This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including regulation of HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. ... See more...

Aliases for PPP4R1 Gene

Aliases for PPP4R1 Gene

  • Protein Phosphatase 4 Regulatory Subunit 1 2 3 5
  • PP4R1 2 3 4
  • Serine/Threonine-Protein Phosphatase 4 Regulatory Subunit 1 3 4
  • MEG1 3 4
  • Protein Phosphatase 4, Regulatory Subunit 1 2
  • Serine/Threonine Phosphatase 4 3
  • PP4(Rmeg) 3
  • PPP4R1 5

External Ids for PPP4R1 Gene

Previous GeneCards Identifiers for PPP4R1 Gene

  • GC18P009645
  • GC18M009603
  • GC18M009536
  • GC18M009496
  • GC18M009523
  • GC18M009510

Summaries for PPP4R1 Gene

Entrez Gene Summary for PPP4R1 Gene

  • This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including regulation of HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

GeneCards Summary for PPP4R1 Gene

PPP4R1 (Protein Phosphatase 4 Regulatory Subunit 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is PPP2R1A.

UniProtKB/Swiss-Prot Summary for PPP4R1 Gene

  • Regulatory subunit of serine/threonine-protein phosphatase 4. May play a role in regulation of cell division in renal glomeruli. The PPP4C-PPP4R1 PP4 complex may play a role in dephosphorylation and regulation of HDAC3.

Gene Wiki entry for PPP4R1 Gene

Additional gene information for PPP4R1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP4R1 Gene

Genomics for PPP4R1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPP4R1 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 PPP4R1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP4R1

Top Transcription factor binding sites by QIAGEN in the PPP4R1 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • ER-alpha
  • p53
  • Pax-4a
  • Pax-5
  • S8
  • TBP
  • TFIID

Genomic Locations for PPP4R1 Gene

Genomic Locations for PPP4R1 Gene
chr18:9,546,791-9,615,273
(GRCh38/hg38)
Size:
68,483 bases
Orientation:
Minus strand
chr18:9,546,789-9,615,238
(GRCh37/hg19)
Size:
68,450 bases
Orientation:
Minus strand

Genomic View for PPP4R1 Gene

Genes around PPP4R1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP4R1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP4R1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP4R1 Gene

Proteins for PPP4R1 Gene

  • Protein details for PPP4R1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TF05-PP4R1_HUMAN
    Recommended name:
    Serine/threonine-protein phosphatase 4 regulatory subunit 1
    Protein Accession:
    Q8TF05
    Secondary Accessions:
    • Q99774
    • Q9UNQ7

    Protein attributes for PPP4R1 Gene

    Size:
    950 amino acids
    Molecular mass:
    107004 Da
    Quaternary structure:
    • Serine/threonine-protein phosphatase 4 (PP4) occurs in different assemblies of the catalytic and one or more regulatory subunits. Component of the PP4 complex PPP4C-PPP4R1. Interacts with HDAC3.
    SequenceCaution:
    • Sequence=AAD43008.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PPP4R1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP4R1 Gene

Post-translational modifications for PPP4R1 Gene

  • Ubiquitination at Lys643, Lys730, and Lys803
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PPP4R1 Gene

Domains & Families for PPP4R1 Gene

Gene Families for PPP4R1 Gene

Protein Domains for PPP4R1 Gene

InterPro:
Blocks:
  • HEAT repeat
ProtoNet:

Suggested Antigen Peptide Sequences for PPP4R1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53307, highly similar to Serine/threonine-protein phosphatase 4 regulatory subunit 1 (B4DEZ8_HUMAN)
  • Serine/threonine-protein phosphatase 4 regulatory subunit 1 (PP4R1_HUMAN)
genes like me logo Genes that share domains with PPP4R1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PPP4R1 Gene

Function for PPP4R1 Gene

Molecular function for PPP4R1 Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of serine/threonine-protein phosphatase 4. May play a role in regulation of cell division in renal glomeruli. The PPP4C-PPP4R1 PP4 complex may play a role in dephosphorylation and regulation of HDAC3.

Phenotypes From GWAS Catalog for PPP4R1 Gene

Gene Ontology (GO) - Molecular Function for PPP4R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 contributes_to phosphoprotein phosphatase activity ISS --
GO:0004722 contributes_to protein serine/threonine phosphatase activity IBA 21873635
GO:0005515 protein binding IPI 16085932
GO:0019888 protein phosphatase regulator activity IEA,NAS 10026142
genes like me logo Genes that share ontologies with PPP4R1: view
genes like me logo Genes that share phenotypes with PPP4R1: view

Animal Model Products

CRISPR Products

miRNA for PPP4R1 Gene

miRTarBase miRNAs that target PPP4R1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP4R1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPP4R1 Gene

Localization for PPP4R1 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 PPP4R1 gene
Compartment Confidence
nucleus 3
cytosol 3
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPP4R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008287 protein serine/threonine phosphatase complex IBA 21873635
GO:0030289 protein phosphatase 4 complex IEA,ISS --
genes like me logo Genes that share ontologies with PPP4R1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PPP4R1 Gene

Pathways & Interactions for PPP4R1 Gene

PathCards logo

SuperPathways for PPP4R1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PPP4R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation ISS --
GO:0006470 protein dephosphorylation IEA --
GO:0007165 signal transduction IEA,NAS 10026142
GO:0043666 regulation of phosphoprotein phosphatase activity IEA --
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with PPP4R1: view

No data available for Pathways by source and SIGNOR curated interactions for PPP4R1 Gene

