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Aliases for PPP3R1 Gene
Aliases for PPP3R1 Gene
- CNB1 2 3
- Protein Phosphatase 3 (Formerly 2B), Regulatory Subunit B (19kD), Alpha Isoform (Calcineurin B, Type I) 2
- Protein Phosphatase 3 (Formerly 2B), Regulatory Subunit B, 19kDa, Alpha Isoform (Calcineurin B, Type I) 2
- Protein Phosphatase 3 (Formerly 2B), Regulatory Subunit B, Alpha Isoform 2
- Protein Phosphatase 3 Regulatory Subunit B Alpha Isoform 1 4
- Protein Phosphatase 3, Regulatory Subunit B, Alpha 2
- PPP3R1 5
- CNA2 4
External Ids for PPP3R1 Gene
- HGNC: 9317
- NCBI Entrez Gene: 5534
- Ensembl: ENSG00000221823
- OMIM®: 601302
- UniProtKB/Swiss-Prot: P63098
Previous GeneCards Identifiers for PPP3R1 Gene
- GC02M068539
- GC02M068363
- GC02M068324
- GC02M068380
- GC02M068261
- GC02M068317
- GC02M068259
- GC02M068358
- GC02M068405
Summaries for PPP3R1 Gene
GeneCards Summary for PPP3R1 Gene
PPP3R1 (Protein Phosphatase 3 Regulatory Subunit B, Alpha) is a Protein Coding gene. Diseases associated with PPP3R1 include Deafness, Autosomal Dominant 58 and Crouzon Syndrome With Acanthosis Nigricans. Among its related pathways are Pathways of neurodegeneration - multiple diseases and B Cell Receptor Signaling Pathway (sino). Gene Ontology (GO) annotations related to this gene include calcium ion binding and calmodulin binding. An important paralog of this gene is ENSG00000273398.
UniProtKB/Swiss-Prot Summary for PPP3R1 Gene
-
Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity.
Additional gene information for PPP3R1 Gene
- HGNC (9317)
- NCBI Entrez Gene (5534)
- Ensembl (ENSG00000221823)
- OMIM® (601302)
- UniProtKB/Swiss-Prot (P63098)
- Open Targets Platform(ENSG00000221823)
- Monarch Initiative
- Alliance of Genome Resources
- Search for PPP3R1 at DataMed
- Search for PPP3R1 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP3R1 Gene
Genomics for PPP3R1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PPP3R1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PPP3R1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP3R1
- Top Transcription factor binding sites by QIAGEN in the PPP3R1 gene promoter:
-
- aMEF-2
- AP-1
- c-Ets-1
- FOXO4
- GR
- GR-alpha
- MEF-2
- MEF-2A
Genomic Locations for PPP3R1 Gene
Latest Assembly
- chr2:68,178,857-68,256,237
- (GRCh38/hg38)
- Size:
- 77,381 bases
- Orientation:
- Minus strand
Previous Assembly
- chr2:68,405,989-68,479,664
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 73,676 bases
- Orientation:
- Minus strand
Genomic View for PPP3R1 Gene
Genes around PPP3R1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p14 by HGNC
- 2p14 by Entrez Gene
- 2p14 by Ensembl
PPP3R1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PPP3R1 Gene
Proteins for PPP3R1 Gene
-
Protein details for PPP3R1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P63098-CANB1_HUMAN
- Recommended name:
- Calcineurin subunit B type 1
- Protein Accession:
- P63098
- B2RC10
- B5MDU4
- P06705
- P15117
- Q08044
- Q53SL0
Protein attributes for PPP3R1 Gene
- Size:
- 170 amino acids
- Molecular mass:
- 19300 Da
- Quaternary structure:
-
- Forms a complex composed of a calmodulin-dependent catalytic subunit (also known as calcineurin A) and a regulatory Ca(2+)-binding subunit (also known as calcineurin B) (PubMed:8524402, PubMed:12218175, PubMed:12357034, PubMed:17498738, PubMed:22343722, PubMed:23468591, PubMed:26794871, PubMed:27974827). There are three catalytic subunits, each encoded by a separate gene (PPP3CA, PPP3CB, and PPP3CC) and two regulatory subunits which are also encoded by separate genes (PPP3R1 and PPP3R2). Interacts with catalytic subunit PPP3CA/calcineurin A (PubMed:8524402, PubMed:12218175, PubMed:12357034, PubMed:17498738, PubMed:22343722, PubMed:23468591, PubMed:27974827). Interacts with catalytic subunit PPP3CB/calcineurin A (PubMed:26794871). Interacts with CIB1 (via C-terminal region); the interaction increases upon cardiomyocyte hypertrophy (By similarity). Interacts with RCAN1 (PubMed:12809556).
