner via clathrin-dependent receptor-mediated internalization. Our findings further confirm that uptake is mediated by the TLR4/MD2 complex together with the co-receptor CD14
Title: Cellular uptake of exogenous calcineurin B is dependent on TLR4/MD2/CD14 complexes, and CnB is an endogenous ligand of TLR4.
CnB is a novel host-derived immunostimulatory factor, having a role as an agonist in monocytes, and specificity in TLR4 signaling through TRAF3 and TRAF6, in response to various agonists.
Title: Calcineurin B stimulates cytokine production through a CD14-independent Toll-like receptor 4 pathway.
Data (including data from micro-dissected trophoblasts and trophoblastic BeWo cell line) suggest that microRNA-512-3p participates in placental function by targeting PPP3R1, encoding a regulatory subunit of calcineurin B.
Title: Placenta-specific miRNA (miR-512-3p) targets PPP3R1 encoding the calcineurin B regulatory subunit in BeWo cells.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120-induced dephosphorylation of KV2.1 is dependent on NMDA receptor-mediated activation of protein phosphatase 2B or calcineurin	PubMed
Tat	tat	HIV-1 Tat 47-59 peptide upregulates gene expression of protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (PPP3R1) in U-937 macrophages	PubMed
	tat	Induction of TNF-alpha by HIV-1 Tat is inhibited by cyclosporin A, an inhibitor of calcineurin that acts by preventing the dephosphorylation of NF-AT, suggesting Tat activates calcineurin	PubMed

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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

SHGC-30955 (e-PCR)
- UniSTS:59955

RH12230 (e-PCR)
- UniSTS:52280

G60033 (e-PCR)
- UniSTS:137299

RH120881 (e-PCR)
- UniSTS:25450

PPP3R1_8560 (e-PCR)
- UniSTS:467841

G44336 (e-PCR)
- UniSTS:95123

D2S2724 (e-PCR)
- UniSTS:75166

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	NAS Non-traceable Author Statement more info	PubMed
enables calcium-dependent protein serine/threonine phosphatase activity	NAS Non-traceable Author Statement more info	PubMed
enables calcium-dependent protein serine/threonine phosphatase regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	NAS Non-traceable Author Statement more info	PubMed
enables phosphatase binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in branching involved in blood vessel morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in calcineurin-NFAT signaling cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcineurin-NFAT signaling cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in epithelial to mesenchymal transition	IEA Inferred from Electronic Annotation more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in lung epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in myelination in peripheral nervous system	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of calcium ion import across plasma membrane	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of calcineurin-NFAT signaling cascade	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of calcium ion import across plasma membrane	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in postsynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in protein import into nucleus	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic neurotransmitter receptor internalization	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic vesicle cycle	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
part_of calcineurin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of calcineurin complex	IDA Inferred from Direct Assay more info	PubMed
part_of calcineurin complex	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in hippocampal mossy fiber to CA3 synapse	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in parallel fiber to Purkinje cell synapse	IEA Inferred from Electronic Annotation more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
part_of protein serine/threonine phosphatase complex	NAS Non-traceable Author Statement more info	PubMed
located_in sarcolemma	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: calcineurin subunit B type 1

Names: calcineurin B, type I (19kDa); protein phosphatase 2B regulatory subunit 1; protein phosphatase 2B regulatory subunit B alpha

NP_000936.1

EC 3.1.3.16

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.