Human Gene PPP1R3C (ENST00000238994.6) from GENCODE V44
  Description: Homo sapiens protein phosphatase 1 regulatory subunit 3C (PPP1R3C), mRNA. (from RefSeq NM_005398)
RefSeq Summary (NM_005398): 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].
Gencode Transcript: ENST00000238994.6
Gencode Gene: ENSG00000119938.9
Transcript (Including UTRs)
   Position: hg38 chr10:91,628,442-91,633,071 Size: 4,630 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg38 chr10:91,629,927-91,632,969 Size: 3,043 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:91,628,442-91,633,071)mRNA (may differ from genome)Protein (317 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGencode
GeneCardsHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PPR3C_HUMAN
DESCRIPTION: RecName: Full=Protein phosphatase 1 regulatory subunit 3C; AltName: Full=Protein phosphatase 1 regulatory subunit 5; Short=PP1 subunit R5; AltName: Full=Protein targeting to glycogen; Short=PTG;
FUNCTION: Acts as a glycogen-targeting subunit for PP1 and regulates its activity. Activates glycogen synthase, reduces glycogen phosphorylase activity and limits glycogen breakdown. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in a variety of cell types.
SUBUNIT: Interacts with PPP1CC catalytic subunit of PP1 and associates with glycogen. Forms complexes with glycogen phosphorylase, glycogen synthase and phosphorylase kinase which is necessary for its regulation of PP1 activity. Also interacts with EPM2A/laforin.
INTERACTION: O95278:EPM2A; NbExp=5; IntAct=EBI-2506727, EBI-2506661;
DOMAIN: The N-terminal region is required for binding to PP1, the central region is required for binding to glycogen and the C- terminal region is required for binding to glycogen phosphorylase, glycogen synthase and phosphorylase kinase (By similarity).
PTM: Ubiquitinated by NHLRC1/malin in a EPM2A/laforin-dependent manner.
SIMILARITY: Contains 1 CBM21 (carbohydrate binding type-21) domain.
SEQUENCE CAUTION: Sequence=AAD33215.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

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Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PPP1R3C
Diseases sorted by gene-association score: barre-lieou syndrome (16), water-clear cell adenoma (15), epilepsy, progressive myoclonic 2b (5), androgenic alopecia (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 94.72 RPKM in Artery - Tibial
Total median expression: 946.33 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -36.90102-0.362 Picture PostScript Text
3' UTR -385.701485-0.260 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005036 - CBM_21
IPR017434 - Pase-1_Glycogen_target-su_met

Pfam Domains:
PF03370 - Carbohydrate/starch-binding module (family 21)

ModBase Predicted Comparative 3D Structure on Q9UQK1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGDEnsemblEnsembl SGD
Protein SequenceProtein SequenceProtein SequenceProtein Sequence Protein Sequence
AlignmentAlignmentAlignmentAlignment Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004722 protein serine/threonine phosphatase activity
GO:0005515 protein binding
GO:0019888 protein phosphatase regulator activity
GO:0019903 protein phosphatase binding

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0005977 glycogen metabolic process
GO:0005978 glycogen biosynthetic process
GO:0006470 protein dephosphorylation
GO:0043666 regulation of phosphoprotein phosphatase activity

Cellular Component:
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BX537399 - Homo sapiens mRNA; cDNA DKFZp686A0786 (from clone DKFZp686A0786); complete cds.
BC012625 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 3C, mRNA (cDNA clone MGC:13673 IMAGE:4245774), complete cds.
JD270117 - Sequence 251141 from Patent EP1572962.
JD091822 - Sequence 72846 from Patent EP1572962.
JD431677 - Sequence 412701 from Patent EP1572962.
JD042852 - Sequence 23876 from Patent EP1572962.
JD450062 - Sequence 431086 from Patent EP1572962.
JD300897 - Sequence 281921 from Patent EP1572962.
JD195493 - Sequence 176517 from Patent EP1572962.
JD245850 - Sequence 226874 from Patent EP1572962.
JD540990 - Sequence 522014 from Patent EP1572962.
AK299392 - Homo sapiens cDNA FLJ53586 complete cds, highly similar to Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 3C (PPP1R3C), mRNA.
AK299398 - Homo sapiens cDNA FLJ51534 complete cds, highly similar to Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 3C (PPP1R3C), mRNA.
JD481859 - Sequence 462883 from Patent EP1572962.
JD548696 - Sequence 529720 from Patent EP1572962.
JD433516 - Sequence 414540 from Patent EP1572962.
Y18207 - Homo sapiens mRNA for protein phosphatase 1 (PPP1R5).
AF087874 - Homo sapiens phosphatase binding 1 protein PTG mRNA, complete cds.
AK313149 - Homo sapiens cDNA, FLJ93641, Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit3C (PPP1R3C), mRNA.
KJ897365 - Synthetic construct Homo sapiens clone ccsbBroadEn_06759 PPP1R3C gene, encodes complete protein.
AB528213 - Synthetic construct DNA, clone: pF1KE0172, Homo sapiens PPP1R3C gene for protein phosphatase 1, regulatory (inhibitor) subunit 3C, without stop codon, in Flexi system.
AM393091 - Synthetic construct Homo sapiens clone IMAGE:100002138 for hypothetical protein (PPP1R3C gene).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04910 - Insulin signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q9UQK1 (Reactome details) participates in the following event(s):

R-HSA-3780997 PPP1R3C binds to glycogen:GYG2:GYS2
R-HSA-3781023 PPP1R3C binds to glycogen:GYG1:GYS1
R-HSA-3781001 EPM2A dimer binds PPP1R3C:phosphoglycogen-GYG1 complex
R-HSA-3781024 GYS1 catalyzes the incorporation of phosphoglucose into glycogen-GYG1
R-HSA-3781021 EPM2A dimer binds PPP1R3C:phosphoglycogen-GYG2 complex
R-HSA-3780994 GYS2 catalyzes the incorporation of phosphoglucose into glycogen-GYG2
R-HSA-3781011 EPM2A dimer dephosphorylates phosphoglycogen-GYG2
R-HSA-3781018 EPM2A dimer dephosphorylates phosphoglycogen-GYG1
R-HSA-3322077 Glycogen synthesis
R-HSA-3785653 Myoclonic epilepsy of Lafora
R-HSA-8982491 Glycogen metabolism
R-HSA-3229121 Glycogen storage diseases
R-HSA-71387 Metabolism of carbohydrates
R-HSA-5663084 Diseases of carbohydrate metabolism
R-HSA-1430728 Metabolism
R-HSA-5668914 Diseases of metabolism
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: B2R7X0, ENST00000238994.1, ENST00000238994.2, ENST00000238994.3, ENST00000238994.4, ENST00000238994.5, NM_005398, O95686, PPP1R5, PPR3C_HUMAN, Q9UQK1, uc001kho.1, uc001kho.2, uc001kho.3, uc001kho.4, uc001kho.5
UCSC ID: ENST00000238994.6
RefSeq Accession: NM_005398
Protein: Q9UQK1 (aka PPR3C_HUMAN)
CCDS: CCDS7416.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.