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Aliases for PPP1R3C Gene

Aliases for PPP1R3C Gene

  • Protein Phosphatase 1 Regulatory Subunit 3C 2 3 3 5
  • Protein Targeting To Glycogen 2 3 4
  • Protein Phosphatase 1, Regulatory (Inhibitor) Subunit 3C 2 3
  • Phosphatase 1, Regulatory Inhibitor Subunit 5 2 3
  • Protein Phosphatase 1 Regulatory Subunit 5 3 4
  • PP1 Subunit R5 3 4
  • PPP1R5 3 4
  • PTG 3 4
  • Protein Phosphatase 1, Regulatory Subunit 3C 2

External Ids for PPP1R3C Gene

Previous HGNC Symbols for PPP1R3C Gene

  • PPP1R5

Previous GeneCards Identifiers for PPP1R3C Gene

  • GC10M092269
  • GC10M092609
  • GC10M093519
  • GC10M093052
  • GC10M093036
  • GC10M093378
  • GC10M087016

Summaries for PPP1R3C Gene

Entrez Gene Summary for PPP1R3C Gene

  • 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]

GeneCards Summary for PPP1R3C Gene

PPP1R3C (Protein Phosphatase 1 Regulatory Subunit 3C) is a Protein Coding gene. Diseases associated with PPP1R3C include Water-Clear Cell Adenoma and Myoclonic Epilepsy Of Lafora. Among its related pathways are Diseases of carbohydrate metabolism and Regulation of lipid metabolism Insulin signaling-generic cascades. 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.

UniProtKB/Swiss-Prot for PPP1R3C Gene

  • 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.

Gene Wiki entry for PPP1R3C Gene

Additional gene information for PPP1R3C Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP1R3C Gene

Genomics for PPP1R3C Gene

GeneHancer (GH) Regulatory Elements for PPP1R3C Gene

Promoters and enhancers for PPP1R3C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J091629 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 657.9 +1.3 1314 4.7 FOXA2 PKNOX1 CLOCK MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 PPP1R3C TNKS2-AS1 HECTD2 TNKS2 HECTD2-AS1
GH10J091634 Enhancer 0.4 ENCODE dbSUPER 650.7 -1.2 -1216 0.2 PPP1R3C GC10M091667
GH10J091607 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 23.6 +24.3 24332 2.6 PKNOX1 SMAD1 ARNT DMAP1 YY1 POLR2B ZNF766 ZNF416 DEK MCM3 HECTD2 RPP30 BTAF1 PPP1R3C FGFBP3 TNKS2-AS1 MARK2P9 TNKS2 HECTD2-AS1 LOC105378433
GH10J091610 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 24.6 +20.5 20512 4.7 ATF1 SIN3A ELK1 RCOR1 FOS ELK4 SMARCC1 SMAD5 USF2 CEBPB HECTD2-AS1 PPP1R3C HECTD2 TNKS2 TNKS2-AS1
GH10J091602 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 21.3 +28.6 28629 4 FEZF1 NFXL1 ZNF280A CBX5 FOS EGR2 RXRA CEBPB ZEB2 SP1 PPP1R3C BTAF1 TNKS2 HECTD2 HECTD2-AS1 LOC105378433
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPP1R3C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPP1R3C gene promoter:
  • ZIC2
  • Pax-5
  • GCNF-2
  • GCNF-1
  • GCNF
  • AML1a
  • E4BP4
  • E47
  • Hand1
  • FOXI1

Genomic Locations for PPP1R3C Gene

Genomic Locations for PPP1R3C Gene
chr10:91,628,440-91,633,101
(GRCh38/hg38)
Size:
4,662 bases
Orientation:
Minus strand
chr10:93,388,199-93,392,858
(GRCh37/hg19)
Size:
4,660 bases
Orientation:
Minus strand

Genomic View for PPP1R3C Gene

Genes around PPP1R3C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1R3C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R3C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP1R3C Gene

Proteins for PPP1R3C Gene

  • Protein details for PPP1R3C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQK1-PPR3C_HUMAN
    Recommended name:
    Protein phosphatase 1 regulatory subunit 3C
    Protein Accession:
    Q9UQK1
    Secondary Accessions:
    • B2R7X0
    • O95686

    Protein attributes for PPP1R3C Gene

    Size:
    317 amino acids
    Molecular mass:
    36445 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAD33215.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for PPP1R3C Gene

Post-translational modifications for PPP1R3C Gene

  • Ubiquitinated by NHLRC1/malin in a EPM2A/laforin-dependent manner.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPP1R3C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PPP1R3C Gene

Domains & Families for PPP1R3C Gene

Gene Families for PPP1R3C Gene

Protein Domains for PPP1R3C Gene

Graphical View of Domain Structure for InterPro Entry

Q9UQK1

UniProtKB/Swiss-Prot:

PPR3C_HUMAN :
  • 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.
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.
genes like me logo Genes that share domains with PPP1R3C: view

Function for PPP1R3C Gene

Molecular function for PPP1R3C Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for PPP1R3C Gene

Gene Ontology (GO) - Molecular Function for PPP1R3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004722 protein serine/threonine phosphatase activity TAS 8985175
GO:0005515 protein binding IPI 14532330
GO:0019888 protein phosphatase regulator activity IEA --
GO:0019903 protein phosphatase binding IEA,ISS --
genes like me logo Genes that share ontologies with PPP1R3C: view
genes like me logo Genes that share phenotypes with PPP1R3C: view

Animal Models for PPP1R3C Gene

MGI Knock Outs for PPP1R3C:

