Aliases for PPP1R3E Gene

Aliases for PPP1R3E Gene

  • Protein Phosphatase 1 Regulatory Subunit 3E 2 3 4 5
  • Protein Phosphatase 1, Regulatory (Inhibitor) Subunit 3E 2 3
  • Protein Phosphatase 1, Regulatory Subunit 3E 2
  • FLJ00089 2
  • PPP1R3E 5

External Ids for PPP1R3E Gene

Previous GeneCards Identifiers for PPP1R3E Gene

  • GC00U991022
  • GC14M021756
  • GC14M021757
  • GC14M022834
  • GC14M023765
  • GC14M003881

Summaries for PPP1R3E Gene

GeneCards Summary for PPP1R3E Gene

PPP1R3E (Protein Phosphatase 1 Regulatory Subunit 3E) is a Protein Coding gene. Diseases associated with PPP1R3E include Glycogen Storage Disease Vi and Myoclonic Epilepsy Of Lafora. Among its related pathways are Insulin resistance and mTOR Pathway. An important paralog of this gene is PPP1R3D.

UniProtKB/Swiss-Prot Summary for PPP1R3E Gene

  • Acts as a glycogen-targeting subunit for PP1. PP1 is involved in glycogen metabolism and contributes to the activation of glycogen synthase leading to an increase in glycogen synthesis.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP1R3E Gene

Genomics for PPP1R3E Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPP1R3E 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
GH14J023297 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +2.1 2077 5.6 BCLAF1 ZNF207 NCOR1 IKZF1 ZNF600 MYC SSRP1 ZNF580 ZNF592 ZMYM3 HOMEZ BCL2L2 PPP1R3E lnc-HOMEZ-1 piR-34277 ACIN1 NGDN RNA5SP383 RNF31 RBM23
GH14J023378 Enhancer 1.2 VISTA Ensembl ENCODE 10.4 -77.2 -77181 3.2 ZNF654 NFIC MXD4 CTCF REST TRIM22 HOMEZ KLF7 THAP11 SMAD4 MYH6 SLC22A17 MIR208B PPP1R3E BCL2L2 HOMEZ DHRS4-AS1 CMTM5 HSALNG0100037
GH14J023328 Enhancer 0.9 Ensembl ENCODE 11.2 -25.4 -25368 0.9 ZNF654 SSRP1 ATF3 POLR2A CHD4 CTCF REST TRIM22 ARNT RAD21 SLC22A17 EFS CMTM5 PPP1R3E HOMEZ BCL2L2 MIR208A IL25 MYH6 MIR208B
GH14J023453 Enhancer 1.1 Ensembl ENCODE 9.7 -151.6 -151573 1.9 NCOR1 IKZF1 ZNF592 NFIC MNT HOMEZ ARNT NBN SMAD4 ZNF511 MYH6 MIR208B SLC22A17 MIR208A ZFHX2-AS1 ZFHX2 BCL2L2 CMTM5 IL25 HOMEZ
GH14J023250 Enhancer 0.8 Ensembl ENCODE 11.3 +50.8 50758 4.2 CEBPA POLR2A CEBPB YY1 JUND YBX1 ATF4 ATF2 SP1 JUN BCL2L2 HOMEZ PPP1R3E CMTM5 CEBPE IL25 RNF212B SLC7A8 SLC22A17 MYH6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPP1R3E on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP1R3E

Top Transcription factor binding sites by QIAGEN in the PPP1R3E gene promoter:
  • c-Ets-1
  • E2F
  • E2F-1
  • E2F-2
  • MyoD
  • Sp1
  • STAT1

Genomic Locations for PPP1R3E Gene

Latest Assembly
chr14:23,295,652-23,302,859
(GRCh38/hg38)
Size:
7,208 bases
Orientation:
Minus strand

Previous Assembly
chr14:23,764,861-23,772,068
(GRCh37/hg19 by Entrez Gene)
Size:
7,208 bases
Orientation:
Minus strand

chr14:23,764,852-23,772,057
(GRCh37/hg19 by Ensembl)
Size:
7,206 bases
Orientation:
Minus strand

Genomic View for PPP1R3E Gene

Genes around PPP1R3E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1R3E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R3E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP1R3E Gene

Proteins for PPP1R3E Gene

  • Protein details for PPP1R3E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H7J1-PPR3E_HUMAN
    Recommended name:
    Protein phosphatase 1 regulatory subunit 3E
    Protein Accession:
    Q9H7J1
    Secondary Accessions:
    • D3DS47

    Protein attributes for PPP1R3E Gene

    Size:
    279 amino acids
    Molecular mass:
    30644 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15779.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for PPP1R3E Gene

Post-translational modifications for PPP1R3E Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPP1R3E Gene

No data available for DME Specific Peptides for PPP1R3E Gene

Domains & Families for PPP1R3E Gene

Gene Families for PPP1R3E Gene

Protein Domains for PPP1R3E Gene

InterPro:
Blocks:
  • Putative phosphatase regulatory subunit

Suggested Antigen Peptide Sequences for PPP1R3E Gene

GenScript: Design optimal peptide antigens:
  • Protein phosphatase 1 regulatory subunit 3E (PPR3E_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H7J1

UniProtKB/Swiss-Prot:

PPR3E_HUMAN :
  • The CBM21 domain is known to be involved in the localization to glycogen and is characteristic of some regulatory subunit of phosphatase complexes.
Domain:
  • The CBM21 domain is known to be involved in the localization to glycogen and is characteristic of some regulatory subunit of phosphatase complexes.
genes like me logo Genes that share domains with PPP1R3E: view

Function for PPP1R3E Gene

Molecular function for PPP1R3E Gene

UniProtKB/Swiss-Prot Function:
Acts as a glycogen-targeting subunit for PP1. PP1 is involved in glycogen metabolism and contributes to the activation of glycogen synthase leading to an increase in glycogen synthesis.

