This gene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes of the young. Alternate splicing results in multiple transcript va... See more...

Aliases for PPP1R3B Gene

Aliases for PPP1R3B Gene

  • Protein Phosphatase 1 Regulatory Subunit 3B 2 3 4 5
  • PP1 Subunit R4 2 3 4
  • Hepatic Glycogen-Targeting Protein Phosphatase 1 Regulatory Subunit GL 3 4
  • Protein Phosphatase 1, Regulatory (Inhibitor) Subunit 3B 2 3
  • Protein Phosphatase 1 Regulatory Subunit 4 3 4
  • Hepatic Glycogen-Targeting Subunit, G(L) 2 3
  • PPP1R4 3 4
  • PTG 3 4
  • Protein Phosphatase 1, Regulatory Subunit 3B 2
  • Protein Phosphatase 1 Subunit GL 4
  • GL 3

External Ids for PPP1R3B Gene

Previous GeneCards Identifiers for PPP1R3B Gene

  • GC08M008912
  • GC08M009032
  • GC08M007918
  • GC08M008993

Summaries for PPP1R3B Gene

Entrez Gene Summary for PPP1R3B Gene

  • This gene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes of the young. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jan 2011]

GeneCards Summary for PPP1R3B Gene

PPP1R3B (Protein Phosphatase 1 Regulatory Subunit 3B) is a Protein Coding gene. Diseases associated with PPP1R3B include Mental Retardation, X-Linked, Syndromic 13 and Maturity-Onset Diabetes Of The Young. Among its related pathways are ERK Signaling and Beta-Adrenergic Signaling. Gene Ontology (GO) annotations related to this gene include enzyme binding and protein phosphatase regulator activity. An important paralog of this gene is PPP1R3C.

UniProtKB/Swiss-Prot Summary for PPP1R3B Gene

  • Acts as a glycogen-targeting subunit for phosphatase PP1. Facilitates interaction of the PP1 with enzymes of the glycogen metabolism and regulates its activity. Suppresses the rate at which PP1 dephosphorylates (inactivates) glycogen phosphorylase and enhances the rate at which it activates glycogen synthase and therefore limits glycogen breakdown. Its activity is inhibited by PYGL, resulting in inhibition of the glycogen synthase and glycogen phosphorylase phosphatase activities of PP1. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in hepatocytes (By similarity).

Additional gene information for PPP1R3B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP1R3B Gene

Genomics for PPP1R3B Gene

GeneHancer (GH) Regulatory Elements for PPP1R3B Gene

Promoters and enhancers for PPP1R3B 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 PPP1R3B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP1R3B

Top Transcription factor binding sites by QIAGEN in the PPP1R3B gene promoter:
  • AML1a
  • MyoD
  • RSRFC4
  • Sox9
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2
  • XBP-1

Genomic Locations for PPP1R3B Gene

Genomic Locations for PPP1R3B Gene
chr8:9,136,254-9,151,642
(GRCh38/hg38)
Size:
15,389 bases
Orientation:
Minus strand
chr8:8,993,764-9,009,152
(GRCh37/hg19)
Size:
15,389 bases
Orientation:
Minus strand

Genomic View for PPP1R3B Gene

Genes around PPP1R3B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1R3B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R3B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP1R3B Gene

Proteins for PPP1R3B Gene

  • Protein details for PPP1R3B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XI6-PPR3B_HUMAN
    Recommended name:
    Protein phosphatase 1 regulatory subunit 3B
    Protein Accession:
    Q86XI6
    Secondary Accessions:
    • B3KTV3
    • Q9H812

    Protein attributes for PPP1R3B Gene

    Size:
    285 amino acids
    Molecular mass:
    32695 Da
    Quaternary structure:
    • Interacts with glycogen, PPP1CC catalytic subunit of PP1 and PYGL. Associates with glycogen particles. Forms complexes with debranching enzyme, glycogen phosphorylase, glycogen synthase and phosphorylase kinase which is necessary for its regulation of PP1 activity (By similarity).

    Three dimensional structures from OCA and Proteopedia for PPP1R3B Gene

neXtProt entry for PPP1R3B Gene

Post-translational modifications for PPP1R3B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPP1R3B Gene

No data available for DME Specific Peptides for PPP1R3B Gene

Domains & Families for PPP1R3B Gene

Gene Families for PPP1R3B Gene

Protein Domains for PPP1R3B Gene

Blocks:
  • Putative phosphatase regulatory subunit
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PPP1R3B Gene

GenScript: Design optimal peptide antigens:
  • Protein phosphatase 1 subunit GL (PPR3B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86XI6

UniProtKB/Swiss-Prot:

PPR3B_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 PYGL.
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 PYGL.
genes like me logo Genes that share domains with PPP1R3B: view

Function for PPP1R3B Gene

Molecular function for PPP1R3B Gene

UniProtKB/Swiss-Prot Function:
Acts as a glycogen-targeting subunit for phosphatase PP1. Facilitates interaction of the PP1 with enzymes of the glycogen metabolism and regulates its activity. Suppresses the rate at which PP1 dephosphorylates (inactivates) glycogen phosphorylase and enhances the rate at which it activates glycogen synthase and therefore limits glycogen breakdown. Its activity is inhibited by PYGL, resulting in inhibition of the glycogen synthase and glycogen phosphorylase phosphatase activities of PP1. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in hepatocytes (By similarity).