Animal Model Products

miRNA for PPP1R3C Gene

miRTarBase miRNAs that target PPP1R3C

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPP1R3C Gene

Localization for PPP1R3C Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPP1R3C gene
Compartment Confidence
cytosol 5
extracellular 3
cytoskeleton 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PPP1R3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PPP1R3C: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for PPP1R3C Gene

Pathways & Interactions for PPP1R3C Gene

genes like me logo Genes that share pathways with PPP1R3C: view

Gene Ontology (GO) - Biological Process for PPP1R3C Gene

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:0006470 protein dephosphorylation IEA --
GO:0043666 regulation of phosphoprotein phosphatase activity IEA --
genes like me logo Genes that share ontologies with PPP1R3C: view

No data available for SIGNOR curated interactions for PPP1R3C Gene

Drugs & Compounds for PPP1R3C Gene

(1) Additional Compounds for PPP1R3C Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glycogen
  • Animal starch
  • Liver starch
  • Lyoglycogen
  • Phytoglycogen
9005-79-2
genes like me logo Genes that share compounds with PPP1R3C: view

Transcripts for PPP1R3C Gene

mRNA/cDNA for PPP1R3C Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(173) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PPP1R3C Gene

Protein phosphatase 1, regulatory subunit 3C:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R3C Gene

No ASD Table

Relevant External Links for PPP1R3C Gene

GeneLoc Exon Structure for
PPP1R3C
ECgene alternative splicing isoforms for
PPP1R3C

Expression for PPP1R3C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPP1R3C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPP1R3C Gene

This gene is overexpressed in Muscle - Skeletal (x6.0), Artery - Tibial (x4.7), and Heart - Atrial Appendage (x4.2).

NURSA nuclear receptor signaling pathways regulating expression of PPP1R3C Gene:

PPP1R3C

SOURCE GeneReport for Unigene cluster for PPP1R3C Gene:

Hs.303090

Evidence on tissue expression from TISSUES for PPP1R3C Gene

  • Nervous system(4.8)
  • Eye(4.1)
  • Muscle(3.5)
  • Heart(2.9)
  • Liver(2.8)
  • Thyroid gland(2.5)
genes like me logo Genes that share expression patterns with PPP1R3C: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP1R3C Gene

Orthologs for PPP1R3C Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PPP1R3C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPP1R3C 34 33
  • 99.16 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PPP1R3C 34 33
  • 89.7 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ppp1r3c 16 34 33
  • 86.12 (n)
cow
(Bos Taurus)
Mammalia PPP1R3C 34 33
  • 85.59 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100910671 33
  • 84.54 (n)
oppossum
(Monodelphis domestica)
Mammalia PPP1R3C 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPP1R3C 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPP1R3C 34 33
  • 69.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPP1R3C 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp1r3c.1 33
  • 65.76 (n)
Str.11402 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.14255 33
zebrafish
(Danio rerio)
Actinopterygii ppp1r3cb 34 33
  • 60.68 (n)
OneToMany
ppp1r3ca 34
  • 44 (a)
OneToMany
zgc73259 33
fruit fly
(Drosophila melanogaster)
Insecta CG9238 34 35
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea H18N23.2 34
  • 19 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GIP2 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
OneToMany
Species where no ortholog for PPP1R3C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPP1R3C Gene

ENSEMBL:
Gene Tree for PPP1R3C (if available)
TreeFam:
Gene Tree for PPP1R3C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP1R3C: view image

Paralogs for PPP1R3C Gene

Paralogs for PPP1R3C Gene

(1) SIMAP similar genes for PPP1R3C Gene using alignment to 1 proteins:

  • PPR3C_HUMAN
genes like me logo Genes that share paralogs with PPP1R3C: view

Variants for PPP1R3C Gene

Sequence variations from dbSNP and Humsavar for PPP1R3C Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs193920921 uncertain-significance, Malignant tumor of prostate 91,630,423(-) T/C coding_sequence_variant, missense_variant
rs1000013909 -- 91,633,256(-) G/T upstream_transcript_variant
rs1000087325 -- 91,633,492(-) C/G upstream_transcript_variant
rs1001480145 -- 91,628,175(-) G/A downstream_transcript_variant
rs1002220190 -- 91,634,127(-) C/T upstream_transcript_variant

Variation tolerance for PPP1R3C Gene

Residual Variation Intolerance Score: 43.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.09; 38.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP1R3C Gene

Human Gene Mutation Database (HGMD)
PPP1R3C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1R3C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PPP1R3C Gene

Disorders for PPP1R3C Gene

MalaCards: The human disease database

(4) MalaCards diseases for PPP1R3C Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
water-clear cell adenoma
myoclonic epilepsy of lafora
  • melf
androgenic alopecia
  • androgenetic alopecia
parathyroid gland disease
  • disease of parathyroid glands
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPP1R3C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PPP1R3C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP1R3C Gene

Publications for PPP1R3C Gene

  1. Amino acid sequence of a novel protein phosphatase 1 binding protein (R5) which is related to the liver- and muscle-specific glycogen binding subunits of protein phosphatase 1. (PMID: 8985175) Doherty MJ … Cohen PT (FEBS letters 1996) 2 3 4 58
  2. A PTG variant contributes to a milder phenotype in Lafora disease. (PMID: 21738631) Guerrero R … Gómez-Garre P (PloS one 2011) 3 4 58
  3. Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG). (PMID: 18070875) Worby CA … Dixon JE (The Journal of biological chemistry 2008) 3 4 58
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  5. Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation. (PMID: 14532330) Fernández-Sánchez ME … Rodríguez de Córdoba S (Human molecular genetics 2003) 3 4 58

Products for PPP1R3C Gene

Sources for PPP1R3C Gene

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