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PPP3R1 (protein phosphatase 3 regulatory subunit B, alpha)

Identity

Alias_namesprotein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I)
protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I)
protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform
protein phosphatase 3, regulatory subunit B, alpha
Alias_symbol (synonym)CALNB1
CNB
CNB1
Other alias
HGNC (Hugo) PPP3R1
LocusID (NCBI) 5534
Atlas_Id 46614
Location 2p14  [Link to chromosome band 2p14]
Location_base_pair Starts at 68178857 and ends at 68252519 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AKT1 (14q32.33) / PPP3R1 (2p14)MORC3 (21q22.12) / PPP3R1 (2p14)PPP3R1 (2p14) / CNRIP1 (2p14)
PPP3R1 (2p14) / SPATS2L (2q33.1)PPP3R1 (2p14) / TTC27 (2p22.3)PPP3R1 (2p14) / WDPCP (2p15)
STAT1 (2q32.2) / PPP3R1 (2p14)PPP3R1 2p14 / CNRIP1 2p14PPP3R1 2p14 / SPATS2L 2q33.1
PPP3R1 2p14 / TTC27 2p22.3PPP3R1 2p14 / WDPCP 2p15

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PPP3R1   9317
Cards
Entrez_Gene (NCBI)PPP3R1  5534  protein phosphatase 3 regulatory subunit B, alpha
AliasesCALNB1; CNB; CNB1
GeneCards (Weizmann)PPP3R1
Ensembl hg19 (Hinxton)ENSG00000221823 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000221823 [Gene_View]  chr2:68178857-68252519 [Contig_View]  PPP3R1 [Vega]
ICGC DataPortalENSG00000221823
TCGA cBioPortalPPP3R1
AceView (NCBI)PPP3R1
Genatlas (Paris)PPP3R1
WikiGenes5534
SOURCE (Princeton)PPP3R1
Genetics Home Reference (NIH)PPP3R1
Genomic and cartography
GoldenPath hg38 (UCSC)PPP3R1  -     chr2:68178857-68252519 -  2p14   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PPP3R1  -     2p14   [Description]    (hg19-Feb_2009)
EnsemblPPP3R1 - 2p14 [CytoView hg19]  PPP3R1 - 2p14 [CytoView hg38]
Mapping of homologs : NCBIPPP3R1 [Mapview hg19]  PPP3R1 [Mapview hg38]
OMIM601302   
Gene and transcription
Genbank (Entrez)AK307136 AK314893 BC027913 BM468705 BQ228635
RefSeq transcript (Entrez)NM_000945
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PPP3R1
Cluster EST : UnigeneHs.280604 [ NCBI ]
CGAP (NCI)Hs.280604
Alternative Splicing GalleryENSG00000221823
Gene ExpressionPPP3R1 [ NCBI-GEO ]   PPP3R1 [ EBI - ARRAY_EXPRESS ]   PPP3R1 [ SEEK ]   PPP3R1 [ MEM ]
Gene Expression Viewer (FireBrowse)PPP3R1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5534
GTEX Portal (Tissue expression)PPP3R1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP63098   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP63098  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP63098
Splice isoforms : SwissVarP63098
PhosPhoSitePlusP63098
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom   
Domain families : Pfam (Sanger)EF-hand_7 (PF13499)   
Domain families : Pfam (NCBI)pfam13499   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)PPP3R1
DMDM Disease mutations5534
Blocks (Seattle)PPP3R1
PDB (SRS)1AUI    1M63    1MF8    2P6B    3LL8    4F0Z    4OR9    4ORA    4ORC    5SVE   
PDB (PDBSum)1AUI    1M63    1MF8    2P6B    3LL8    4F0Z    4OR9    4ORA    4ORC    5SVE   
PDB (IMB)1AUI    1M63    1MF8    2P6B    3LL8    4F0Z    4OR9    4ORA    4ORC    5SVE   
PDB (RSDB)1AUI    1M63    1MF8    2P6B    3LL8    4F0Z    4OR9    4ORA    4ORC    5SVE   
Structural Biology KnowledgeBase1AUI    1M63    1MF8    2P6B    3LL8    4F0Z    4OR9    4ORA    4ORC    5SVE   
SCOP (Structural Classification of Proteins)1AUI    1M63    1MF8    2P6B    3LL8    4F0Z    4OR9    4ORA    4ORC    5SVE   
CATH (Classification of proteins structures)1AUI    1M63    1MF8    2P6B    3LL8    4F0Z    4OR9    4ORA    4ORC    5SVE   
SuperfamilyP63098
Human Protein AtlasENSG00000221823
Peptide AtlasP63098
HPRD03195
IPIIPI00027464   IPI00917487   IPI00917915   IPI00969541   
Protein Interaction databases
DIP (DOE-UCLA)P63098
IntAct (EBI)P63098
FunCoupENSG00000221823
BioGRIDPPP3R1
STRING (EMBL)PPP3R1