- Miscellaneous:
-
- This protein has four functional calcium-binding sites (PubMed:8524402, PubMed:12218175, PubMed:12357034, PubMed:17498738, PubMed:22343722, PubMed:23468591, PubMed:26794871, PubMed:27974827). Although African swine fever virus infects pigs and not humans, human PPP3R1 and PPP3CA have been used for the crystallization. PPP3CA and PPP3R1 interact with African swine fever virus Mal-047/A238L (via PKIIIT and FLCVK motifs); the interaction does not block catalytic activity per se but inhibits PPP3CA function by blocking the access to the two substrate recognition (PubMed:23468591).
Protein Expression for PPP3R1 Gene
Post-translational modifications for PPP3R1 Gene
Other Protein References for PPP3R1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences PPP3R1 / Calcineurin B Antibody (LS-B11682) and PPP3R1 / Calcineurin B Antibody (LS-B13848)
- G Biosciences Immunotag™ PPP3R1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for PPP3R1
- Novus Biologicals Antibodies for PPP3R1
-
Abcam antibodies for PPP3R1
- Invitrogen Antibodies for PPP3R1 (AFLGC-PPP3R1)
-
Custom Antibody ServicesProSci Antibodies for PPP3R1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PPP3R1
- Sino Biological Antibodies for PPP3R1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for PPP3R1
- Origene Custom Protein Services for PPP3R1
- Sino Biological Cell Lysates for PPP3R1
- Sino Biological Recombinant Proteins for PPP3R1
- ProSpec Recombinant Proteins for PPP3R1
-
ProSci Proteins for PPP3R1
-
Abcam proteins for PPP3R1
Assay products for research
No data available for DME Specific Peptides for PPP3R1 Gene
Domains & Families for PPP3R1 Gene
Gene Families for PPP3R1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for PPP3R1 Gene
- InterPro:
- Blocks:
-
- Parvalbumin signature
- Calcium-binding protein, S-100/ICaBP type
Suggested Antigen Peptide Sequences for PPP3R1 Gene
- GenScript: Design optimal peptide antigens:
-
- Protein phosphatase 3 regulatory subunit B alpha isoform 1 (CANB1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P63098- Family:
-
- Belongs to the calcineurin regulatory subunit family.
Function for PPP3R1 Gene
Molecular function for PPP3R1 Gene
- UniProtKB/Swiss-Prot Function:
- Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity.
