This gene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulatory subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. Alternative spli... See more...

Aliases for PPP1R3F Gene

Aliases for PPP1R3F Gene

  • Protein Phosphatase 1 Regulatory Subunit 3F 2 3 4 5
  • Protein Phosphatase 1, Regulatory (Inhibitor) Subunit 3F 2 3
  • R3F 3 4
  • Protein Phosphatase 1, Regulatory Subunit 3F 2
  • LL0XNC01-7P3.1 3
  • PPP1R3F 5
  • HB2E 3
  • Hb2E 2

External Ids for PPP1R3F Gene

Previous GeneCards Identifiers for PPP1R3F Gene

  • GC0XP047907
  • GC0XP047365
  • GC0XP048152
  • GC0XP048882
  • GC0XP049013
  • GC0XP049126
  • GC0XP046782

Summaries for PPP1R3F Gene

Entrez Gene Summary for PPP1R3F Gene

  • This gene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulatory subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

GeneCards Summary for PPP1R3F Gene

PPP1R3F (Protein Phosphatase 1 Regulatory Subunit 3F) is a Protein Coding gene. Diseases associated with PPP1R3F include Epilepsy, Familial Adult Myoclonic, 2 and Epilepsy, Familial Adult Myoclonic, 3. Among its related pathways are Beta-Adrenergic Signaling and Apoptotic Pathways in Synovial Fibroblasts. Gene Ontology (GO) annotations related to this gene include protein phosphatase binding and glycogen binding. An important paralog of this gene is PPP1R3A.

UniProtKB/Swiss-Prot Summary for PPP1R3F Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP1R3F Gene

Genomics for PPP1R3F Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPP1R3F 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 PPP1R3F on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP1R3F

Top Transcription factor binding sites by QIAGEN in the PPP1R3F gene promoter:
  • AML1a
  • CREB
  • deltaCREB

Genomic Locations for PPP1R3F Gene

Latest Assembly
chrX:49,269,793-49,301,465
(GRCh38/hg38)
Size:
31,673 bases
Orientation:
Plus strand

Previous Assembly
chrX:49,126,256-49,144,552
(GRCh37/hg19 by Entrez Gene)
Size:
18,297 bases
Orientation:
Plus strand

chrX:49,126,306-49,157,929
(GRCh37/hg19 by Ensembl)
Size:
31,624 bases
Orientation:
Plus strand

Genomic View for PPP1R3F Gene

Genes around PPP1R3F on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1R3F Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R3F Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP1R3F Gene

Proteins for PPP1R3F Gene

  • Protein details for PPP1R3F Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZSY5-PPR3F_HUMAN
    Recommended name:
    Protein phosphatase 1 regulatory subunit 3F
    Protein Accession:
    Q6ZSY5
    Secondary Accessions:
    • A2VDJ8
    • B3KPW2
    • E9PCM3

    Protein attributes for PPP1R3F Gene

    Size:
    799 amino acids
    Molecular mass:
    82798 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI31589.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAG51824.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for PPP1R3F Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP1R3F Gene

Post-translational modifications for PPP1R3F Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PPP1R3F Gene

Domains & Families for PPP1R3F Gene

Gene Families for PPP1R3F Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PPP1R3F Gene

InterPro:
Blocks:
  • Putative phosphatase regulatory subunit

Suggested Antigen Peptide Sequences for PPP1R3F Gene

GenScript: Design optimal peptide antigens:
  • PPP1R3F protein (A2VDJ8_HUMAN)
  • Protein phosphatase 1 regulatory subunit 3F (PPR3F_HUMAN)
  • PPP1R3F protein (Q0D2I0_HUMAN)
genes like me logo Genes that share domains with PPP1R3F: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PPP1R3F Gene

Function for PPP1R3F Gene

Molecular function for PPP1R3F Gene

UniProtKB/Swiss-Prot Function:
Glycogen-targeting subunit for protein phosphatase 1 (PP1).

Phenotypes From GWAS Catalog for PPP1R3F Gene

Gene Ontology (GO) - Molecular Function for PPP1R3F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0008157 protein phosphatase 1 binding IBA 21873635
GO:0019903 protein phosphatase binding IPI 21668450
GO:2001069 glycogen binding IDA 21668450
genes like me logo Genes that share ontologies with PPP1R3F: view
genes like me logo Genes that share phenotypes with PPP1R3F: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R3F

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPP1R3F Gene

Localization for PPP1R3F Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP1R3F Gene

Membrane. Single-pass membrane protein.