ZODIACPPP3R1
Ontologies - Pathways
QuickGOP63098
Ontology : AmiGObranching involved in blood vessel morphogenesis  epithelial to mesenchymal transition  calcium-dependent protein serine/threonine phosphatase activity  calcium ion binding  protein binding  calmodulin binding  nucleoplasm  mitochondrion  cytosol  calcineurin complex  calcineurin complex  protein dephosphorylation  Wnt signaling pathway, calcium modulating pathway  heart development  cyclosporin A binding  protein domain specific binding  myelination in peripheral nervous system  calcineurin-NFAT signaling cascade  Fc-epsilon receptor signaling pathway  sarcolemma  positive regulation of transcription from RNA polymerase II promoter  NFAT protein import into nucleus  positive regulation of NFAT protein import into nucleus  lung epithelial cell differentiation  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  
Ontology : EGO-EBIbranching involved in blood vessel morphogenesis  epithelial to mesenchymal transition  calcium-dependent protein serine/threonine phosphatase activity  calcium ion binding  protein binding  calmodulin binding  nucleoplasm  mitochondrion  cytosol  calcineurin complex  calcineurin complex  protein dephosphorylation  Wnt signaling pathway, calcium modulating pathway  heart development  cyclosporin A binding  protein domain specific binding  myelination in peripheral nervous system  calcineurin-NFAT signaling cascade  Fc-epsilon receptor signaling pathway  sarcolemma  positive regulation of transcription from RNA polymerase II promoter  NFAT protein import into nucleus  positive regulation of NFAT protein import into nucleus  lung epithelial cell differentiation  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  
Pathways : KEGG   
NDEx NetworkPPP3R1
Atlas of Cancer Signalling NetworkPPP3R1
Wikipedia pathwaysPPP3R1
Orthology - Evolution
OrthoDB5534
GeneTree (enSembl)ENSG00000221823
Phylogenetic Trees/Animal Genes : TreeFamPPP3R1
HOVERGENP63098
HOGENOMP63098
Homologs : HomoloGenePPP3R1
Homology/Alignments : Family Browser (UCSC)PPP3R1
Gene fusions - Rearrangements
Fusion : MitelmanPPP3R1/SPATS2L [2p14/2q33.1]  
Fusion : MitelmanPPP3R1/TTC27 [2p14/2p22.3]  [t(2;2)(p14;p22)]  
Fusion: TCGAPPP3R1 2p14 CNRIP1 2p14 LUAD
Fusion: TCGAPPP3R1 2p14 SPATS2L 2q33.1 LUAD
Fusion: TCGAPPP3R1 2p14 TTC27 2p22.3 BRCA
Fusion: TCGAPPP3R1 2p14 WDPCP 2p15 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPPP3R1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPP3R1
dbVarPPP3R1
ClinVarPPP3R1
1000_GenomesPPP3R1 
Exome Variant ServerPPP3R1
ExAC (Exome Aggregation Consortium)PPP3R1 (select the gene name)
Genetic variants : HAPMAP5534
Genomic Variants (DGV)PPP3R1 [DGVbeta]
DECIPHERPPP3R1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPPP3R1 
Mutations
ICGC Data PortalPPP3R1 
TCGA Data PortalPPP3R1 
Broad Tumor PortalPPP3R1
OASIS PortalPPP3R1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDPPP3R1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PPP3R1
DgiDB (Drug Gene Interaction Database)PPP3R1
DoCM (Curated mutations)PPP3R1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PPP3R1 (select a term)
intoGenPPP3R1
Cancer3DPPP3R1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601302   
Orphanet
MedgenPPP3R1
Genetic Testing Registry PPP3R1
NextProtP63098 [Medical]
TSGene5534
GENETestsPPP3R1
Target ValidationPPP3R1
Huge Navigator PPP3R1 [HugePedia]
snp3D : Map Gene to Disease5534
BioCentury BCIQPPP3R1
ClinGenPPP3R1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5534
Chemical/Pharm GKB GenePA33681
Clinical trialPPP3R1
Miscellaneous
canSAR (ICR)PPP3R1 (select the gene name)
Probes
Litterature
PubMed70 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePPP3R1
EVEXPPP3R1
GoPubMedPPP3R1
iHOPPPP3R1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:50:46 CEST 2017

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