- GENATLAS Biochemistry:
- calcineurin B,calmodulin dependent protein serine/threonine phosphatase 3,regulatory subunit
Phenotypes From GWAS Catalog for PPP3R1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004723 | calcium-dependent protein serine/threonine phosphatase activity | NAS | 2558868 |
| GO:0005509 | calcium ion binding | IEA,NAS | 2558868 |
| GO:0005515 | protein binding | IPI | 8524402 |
| GO:0005516 | calmodulin binding | NAS | 2558868 |
| GO:0008597 | calcium-dependent protein serine/threonine phosphatase regulator activity | IEA | -- |
Phenotypes for PPP3R1 Gene
- MGI mutant phenotypes for PPP3R1:
-
inferred from 5 alleles
- nervous system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- mortality/aging
- renal/urinary system phenotype
- hematopoietic system phenotype
- endocrine/exocrine gland phenotype
- embryo phenotype
- GenomeRNAi human phenotypes for PPP3R1:
-
- shRNA abundance <= 25%
- shRNA abundance <= 50%
- no effect
- Decreased viability
- Moderately decreased NFAT1-GFP nuclear translocation
- Synthetic lethal with c-Myc after tamoxifen stimulation
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, decreased FA abundance, decreased cell spreading
- Decreased cell migration
- Metaphase cells
- Fragmented trans-Golgi
Animal Models for PPP3R1 Gene
- MGI Knock Outs for PPP3R1:
-
- Ppp3r1 Ppp3r1<tm2.1Grc>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PPP3R1 - Starting at $85 >
- * PPP3R1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PPP3R1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PPP3R1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPP3R1
miRNA for PPP3R1 Gene
- miRTarBase miRNAs that target PPP3R1
-
- hsa-miR-30a-5p (MIRT005180)
- mmu-miR-17-5p (MIRT009993)
- mmu-miR-340-5p (MIRT010319)
- mmu-miR-324-3p (MIRT010794)
- mmu-miR-26a-5p (MIRT011170)
- mmu-let-7b-5p (MIRT012073)
- mmu-miR-30e-5p (MIRT013315)
- mmu-miR-181a-5p (MIRT014145)
- mmu-miR-9-5p (MIRT015248)
- hsa-miR-183-5p (MIRT025005)
- hsa-miR-34a-5p (MIRT025426)
- hsa-miR-26b-5p (MIRT029303)
- hsa-miR-24-3p (MIRT030457)
- hsa-miR-532-3p (MIRT037914)
- hsa-miR-5189-3p (MIRT159806)
- hsa-miR-33a-3p (MIRT303230)
- hsa-miR-409-3p (MIRT303233)
- hsa-miR-376a-3p (MIRT439908)
- hsa-miR-369-3p (MIRT439909)
- hsa-miR-20a-5p (MIRT439910)
- hsa-miR-106b-5p (MIRT439911)
- hsa-miR-9-3p (MIRT442615)
- hsa-miR-4714-3p (MIRT442616)
- hsa-miR-656-3p (MIRT442617)
- hsa-miR-6763-3p (MIRT510950)
- hsa-miR-6758-3p (MIRT510951)
- hsa-miR-5587-3p (MIRT510952)
- hsa-miR-4707-5p (MIRT510953)
- hsa-miR-4704-5p (MIRT510954)
- hsa-miR-651-3p (MIRT521719)
- hsa-miR-548as-3p (MIRT521720)
- hsa-miR-548z (MIRT521721)
- hsa-miR-548h-3p (MIRT521722)
- hsa-miR-548d-3p (MIRT521723)
- hsa-miR-548bb-3p (MIRT521724)
- hsa-miR-548ac (MIRT521725)
- hsa-miR-578 (MIRT566293)
- hsa-miR-340-5p (MIRT566294)
- hsa-miR-3185 (MIRT566295)
- hsa-miR-3163 (MIRT566296)
- hsa-miR-5692a (MIRT571779)
- hsa-miR-629-3p (MIRT654811)
- hsa-miR-5006-3p (MIRT654812)
- hsa-miR-4755-5p (MIRT654813)
- hsa-miR-519e-5p (MIRT654814)
- hsa-miR-515-5p (MIRT654815)
- hsa-miR-623 (MIRT654816)
- hsa-miR-6734-3p (MIRT654817)
- hsa-miR-6756-3p (MIRT654818)
- hsa-miR-3127-3p (MIRT654819)
- hsa-miR-211-5p (MIRT654820)
- hsa-miR-204-5p (MIRT654821)
- hsa-miR-519d-3p (MIRT726875)
- hsa-miR-93-5p (MIRT726876)
- hsa-miR-17-5p (MIRT726877)
- hsa-miR-20b-5p (MIRT726878)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PPP3R1
- Browse OriGene Inhibitory RNA Products For PPP3R1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP3R1
Clone products for research
- Applied Biological Materials (abm): Clones for PPP3R1 - Starting at $45 >
- * PPP3R1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PPP3R1
- Addgene plasmids for PPP3R1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PPP3R1
