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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 MAPK Signaling: Oxidative Stress Pathway and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calmodulin binding. An important paralog of this gene is ENSG00000273398.
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 | -- |
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 | -- |
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 |
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 | -- |
Compound | Action | Cas Number |
---|---|---|
Pimecrolimus | 137071-32-0 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PPP3R1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Cow (Bos Taurus) |
Mammalia | PPP3R1 30 31 |
|
ManyToMany | |
WDR92 31 |
|
ManyToMany | |||
Dog (Canis familiaris) |
Mammalia | PPP3R1 30 |
|
||
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Ppp3r1 30 17 31 |
|
ManyToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Ppp3r1 30 |
|
||
Chicken (Gallus gallus) |
Aves | PPP3R1 30 31 |
|
ManyToMany | |
WDR92 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ppp3r1 30 |
|
||
MGC75600 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | ppp3r1a 30 31 |
|
ManyToMany | |
wdr92 31 |
|
ManyToMany | |||
nrarpa 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CanB 32 |
|
|
|
CanB2 30 32 |
|
||||
CG14353 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004298 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | cnb-1 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D02992g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CNB1 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AER096C 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G18430 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os08g0442300 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC830.06 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU03833 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.14820 30 |
|
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 |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1072948 | CNV | deletion | 25765185 |
nsv1126551 | CNV | deletion | 24896259 |
nsv834251 | CNV | loss | 17160897 |
nsv953138 | CNV | duplication | 24416366 |
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 |
|
|