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 PPP1R3F gene
Compartment Confidence
nucleus 3
plasma membrane 1
mitochondrion 1
peroxisome 1
cytosol 1
golgi apparatus 0

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PPP1R3F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000164 protein phosphatase type 1 complex IBA 21873635
GO:0016020 membrane IDA 21668450
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PPP1R3F: view

Pathways & Interactions for PPP1R3F Gene

PathCards logo

SuperPathways for PPP1R3F Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
2 Beta-Adrenergic Signaling
.37
.37
.37
.36
3 Regulation of lipid metabolism Insulin signaling-generic cascades
4 mTOR Pathway
5 GPCR Pathway
.58
genes like me logo Genes that share pathways with PPP1R3F: view

Pathways by source for PPP1R3F Gene

1 KEGG pathway for PPP1R3F Gene
1 Tocris pathway for PPP1R3F Gene
14 Qiagen pathways for PPP1R3F 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 PPP1R3F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005979 regulation of glycogen biosynthetic process IDA 21668450
GO:2000465 regulation of glycogen (starch) synthase activity IDA 21668450
genes like me logo Genes that share ontologies with PPP1R3F: view

No data available for SIGNOR curated interactions for PPP1R3F Gene

Drugs & Compounds for PPP1R3F Gene

No Compound Related Data Available

Transcripts for PPP1R3F Gene

mRNA/cDNA for PPP1R3F Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 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 PPP1R3F

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R3F Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c
SP1: - -
SP2: -
SP3:
SP4: -

Relevant External Links for PPP1R3F Gene

GeneLoc Exon Structure for
PPP1R3F

Expression for PPP1R3F Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPP1R3F Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Eye (Sensory Organs)

Protein differential expression in normal tissues from HIPED for PPP1R3F Gene

This gene is overexpressed in Frontal cortex (39.1), Retina (23.5), and Fetal Brain (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPP1R3F Gene



Protein tissue co-expression partners for PPP1R3F Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP1R3F

SOURCE GeneReport for Unigene cluster for PPP1R3F Gene:

Hs.433652

mRNA Expression by UniProt/SwissProt for PPP1R3F Gene:

Q6ZSY5-PPR3F_HUMAN
Tissue specificity: Expressed in brain, skeletal muscle and heart.

Evidence on tissue expression from TISSUES for PPP1R3F Gene

  • Nervous system(4.5)
  • Eye(2.7)
genes like me logo Genes that share expression patterns with PPP1R3F: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP1R3F Gene

Orthologs for PPP1R3F Gene

This gene was present in the common ancestor of chordates.

Orthologs for PPP1R3F Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia PPP1R3F 29 30
  • 90.72 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPP1R3F 29 30
  • 88.23 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ppp1r3f 29 16 30
  • 84.67 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PPP1R3F 30
  • 42 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPP1R3F 30
  • 35 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPP1R3F 30
  • 25 (a)
OneToOne
Species where no ortholog for PPP1R3F 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)
  • Chimpanzee (Pan troglodytes)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for PPP1R3F Gene

ENSEMBL:
Gene Tree for PPP1R3F (if available)
TreeFam:
Gene Tree for PPP1R3F (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP1R3F: view image
Alliance of Genome Resources:
Additional Orthologs for PPP1R3F

Paralogs for PPP1R3F Gene

Paralogs for PPP1R3F Gene

genes like me logo Genes that share paralogs with PPP1R3F: view

Variants for PPP1R3F Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPP1R3F Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs139746768 Benign: not provided 49,285,842(+) C/T
NM_033215.5(PPP1R3F):c.1152C>T (p.Asp384=)
SYNONYMOUS
rs180878665 Benign: not provided 49,270,520(+) C/T
NM_033215.5(PPP1R3F):c.651C>T (p.Ile217=)
SYNONYMOUS_VARIANT,INTRON
rs17148347 -- p.Phe351Ser
VAR_076266 -- p.Glu441Lys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PPP1R3F 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 PPP1R3F Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV gain+loss 17666407
nsv469734 CNV gain+loss 16826518
nsv471602 CNV gain 15918152
nsv528292 CNV gain 19592680

Variation tolerance for PPP1R3F Gene

Residual Variation Intolerance Score: 82.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.85; 58.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP1R3F Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1R3F
Leiden Open Variation Database (LOVD)
PPP1R3F

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R3F Gene

Disorders for PPP1R3F Gene

MalaCards: The human disease database

(3) MalaCards diseases for PPP1R3F Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPP1R3F

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 PPP1R3F: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP1R3F Gene

Publications for PPP1R3F Gene

  1. R3F, a novel membrane-associated glycogen targeting subunit of protein phosphatase 1 regulates glycogen synthase in astrocytoma cells in response to glucose and extracellular signals. (PMID: 21668450) Kelsall IR … Cohen PT (Journal of neurochemistry 2011) 3 4
  2. Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk. (PMID: 20398921) Suttner K … Kabesch M (The Journal of allergy and clinical immunology 2010) 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. DYRK1A regulates the recruitment of 53BP1 to the sites of DNA damage in part through interaction with RNF169. (PMID: 30773093) Menon VR … Litovchick L (Cell cycle (Georgetown, Tex.) 2019) 3

Products for PPP1R3F Gene

  • Biorbyt antibodies for PPP1R3F

Sources for PPP1R3F Gene