Cell Lines for research
-
Horizon Cell Lines for PPP3R1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPP3R1 Gene
Localization for PPP3R1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PPP3R1 Gene
- Cytoplasm, cytosol. Cell membrane. Cell membrane, sarcolemma. Cell membrane. Lipid-anchor. Note=Translocates from the cytosol to the sarcolemma in a CIB1-dependent manner during cardiomyocyte hypertrophy. {ECO:0000250 UniProtKB:Q63810}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| nucleus | 4 |
| cytosol | 4 |
| mitochondrion | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | IEA | -- |
Pathways & Interactions for PPP3R1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
Activation of PKA through GPCR
.71
PKA Signaling
.56
|
| 2 | TCR Signaling (Qiagen) |
PKC-Theta Pathway
.68
TCR Signaling
.68
|
ITK and TCR Signaling
.54
Fc-EpsilonRI Pathway
.49
|
| 3 | CDK-mediated phosphorylation and removal of Cdc6 |
.41
|
.31
|
| 4 | Pathways of neurodegeneration - multiple diseases | ||
| 5 | Human cytomegalovirus infection | ||
Pathways by source for PPP3R1 Gene
3 Sino Biological pathways for PPP3R1 Gene
4 BioSystems pathways for PPP3R1 Gene
19 Reactome pathways for PPP3R1 Gene
1 PharmGKB pathway for PPP3R1 Gene
32 KEGG pathways for PPP3R1 Gene
4 GeneGo (Thomson Reuters) pathways for PPP3R1 Gene
- Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
- Immune response CD16 signaling in NK cells
- Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
- Signal transduction Activation of PKC via G-Protein coupled receptor
2 R&D Systems pathways for PPP3R1 Gene
32 Qiagen pathways for PPP3R1 Gene
- 14-3-3 Induced Apoptosis
- Activation of cAMP-Dependent PKA
- Activation of PKA through GPCR
- BAD Phosphorylation
- Calcium Mediated T-Cell Apoptosis
Interacting Proteins for PPP3R1 Gene
Selected Interacting proteins:
P63098-CANB1_HUMAN
ENSP00000234310
for PPP3R1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PPP3R1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006470 | protein dephosphorylation | IEA | -- |
| GO:0007223 | Wnt signaling pathway, calcium modulating pathway | TAS | -- |
| GO:0033173 | calcineurin-NFAT signaling cascade | IDA | 22688515 |
| GO:0038095 | Fc-epsilon receptor signaling pathway | TAS | -- |
| GO:0043666 | regulation of phosphoprotein phosphatase activity | IEA | -- |
No data available for SIGNOR curated interactions for PPP3R1 Gene
Drugs & Compounds for PPP3R1 Gene
(1) ApexBio Compounds for PPP3R1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Pimecrolimus | 137071-32-0 |
Drug products for research
- ApexBio compounds for PPP3R1
Transcripts for PPP3R1 Gene
mRNA/cDNA for PPP3R1 Gene
- 1 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000234310 3024 nts (view in UCSC)
- ENST00000409377 684 nts (view in UCSC)
- ENST00000409752 851 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PPP3R1 - Starting at $85 >
- * PPP3R1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PPP3R1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PPP3R1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPP3R1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PPP3R1
- Browse OriGene Inhibitory RNA Products For PPP3R1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP3R1
Clone products for research
- Applied Biological Materials (abm): Clones for PPP3R1 - Starting at $45 >
- * PPP3R1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PPP3R1
- Addgene plasmids for PPP3R1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PPP3R1
Relevant External Links for PPP3R1 Gene
- GeneLoc Exon Structure for
- PPP3R1
Expression for PPP3R1 Gene
mRNA differential expression in normal tissues according to GTEx for PPP3R1 Gene
This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.5).