Phenotypes From GWAS Catalog for PPP1R3B Gene

Gene Ontology (GO) - Molecular Function for PPP1R3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0005515 protein binding IPI,IEA 15231748
GO:0019888 protein phosphatase regulator activity IEA --
GO:0019899 enzyme binding IEA --
GO:0050196 [phosphorylase] phosphatase activity IEA --
genes like me logo Genes that share ontologies with PPP1R3B: view
genes like me logo Genes that share phenotypes with PPP1R3B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R3B

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPP1R3B Gene

Localization for PPP1R3B 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 PPP1R3B gene
Compartment Confidence
cytosol 4
extracellular 2
mitochondrion 2
nucleus 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPP1R3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000164 protein phosphatase type 1 complex IEA --
GO:0042587 glycogen granule IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with PPP1R3B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PPP1R3B Gene

Pathways & Interactions for PPP1R3B Gene

PathCards logo

SuperPathways for PPP1R3B 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 PPP1R3B: view

Pathways by source for PPP1R3B Gene

2 KEGG pathways for PPP1R3B Gene
1 Tocris pathway for PPP1R3B Gene
14 Qiagen pathways for PPP1R3B 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 PPP1R3B 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 --
GO:0005981 regulation of glycogen catabolic process IDA 22225877
GO:0006470 protein dephosphorylation IEA --
genes like me logo Genes that share ontologies with PPP1R3B: view

No data available for SIGNOR curated interactions for PPP1R3B Gene

Drugs & Compounds for PPP1R3B Gene

(1) Additional Compounds for PPP1R3B 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 PPP1R3B: view

Transcripts for PPP1R3B Gene

mRNA/cDNA for PPP1R3B Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R3B

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R3B Gene

No ASD Table

Relevant External Links for PPP1R3B Gene

GeneLoc Exon Structure for
PPP1R3B

Expression for PPP1R3B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPP1R3B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPP1R3B Gene

This gene is overexpressed in Whole Blood (x6.0) and Muscle - Skeletal (x4.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP1R3B

SOURCE GeneReport for Unigene cluster for PPP1R3B Gene:

Hs.458513

mRNA Expression by UniProt/SwissProt for PPP1R3B Gene:

Q86XI6-PPR3B_HUMAN
Tissue specificity: Highly expressed in the liver and, at lower levels, in skeletal muscle, including in vastus lateralis, gastrocnemius and soleus (at protein level). Highest mRNA levels are observed in skeletal muscle, and only moderate levels in liver and heart. Weak expression in placenta and lung.

Evidence on tissue expression from TISSUES for PPP1R3B Gene

  • Liver(4.6)
  • Skin(4.3)
  • Thyroid gland(3)
  • Muscle(2.6)
genes like me logo Genes that share expression patterns with PPP1R3B: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP1R3B Gene

Orthologs for PPP1R3B Gene

This gene was present in the common ancestor of animals.

Orthologs for PPP1R3B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPP1R3B 31 30
  • 99.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ppp1r3b 17 31 30
  • 86.27 (n)
cow
(Bos Taurus)
Mammalia PPP1R3B 31 30
  • 86.27 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PPP1R3B 31 30
  • 85.73 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppp1r3b 30
  • 85.21 (n)
oppossum
(Monodelphis domestica)
Mammalia PPP1R3B 31
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 67 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves PPP1R3B 31 30
  • 71.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPP1R3B 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp1r3b 30
  • 62.98 (n)
zebrafish
(Danio rerio)
Actinopterygii ppp1r3b 31 30
  • 58.67 (n)
OneToOne
Dr.4453 30
fruit fly
(Drosophila melanogaster)
Insecta CG9238 31
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea H18N23.2 31 30
  • 43.26 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 27 (a)
OneToMany
Species where no ortholog for PPP1R3B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 PPP1R3B Gene

ENSEMBL:
Gene Tree for PPP1R3B (if available)
TreeFam:
Gene Tree for PPP1R3B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP1R3B: view image

Paralogs for PPP1R3B Gene

Paralogs for PPP1R3B Gene

(1) SIMAP similar genes for PPP1R3B Gene using alignment to 1 proteins:

  • PPR3B_HUMAN
genes like me logo Genes that share paralogs with PPP1R3B: view

Variants for PPP1R3B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPP1R3B Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs984779373 Uncertain Significance: not provided 9,141,134(-) G/A MISSENSE_VARIANT
rs3748140 - p.Gly48Glu

Additional dbSNP identifiers (rs#s) for PPP1R3B Gene

Structural Variations from Database of Genomic Variants (DGV) for PPP1R3B Gene

Variant ID Type Subtype PubMed ID
dgv1371e214 CNV gain 21293372
dgv1372e214 CNV loss 21293372
esv2660363 CNV deletion 23128226
esv3616157 CNV loss 21293372
nsv436801 CNV insertion 17901297
nsv610206 CNV loss 21841781
nsv824529 CNV gain 20364138

Variation tolerance for PPP1R3B Gene

Residual Variation Intolerance Score: 72.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.80; 66.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP1R3B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1R3B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R3B Gene

Disorders for PPP1R3B Gene

MalaCards: The human disease database

(2) MalaCards diseases for PPP1R3B Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPP1R3B

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 PPP1R3B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP1R3B Gene

Publications for PPP1R3B Gene

  1. Expression and glycogenic effect of glycogen-targeting protein phosphatase 1 regulatory subunit GL in cultured human muscle. (PMID: 17555403) Montori-Grau M … Gómez-Foix AM (The Biochemical journal 2007) 2 3 4 23 54
  2. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers JC … Kooner JS (Nature genetics 2011) 3 41 54
  3. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PMID: 21347282) Lettre G … Boerwinkle E (PLoS genetics 2011) 3 41 54
  4. Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. (PMID: 21300955) Dehghan A … Chasman DI (Circulation 2011) 3 41 54
  5. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich TM … Kathiresan S (Nature 2010) 3 41 54

Products for PPP1R3B Gene

  • Biorbyt antibodies for PPP1R3B

Sources for PPP1R3B Gene