• Gene id: 5534

Gene Summary

• Gene Symbol: PPP3R1   Gene   UCSC   Ensembl
• Aliases: CALNB1, CNB, CNB1
• Gene name: protein phosphatase 3 regulatory subunit B, alpha
• Alternate names: calcineurin subunit B type 1, calcineurin B, type I (19kDa), protein phosphatase 2B regulatory subunit 1, protein phosphatase 2B regulatory subunit B alpha, protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I,
• Gene location: 2p14 (68252531: 68178856)     Exons: 6     NC_000002.12
• OMIM: 617457

SNPs

rs12676

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.53823776A>C
NC_000003.12   g.53823776A>T
NC_000003.11   g.53857803A>C
NC_000003.11   g.53857803A>T
NG_028042.1   g.27618T>G
NG_028042.1   g.27618T>A
NM_018397.5   c.233T>G
NM_018397.5   c.233T>A
NM_018397.4   c.233T>G
NM_018397.4   c.233T>A
XM_006713251  

Protein Summary

• Protein general information: P63098  
  • Name: Calcineurin subunit B type 1 (Protein phosphatase 2B regulatory subunit 1) (Protein phosphatase 3 regulatory subunit B alpha isoform 1)
  • Length: 170  
  • Mass: 19300
• Sequence:

  MGNEASYPLEMCSHFDADEIKRLGKRFKKLDLDNSGSLSVEEFMSLPELQQNPLVQRVIDIFDTDGNGEVDFKEF
  IEGVSQFSVKGDKEQKLRFAFRIYDMDKDGYISNGELFQVLKMMVGNNLKDTQLQQIVDKTIINADKDGDGRISF
  EEFCAVVGGLDIHKKMVVDV

• Structural information:
  • Protein Domains: (18..5-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (50..8-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (87..12-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0044-)
  • Interpro: IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • CDD: cd00051
  • PDB: 1AUI 1M63 1MF8 2P6B 3LL8 4F0Z 4OR9 4ORA 4ORC 5SVE 6NUC 6NUF 6NUU
  • PDBsum: 1AUI 1M63 1MF8 2P6B 3LL8 4F0Z 4OR9 4ORA 4ORC 5SVE 6NUC 6NUF 6NUU
  • DIP: 6096
  • STRING: ENSP00000234310
• Other Databases: GeneCards:  PPP3R1  Malacards:  PPP3R1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007223	Wnt signaling pathway, calcium modulating pathway	TAS	biological process
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038095	Fc-epsilon receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005955	calcineurin complex	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0033173	calcineurin-NFAT signaling cascade	IDA	biological process
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0005955	calcineurin complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016018	cyclosporin A binding	IDA	molecular function
GO:0005955	calcineurin complex	IDA	cellular component
GO:0005955	calcineurin complex	IDA	cellular component
GO:0016018	cyclosporin A binding	IDA	molecular function
GO:0005955	calcineurin complex	IDA	cellular component
GO:0005955	calcineurin complex	IDA	cellular component
GO:0005955	calcineurin complex	IDA	cellular component
GO:0004723	calcium-dependent protein serine/threonine phosphatase activity	NAS	molecular function
GO:0005955	calcineurin complex	NAS	cellular component
GO:0005509	calcium ion binding	NAS	molecular function
GO:0005516	calmodulin binding	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019902	phosphatase binding	IPI	molecular function
GO:0019902	phosphatase binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04010	MAPK signaling pathway
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa04020	Calcium signaling pathway
hsa04360	Axon guidance
hsa05170	Human immunodeficiency virus 1 infection
hsa04310	Wnt signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa05152	Tuberculosis
hsa04921	Oxytocin signaling pathway
hsa04218	Cellular senescence
hsa04724	Glutamatergic synapse
hsa04380	Osteoclast differentiation
hsa04114	Oocyte meiosis
hsa04922	Glucagon signaling pathway
hsa04650	Natural killer cell mediated cytotoxicity
hsa04625	C-type lectin receptor signaling pathway
hsa04660	T cell receptor signaling pathway
hsa04659	Th17 cell differentiation
hsa04662	B cell receptor signaling pathway
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa04658	Th1 and Th2 cell differentiation
hsa04720	Long-term potentiation
hsa05031	Amphetamine addiction
hsa04924	Renin secretion
hsa05014	Amyotrophic lateral sclerosis
hsa04370	VEGF signaling pathway

Diseases

Associated diseases	References
Alzheimer's disease	PMID:23727081
Cardiomyopathy	PMID:15012912
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881