This gene is overexpressed in Brain (24.9) and Fetal Brain (8.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPP3R1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP3R1
SOURCE GeneReport for Unigene cluster for PPP3R1 Gene:
Hs.280604Evidence on tissue expression from TISSUES for PPP3R1 Gene
- Blood(4.5)
- Nervous system(3.3)
- Muscle(2.7)
- Spleen(2.6)
- Heart(2.5)
- Kidney(2.5)
- Liver(2.5)
- Lung(2.4)
- Intestine(2.3)
Primer products for research
-
OriGene qPCR primer pairs for PPP3R1
-
OriGene qPCR primer pairs and template standards for PPP3R1
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP3R1 Gene
Orthologs for PPP3R1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PPP3R1 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 30 |
|
ManyToMany | |
| Cow (Bos Taurus) |
Mammalia | PPP3R1 29 30 |
|
ManyToMany | |
| WDR92 30 |
|
ManyToMany | |||
| Dog (Canis familiaris) |
Mammalia | PPP3R1 29 |
|
||
| -- 30 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Ppp3r1 29 16 30 |
|
ManyToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
ManyToMany | |
| -- 30 |
|
ManyToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Ppp3r1 29 |
|
||
| Chicken (Gallus gallus) |
Aves | PPP3R1 29 30 |
|
ManyToMany | |
| WDR92 30 |
|
ManyToMany | |||
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ppp3r1 29 |
|
||
| MGC75600 29 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | ppp3r1a 29 30 |
|
ManyToMany | |
| wdr92 30 |
|
ManyToMany | |||
| nrarpa 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CanB 31 |
|
|
|
| CanB2 29 31 |
|
||||
| CG14353 30 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004298 29 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | cnb-1 29 |
|
||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D02992g 29 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CNB1 29 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AER096C 29 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G18430 29 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os08g0442300 29 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC830.06 29 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU03833 29 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.14820 29 |
|
- Species where no ortholog for PPP3R1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for PPP3R1 Gene
- ENSEMBL:
- Gene Tree for PPP3R1 (if available)
- TreeFam:
- Gene Tree for PPP3R1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PPP3R1: view image
- Alliance of Genome Resources:
- Additional Orthologs for PPP3R1
Paralogs for PPP3R1 Gene
Paralogs for PPP3R1 Gene
(30) SIMAP similar genes for PPP3R1 Gene using alignment to 3 proteins:
- CANB1_HUMAN
- D3YTA9_HUMAN
- F6U1T9_HUMAN
Variants for PPP3R1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPP3R1 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs3039851 | Not Provided: not provided | 68,218,181(-) |
ATTAAT/A NM_000945.4(PPP3R1):c.4-1055_4-1051del |
INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1072948 | CNV | deletion | 25765185 |
| nsv1126551 | CNV | deletion | 24896259 |
| nsv834251 | CNV | loss | 17160897 |
| nsv953138 | CNV | duplication | 24416366 |
Residual Variation Intolerance Score:
55.3% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PPP3R1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP3R1 Gene
Disorders for PPP3R1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, autosomal dominant 58 |
|
|
| crouzon syndrome with acanthosis nigricans |
|
|
| spinocerebellar ataxia, x-linked 1 |
|
|
| spinocerebellar ataxia, x-linked 3 |
|
|
| spinocerebellar ataxia, x-linked 4 |
|
|
Search PPP3R1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PPP3R1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PPP3R1 Gene
Publications for PPP3R1 Gene
- Identification of a novel 5-base pair deletion in calcineurin B (PPP3R1) promoter region and its association with left ventricular hypertrophy. (PMID: 16209992) Tang W … Ferrell RE (American heart journal 2005) 3 22 40
- Isolation and sequence of a cDNA clone for human calcineurin B, the Ca2+-binding subunit of the Ca2+/calmodulin-stimulated protein phosphatase. (PMID: 2558868) Guerini D … Klee CB (DNA (Mary Ann Liebert, Inc.) 1989) 2 3 4
- Investigating the human Calcineurin Interaction Network using the πɸLxVP SLiM. (PMID: 27974827) Sheftic SR … Peti W (Scientific reports 2016) 3 4
- Cooperative autoinhibition and multi-level activation mechanisms of calcineurin. (PMID: 26794871) Li SJ … Wang ZX (Cell research 2016) 3 4
- The molecular mechanism of substrate engagement and immunosuppressant inhibition of calcineurin. (PMID: 23468591) Grigoriu S … Peti W (PLoS biology 2013) 3 4
ExternalLinks
Products for PPP3R1 Gene
- Custom Antibody ServicesOriGene Antibodies for PPP3R1
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Sources for PPP3R1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
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