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This gene encodes a carbohydrate binding protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities. The encoded protein affects glycogen biosynthesis by activating glycogen synthase and limiting glycogen breakdown by reducing glycogen phosphorylase activity. DNA hypermethylation of this gene has been found in colorectal cancer patients. The encoded protein also interacts with the laforin protein, which is a protein tyrosine phosphatase implicated in Lafora disease. [provided by RefSeq, Sep 2016]
PPP1R3C (Protein Phosphatase 1 Regulatory Subunit 3C) is a Protein Coding gene. Diseases associated with PPP1R3C include Myoclonic Epilepsy Of Lafora and Glycogen Storage Disease Iv. Among its related pathways are Beta-Adrenergic Signaling and ERK Signaling. Gene Ontology (GO) annotations related to this gene include protein phosphatase binding and protein phosphatase regulator activity. An important paralog of this gene is PPP1R3B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004722 | protein serine/threonine phosphatase activity | TAS | 8985175 |
GO:0005515 | protein binding | IPI | 14532330 |
GO:0008157 | protein phosphatase 1 binding | IBA | 21873635 |
GO:0019903 | protein phosphatase binding | IEA,ISS | -- |
GO:2001069 | glycogen binding | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000164 | protein phosphatase type 1 complex | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
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
|
Insulin Receptor Pathway
.37
CDK5 Pathway
.36
|
3 | Myoclonic epilepsy of Lafora | ||
4 | Glucose metabolism | ||
5 | Insulin resistance |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0005977 | glycogen metabolic process | ISS | -- |
GO:0005978 | glycogen biosynthetic process | IEA,TAS | -- |
GO:0005979 | regulation of glycogen biosynthetic process | IBA | 21873635 |
GO:0006470 | protein dephosphorylation | IEA | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PPP1R3C 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PPP1R3C 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ppp1r3c 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PPP1R3C 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC100910671 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PPP1R3C 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PPP1R3C 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PPP1R3C 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PPP1R3C 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ppp1r3c.1 30 |
|
||
Str.11402 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.14255 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ppp1r3cb 30 31 |
|
OneToMany | |
ppp1r3ca 31 |
|
OneToMany | |||
zgc73259 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG9238 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | H18N23.2 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GIP2 33 |
|
|
|
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs193920921 | Uncertain Significance: Malignant tumor of prostate | 91,630,423(-) |
T/C NM_005398.7(PPP1R3C):c.458A>G (p.Gln153Arg) |
MISSENSE | |
rs373998228 | - |
p.Asn249Ser |
|||
rs7089948 | - |
p.Ala109Ser |
Disorder | Aliases | PubMed IDs |
---|---|---|
myoclonic epilepsy of lafora |
|
|
glycogen storage disease iv |
|
|