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This gene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes of the young. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jan 2011]
PPP1R3B (Protein Phosphatase 1 Regulatory Subunit 3B) is a Protein Coding gene. Diseases associated with PPP1R3B include Maturity-Onset Diabetes Of The Young and Bjornstad Syndrome. Among its related pathways are Activation of cAMP-Dependent PKA and Beta-Adrenergic Signaling. Gene Ontology (GO) annotations related to this gene include enzyme binding and protein phosphatase regulator activity. An important paralog of this gene is PPP1R3C.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004721 | phosphoprotein phosphatase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 15231748 |
GO:0008157 | protein phosphatase 1 binding | IBA | 21873635 |
GO:0019888 | protein phosphatase regulator activity | IEA | -- |
GO:0019899 | enzyme binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000164 | protein phosphatase type 1 complex | IEA,IBA | 21873635 |
GO:0042587 | glycogen granule | IEA | -- |
GO:0043231 | intracellular membrane-bounded organelle | 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 | Beta-Adrenergic Signaling |
Beta-Adrenergic Signaling
.37
Erythropoietin Pathway
.37
|
CDK5 Pathway
.37
Insulin Receptor Pathway
.37
|
3 | Insulin resistance | ||
4 | Regulation of lipid metabolism Insulin signaling-generic cascades | ||
5 | mTOR Pathway |
.32
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0005977 | glycogen metabolic process | IEA | -- |
GO:0005979 | regulation of glycogen biosynthetic process | IEA,IBA | 21873635 |
GO:0005981 | regulation of glycogen catabolic process | IDA | 22225877 |
GO:0006470 | protein dephosphorylation | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PPP1R3B 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ppp1r3b 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PPP1R3B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PPP1R3B 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ppp1r3b 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PPP1R3B 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | PPP1R3B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PPP1R3B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ppp1r3b 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ppp1r3b 30 31 |
|
OneToOne | |
Dr.4453 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG9238 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | H18N23.2 30 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs984779373 | Uncertain Significance: not provided | 9,141,134(-) | G/A | MISSENSE_VARIANT | |
rs3748140 | - | p.Gly48Glu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1371e214 | CNV | gain | 21293372 |
dgv1372e214 | CNV | loss | 21293372 |
esv2660363 | CNV | deletion | 23128226 |
esv3616157 | CNV | loss | 21293372 |
nsv436801 | CNV | insertion | 17901297 |
nsv610206 | CNV | loss | 21841781 |
nsv824529 | CNV | gain | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
maturity-onset diabetes of the young |
|
|
bjornstad syndrome |
|
|