Phosphorylation of serine and threonine residues in proteins is a crucial step in the regulation of many cellular functions ranging from hormonal regulation to cell division and even short-term memory. The level of phosphorylation is controlled by the opposing actions of protein kinases and protein phosphatases. Protein phosphatase 1 (PP1) is 1 of 4 major serine/threonine-speci... See more...

Aliases for PPP1R3D Gene

Aliases for PPP1R3D Gene

  • Protein Phosphatase 1 Regulatory Subunit 3D 2 3 4 5
  • Protein Phosphatase 1, Regulatory (Inhibitor) Subunit 3D 2 3
  • Protein Phosphatase 1 Regulatory Subunit 6 3 4
  • Protein Phosphatase 1-Binding Subunit R6 3 4
  • PP1 Subunit R6 3 4
  • PPP1R6 3 4
  • Protein Phosphatase 1, Regulatory Subunit 6, Spinophilin 3
  • Protein Phosphatase 1, Regulatory Subunit 3D 2
  • PPP1R3D 5

External Ids for PPP1R3D Gene

Previous HGNC Symbols for PPP1R3D Gene

  • PPP1R6

Previous GeneCards Identifiers for PPP1R3D Gene

  • GC20M058242
  • GC20M058201
  • GC20M059150
  • GC20M059199
  • GC20M059197
  • GC20M057945
  • GC20M058511
  • GC20M055299

Summaries for PPP1R3D Gene

Entrez Gene Summary for PPP1R3D Gene

  • Phosphorylation of serine and threonine residues in proteins is a crucial step in the regulation of many cellular functions ranging from hormonal regulation to cell division and even short-term memory. The level of phosphorylation is controlled by the opposing actions of protein kinases and protein phosphatases. Protein phosphatase 1 (PP1) is 1 of 4 major serine/threonine-specific protein phosphatases which have been identified in eukaryotic cells. PP1 associates with various regulatory subunits that dictate its subcellular localization and modulate its substrate specificity. Several subunits that target PP1 to glycogen have been identified. This gene encodes a glycogen-targeting subunit of PP1. [provided by RefSeq, Jul 2008]

GeneCards Summary for PPP1R3D Gene

PPP1R3D (Protein Phosphatase 1 Regulatory Subunit 3D) is a Protein Coding gene. Diseases associated with PPP1R3D include Glycogen Storage Disease Vi and Glycogen Storage Disease Ixa. Among its related pathways are Beta-Adrenergic Signaling and Insulin resistance. Gene Ontology (GO) annotations related to this gene include enzyme binding and protein serine/threonine phosphatase activity. An important paralog of this gene is PPP1R3G.

UniProtKB/Swiss-Prot Summary for PPP1R3D Gene

  • Seems to act as a glycogen-targeting subunit for PP1. PP1 is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP1R3D Gene

Genomics for PPP1R3D Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPP1R3D Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPP1R3D on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP1R3D

Top Transcription factor binding sites by QIAGEN in the PPP1R3D gene promoter:
  • AhR
  • Arnt
  • CUTL1
  • E2F
  • E2F-1
  • ER-alpha
  • Olf-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for PPP1R3D Gene

Latest Assembly
chr20:59,936,663-59,940,305
(GRCh38/hg38)
Size:
3,643 bases
Orientation:
Minus strand

Previous Assembly
chr20:58,511,718-58,515,360
(GRCh37/hg19 by Entrez Gene)
Size:
3,643 bases
Orientation:
Minus strand

chr20:58,511,894-58,515,352
(GRCh37/hg19 by Ensembl)
Size:
3,459 bases
Orientation:
Minus strand

Genomic View for PPP1R3D Gene

Genes around PPP1R3D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1R3D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R3D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP1R3D Gene

Proteins for PPP1R3D Gene

  • Protein details for PPP1R3D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95685-PPR3D_HUMAN
    Recommended name:
    Protein phosphatase 1 regulatory subunit 3D
    Protein Accession:
    O95685
    Secondary Accessions:
    • Q6DK02

    Protein attributes for PPP1R3D Gene

    Size:
    299 amino acids
    Molecular mass:
    32559 Da
    Quaternary structure:
    • Interacts with PPP1CC catalytic subunit of PP1, and associates with glycogen. Interacts with EPM2A; in the presence of NHLC1/malin the interaction leads to PPP1R3D ubiquitination and autophagic degradation.

neXtProt entry for PPP1R3D Gene

Post-translational modifications for PPP1R3D Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPP1R3D Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PPP1R3D Gene

Domains & Families for PPP1R3D Gene

Gene Families for PPP1R3D Gene

Protein Domains for PPP1R3D Gene

InterPro:
Blocks:
  • Putative phosphatase regulatory subunit

Suggested Antigen Peptide Sequences for PPP1R3D Gene

GenScript: Design optimal peptide antigens:
  • Protein phosphatase 1-binding subunit R6 (PPR3D_HUMAN)
  • Protein phosphatase 1, regulatory (Inhibitor) subunit 3D (Q86X09_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95685

UniProtKB/Swiss-Prot:

PPR3D_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 PPP1R3D: view

Function for PPP1R3D Gene

Molecular function for PPP1R3D Gene

UniProtKB/Swiss-Prot Function:
Seems to act as a glycogen-targeting subunit for PP1. PP1 is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis.