Drugs & Compounds for PPP4R1 Gene

No Compound Related Data Available

Transcripts for PPP4R1 Gene

mRNA/cDNA for PPP4R1 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
29 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 PPP4R1

Alternative Splicing Database (ASD) splice patterns (SP) for PPP4R1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^
SP1: -
SP2:
SP3:
SP4: - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - - -
SP13:
SP14: - -
SP15:

ExUns: 17a · 17b ^ 18a · 18b · 18c · 18d ^ 19a · 19b · 19c ^ 20a · 20b ^ 21a · 21b · 21c
SP1: - -
SP2: - - - -
SP3: - - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - -
SP10: - - - - - -
SP11: - -
SP12:
SP13:
SP14:
SP15:

Relevant External Links for PPP4R1 Gene

GeneLoc Exon Structure for
PPP4R1

Expression for PPP4R1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPP4R1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPP4R1 Gene

This gene is overexpressed in Bone (18.6) and Cervix (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPP4R1 Gene



Protein tissue co-expression partners for PPP4R1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP4R1

SOURCE GeneReport for Unigene cluster for PPP4R1 Gene:

Hs.743236

mRNA Expression by UniProt/SwissProt for PPP4R1 Gene:

Q8TF05-PP4R1_HUMAN
Tissue specificity: Widely expressed with high expression in cultured mesangial cells. Isoform 1 and isoform 2 are expressed in renal tissues.

Evidence on tissue expression from TISSUES for PPP4R1 Gene

  • Nervous system(4.8)
  • Lung(3.2)
  • Blood(2.3)
  • Kidney(2.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with PPP4R1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP4R1 Gene

Orthologs for PPP4R1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PPP4R1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPP4R1 30 31
  • 99.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPP4R1 30 31
  • 90.01 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ppp4r1 30 17 31
  • 84.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppp4r1 30
  • 83.77 (n)
Oppossum
(Monodelphis domestica)
Mammalia PPP4R1 31
  • 81 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PPP4R1 30 31
  • 79.05 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPP4R1 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PPP4R1 30 31
  • 77.57 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPP4R1 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ppp4r1 30
  • 72.2 (n)
Str.6036 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8324 30
Zebrafish
(Danio rerio)
Actinopterygii ppp4r1 30 31
  • 62.61 (n)
OneToMany
PPP4R1 (2 of 2) 31
  • 61 (a)
OneToMany
zgc55603 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13164 30
Worm
(Caenorhabditis elegans)
Secernentea M04C9.6a 32
  • 30 (a)
M04C9.6b 32
  • 30 (a)
ppfr-1 31
  • 15 (a)
OneToMany
Species where no ortholog for PPP4R1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for PPP4R1 Gene

ENSEMBL:
Gene Tree for PPP4R1 (if available)
TreeFam:
Gene Tree for PPP4R1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP4R1: view image

Paralogs for PPP4R1 Gene

Paralogs for PPP4R1 Gene

(1) SIMAP similar genes for PPP4R1 Gene using alignment to 10 proteins:

  • PP4R1_HUMAN
  • F8WAJ9_HUMAN
  • J3KRU1_HUMAN
  • J3KSB0_HUMAN
  • J3KSH2_HUMAN
  • J3KSS1_HUMAN
  • J3QL26_HUMAN
  • J3QLA6_HUMAN
  • J3QQV0_HUMAN
  • J3QRV2_HUMAN

Pseudogenes.org Pseudogenes for PPP4R1 Gene

genes like me logo Genes that share paralogs with PPP4R1: view

Variants for PPP4R1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPP4R1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs2306134 -. - p.Ser595Asnp.Ser593Asn
rs1056191 - p.Glu43Lys
rs329003 - p.Ile470Val

Additional dbSNP identifiers (rs#s) for PPP4R1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PPP4R1 Gene

Variant ID Type Subtype PubMed ID
esv29650 CNV loss 19812545
esv3641748 CNV loss 21293372
nsv1056407 CNV gain 25217958
nsv1072774 CNV deletion 25765185
nsv1118782 CNV deletion 24896259
nsv458024 CNV gain 19166990
nsv509683 CNV insertion 20534489
nsv576448 CNV gain 21841781
nsv833585 CNV gain+loss 17160897

Variation tolerance for PPP4R1 Gene

Residual Variation Intolerance Score: 48.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.63; 72.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP4R1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP4R1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP4R1 Gene

Disorders for PPP4R1 Gene

Additional Disease Information for PPP4R1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for PPP4R1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PPP4R1 Gene

Publications for PPP4R1 Gene

  1. Purification and identification of a novel subunit of protein serine/threonine phosphatase 4. (PMID: 10026142) Kloeker S … Wadzinski BE (The Journal of biological chemistry 1999) 2 3 4 23
  2. Cloning and characterization of a novel subunit of protein serine/threonine phosphatase 4 from mesangial cells. (PMID: 11729228) Wada T … Kurokawa K (Journal of the American Society of Nephrology : JASN 2001) 3 4 23
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. A PP4-phosphatase complex dephosphorylates gamma-H2AX generated during DNA replication. (PMID: 18614045) Chowdhury D … Lieberman J (Molecular cell 2008) 3 4
  5. Histone deacetylase 3 (HDAC3) activity is regulated by interaction with protein serine/threonine phosphatase 4. (PMID: 15805470) Zhang X … Seto E (Genes & development 2005) 3 4

Products for PPP4R1 Gene

Sources for PPP4R1 Gene