Phenotypes From GWAS Catalog for PPP1R3E Gene

Gene Ontology (GO) - Molecular Function for PPP1R3E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0008157 protein phosphatase 1 binding IBA 21873635
GO:0050196 [phosphorylase] phosphatase activity ISS 15752363
GO:2001069 glycogen binding IBA 21873635
genes like me logo Genes that share ontologies with PPP1R3E: view
genes like me logo Genes that share phenotypes with PPP1R3E: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R3E

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPP1R3E Gene

Localization for PPP1R3E 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 PPP1R3E gene
Compartment Confidence
extracellular 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (2)
  • Mitochondria (2)
  • Mitotic spindle (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPP1R3E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000164 protein phosphatase type 1 complex IBA 21873635
GO:0042587 glycogen granule ISS 15752363
genes like me logo Genes that share ontologies with PPP1R3E: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PPP1R3E Gene

Pathways & Interactions for PPP1R3E Gene

genes like me logo Genes that share pathways with PPP1R3E: view

Pathways by source for PPP1R3E Gene

2 KEGG pathways for PPP1R3E Gene
1 Tocris pathway for PPP1R3E Gene

Interacting Proteins for PPP1R3E Gene

Gene Ontology (GO) - Biological Process for PPP1R3E Gene

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 IBA 21873635
GO:0006470 protein dephosphorylation IEA --
GO:0045725 positive regulation of glycogen biosynthetic process ISS 15752363
genes like me logo Genes that share ontologies with PPP1R3E: view

No data available for SIGNOR curated interactions for PPP1R3E Gene

Drugs & Compounds for PPP1R3E Gene

No Compound Related Data Available

Transcripts for PPP1R3E Gene

mRNA/cDNA for PPP1R3E Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R3E

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R3E Gene

No ASD Table

Relevant External Links for PPP1R3E Gene

GeneLoc Exon Structure for
PPP1R3E

Expression for PPP1R3E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPP1R3E Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPP1R3E Gene

This gene is overexpressed in Peripheral blood mononuclear cells (57.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPP1R3E Gene



Protein tissue co-expression partners for PPP1R3E Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP1R3E

SOURCE GeneReport for Unigene cluster for PPP1R3E Gene:

Hs.601513

mRNA Expression by UniProt/SwissProt for PPP1R3E Gene:

Q9H7J1-PPR3E_HUMAN
Tissue specificity: Expressed in skeletal muscle and heart with barely detectable levels in liver.

Evidence on tissue expression from TISSUES for PPP1R3E Gene

  • Liver(4.3)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with PPP1R3E: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP1R3E Gene

Orthologs for PPP1R3E Gene

This gene was present in the common ancestor of animals.

Orthologs for PPP1R3E Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPP1R3E 29 30
  • 95.92 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPP1R3E 29 30
  • 91.88 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPP1R3E 29 30
  • 89.73 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppp1r3e 29
  • 86.5 (n)
Mouse
(Mus musculus)
Mammalia Ppp1r3e 29 16 30
  • 84.95 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PPP1R3E 30
  • 78 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPP1R3E 30
  • 46 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ppp1r3e 29
  • 48.74 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:77112 30
  • 21 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Gbs-76A 30
  • 11 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea CC8.2 30
  • 18 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.50 30
  • 15 (a)
OneToMany
Species where no ortholog for PPP1R3E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 PPP1R3E Gene

ENSEMBL:
Gene Tree for PPP1R3E (if available)
TreeFam:
Gene Tree for PPP1R3E (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP1R3E: view image
Alliance of Genome Resources:
Additional Orthologs for PPP1R3E

Paralogs for PPP1R3E Gene

Paralogs for PPP1R3E Gene

genes like me logo Genes that share paralogs with PPP1R3E: view

Variants for PPP1R3E Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PPP1R3E Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for PPP1R3E Gene

Gene Damage Index Score: 2.56; 44.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP1R3E Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1R3E
Leiden Open Variation Database (LOVD)
PPP1R3E

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for PPP1R3E Gene

Disorders for PPP1R3E Gene

MalaCards: The human disease database

(3) MalaCards diseases for PPP1R3E Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPP1R3E

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PPP1R3E: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP1R3E Gene

Publications for PPP1R3E Gene

  1. A novel glycogen-targeting subunit of protein phosphatase 1 that is regulated by insulin and shows differential tissue distribution in humans and rodents. (PMID: 15752363) Munro S … Cohen PT (The FEBS journal 2005) 2 3 4
  2. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 40
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Regulator-driven functional diversification of protein phosphatase-1 in eukaryotic evolution. (PMID: 11948623) Ceulemans H … Bollen M (BioEssays : news and reviews in molecular, cellular and developmental biology 2002) 2 3
  5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3

Products for PPP1R3E Gene

Sources for PPP1R3E Gene