Phenotypes From GWAS Catalog for PPP1R3D Gene

Gene Ontology (GO) - Molecular Function for PPP1R3D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004722 protein serine/threonine phosphatase activity TAS 9414128
GO:0005515 protein binding IPI 22321011
GO:0008157 protein phosphatase 1 binding IBA 21873635
GO:0019899 enzyme binding IEA --
genes like me logo Genes that share ontologies with PPP1R3D: view
genes like me logo Genes that share phenotypes with PPP1R3D: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R3D

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPP1R3D Gene

Localization for PPP1R3D 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 PPP1R3D gene
Compartment Confidence
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPP1R3D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000164 protein phosphatase type 1 complex IBA 21873635
GO:0042587 glycogen granule IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with PPP1R3D: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PPP1R3D Gene

Pathways & Interactions for PPP1R3D Gene

PathCards logo

SuperPathways for PPP1R3D Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
2 Beta-Adrenergic Signaling
.37
.37
.37
.36
3 Insulin resistance
4 Regulation of lipid metabolism Insulin signaling-generic cascades
5 mTOR Pathway
genes like me logo Genes that share pathways with PPP1R3D: view

Pathways by source for PPP1R3D Gene

2 KEGG pathways for PPP1R3D Gene
1 Tocris pathway for PPP1R3D Gene
14 Qiagen pathways for PPP1R3D Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Beta-Adrenergic Signaling
  • Breast Cancer Regulation by Stathmin1
  • cAMP Pathway

Gene Ontology (GO) - Biological Process for PPP1R3D 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 IEA,IBA 21873635
GO:0005981 regulation of glycogen catabolic process IEA --
GO:0006470 protein dephosphorylation IEA --
genes like me logo Genes that share ontologies with PPP1R3D: view

No data available for SIGNOR curated interactions for PPP1R3D Gene

Drugs & Compounds for PPP1R3D Gene

No Compound Related Data Available

Transcripts for PPP1R3D Gene

mRNA/cDNA for PPP1R3D Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 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 PPP1R3D

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R3D Gene

No ASD Table

Relevant External Links for PPP1R3D Gene

GeneLoc Exon Structure for
PPP1R3D

Expression for PPP1R3D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPP1R3D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPP1R3D Gene

This gene is overexpressed in Peripheral blood mononuclear cells (21.5), Breast (19.8), Bone marrow mesenchymal stem cell (10.9), and Monocytes (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPP1R3D Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP1R3D

SOURCE GeneReport for Unigene cluster for PPP1R3D Gene:

Hs.42215

mRNA Expression by UniProt/SwissProt for PPP1R3D Gene:

O95685-PPR3D_HUMAN
Tissue specificity: Expressed in all tissues tested. High expression in skeletal muscle and heart.

Evidence on tissue expression from TISSUES for PPP1R3D Gene

  • Nervous system(4.4)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with PPP1R3D: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP1R3D Gene

Orthologs for PPP1R3D Gene

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

Orthologs for PPP1R3D Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPP1R3D 29 30
  • 99 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPP1R3D 29 30
  • 89.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPP1R3D 29 30
  • 87.96 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ppp1r3d 29 16 30
  • 81.84 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppp1r3d 29
  • 81.36 (n)
Oppossum
(Monodelphis domestica)
Mammalia PPP1R3D 30
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPP1R3D 30
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PPP1R3D 29 30
  • 61.31 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPP1R3D 30
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ppp1r3d 29
  • 60.28 (n)
Zebrafish
(Danio rerio)
Actinopterygii ppp1r3da 29 30
  • 54.55 (n)
OneToMany
ppp1r3db 30
  • 37 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Gbs-76A 29 30
  • 47.89 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea CC8.2 30
  • 22 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PIG1 32
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.50 30
  • 14 (a)
OneToMany
Species where no ortholog for PPP1R3D 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)
  • 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 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 PPP1R3D Gene

ENSEMBL:
Gene Tree for PPP1R3D (if available)
TreeFam:
Gene Tree for PPP1R3D (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP1R3D: view image
Alliance of Genome Resources:
Additional Orthologs for PPP1R3D

Paralogs for PPP1R3D Gene

Paralogs for PPP1R3D Gene

genes like me logo Genes that share paralogs with PPP1R3D: view

Variants for PPP1R3D Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PPP1R3D Gene

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

Structural Variations from Database of Genomic Variants (DGV) for PPP1R3D Gene

Variant ID Type Subtype PubMed ID
dgv4336n100 CNV loss 25217958
nsv1062669 CNV loss 25217958
nsv1065994 CNV loss 25217958

Variation tolerance for PPP1R3D Gene

Residual Variation Intolerance Score: 33.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP1R3D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1R3D
Leiden Open Variation Database (LOVD)
PPP1R3D

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPP1R3D Gene

Disorders for PPP1R3D Gene

MalaCards: The human disease database

(4) MalaCards diseases for PPP1R3D Gene - From: COP

Disorder Aliases PubMed IDs
glycogen storage disease vi
  • gsd6
glycogen storage disease ixa
  • glycogen storage disease type 9a
glycogen storage disease vii
  • gsd7
myoclonic epilepsy of lafora
  • melf
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPP1R3D

genes like me logo Genes that share disorders with PPP1R3D: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP1R3D Gene

Publications for PPP1R3D Gene

  1. PPP1R6, a novel member of the family of glycogen-targetting subunits of protein phosphatase 1. (PMID: 9414128) Armstrong CG … Cohen PT (FEBS letters 1997) 2 3 4
  2. Glycogenic activity of R6, a protein phosphatase 1 regulatory subunit, is modulated by the laforin-malin complex. (PMID: 23624058) Rubio-Villena C … Sanz P (The international journal of biochemistry & cell biology 2013) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  5. Spinophilin, a novel protein phosphatase 1 binding protein localized to dendritic spines. (PMID: 9275233) Allen PB … Greengard P (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3

Products for PPP1R3D Gene

Sources for PPP1R3D Gene