This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcri... See more...

Aliases for PPM1E Gene

Aliases for PPM1E Gene

  • Protein Phosphatase, Mg2+/Mn2+ Dependent 1E 2 3 5
  • Partner Of PIX 1 2 3 4
  • CaMKP-N 2 3 4
  • POPX1 2 3 4
  • Ca(2+)/Calmodulin-Dependent Protein Kinase Phosphatase N 3 4
  • Nuclear Calmodulin-Dependent Protein Kinase Phosphatase 2 3
  • Protein Phosphatase 1E (PP2C Domain Containing) 2 3
  • Protein Phosphatase 1E 3 4
  • Partner Of PIX-Alpha 3 4
  • Partner Of PIXA 3 4
  • CaMKP-Nucleus 3 4
  • KIAA1072 2 4
  • PP2CH 2 3
  • CaMKN 3 4
  • Protein Phosphatase, Mg2+/Mn2+ Dependent, 1E 2
  • EC 3.1.3.16 4
  • PPM1E 5
  • CAMKN 4

External Ids for PPM1E Gene

Previous GeneCards Identifiers for PPM1E Gene

  • GC17P059314
  • GC17P057175
  • GC17P057307
  • GC17P054188
  • GC17P056833
  • GC17P052193

Summaries for PPM1E Gene

Entrez Gene Summary for PPM1E Gene

  • This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]

GeneCards Summary for PPM1E Gene

PPM1E (Protein Phosphatase, Mg2+/Mn2+ Dependent 1E) is a Protein Coding gene. Diseases associated with PPM1E include Osteoblastoma and Transient Global Amnesia. Gene Ontology (GO) annotations related to this gene include protein serine/threonine phosphatase activity. An important paralog of this gene is PPM1F.

UniProtKB/Swiss-Prot Summary for PPM1E Gene

  • Protein phosphatase that inactivates multifunctional CaM kinases such as CAMK4 and CAMK2 (By similarity). Dephosphorylates and inactivates PAK. May play a role in the inhibition of actin fiber stress breakdown and in morphological changes driven by TNK2/CDC42. Dephosphorylates PRKAA2 (By similarity).

Additional gene information for PPM1E Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPM1E Gene

Genomics for PPM1E Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPM1E 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 PPM1E on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPM1E

Top Transcription factor binding sites by QIAGEN in the PPM1E gene promoter:
  • Egr-2
  • HSF2
  • POU2F1
  • POU2F1a
  • POU2F1b
  • SRY
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT3

Genomic Locations for PPM1E Gene

Genomic Locations for PPM1E Gene
chr17:58,755,854-58,985,617
(GRCh38/hg38)
Size:
229,764 bases
Orientation:
Plus strand
chr17:56,833,230-57,062,537
(GRCh37/hg19)
Size:
229,308 bases
Orientation:
Plus strand

Genomic View for PPM1E Gene

Genes around PPM1E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPM1E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPM1E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPM1E Gene

Proteins for PPM1E Gene

  • Protein details for PPM1E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WY54-PPM1E_HUMAN
    Recommended name:
    Protein phosphatase 1E
    Protein Accession:
    Q8WY54
    Secondary Accessions:
    • A7E2X1
    • Q68DW1
    • Q7LAF3
    • Q9UPT0

    Protein attributes for PPM1E Gene

    Size:
    755 amino acids
    Molecular mass:
    83952 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Heterotrimer. Interacts with PAX1 and ARHGEF6 (or ARHGEF7).
    SequenceCaution:
    • Sequence=AAF70325.1; Type=Miscellaneous discrepancy; Note=Contains a 27 bp insertion which does not match the genome.; Evidence={ECO:0000305}; Sequence=BAA83024.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for PPM1E Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPM1E Gene

Post-translational modifications for PPM1E Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPM1E Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PPM1E Gene

Domains & Families for PPM1E Gene

Gene Families for PPM1E Gene

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

Protein Domains for PPM1E Gene

InterPro:
Blocks:
  • Protein phosphatase 2C subfamily
ProtoNet:

Suggested Antigen Peptide Sequences for PPM1E Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ76651, highly similar to Homo sapiens partner of PIX 1 (POPX1) mRNA (A7E2X1_HUMAN)
  • Partner of PIX-alpha (PPM1E_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WY54

UniProtKB/Swiss-Prot:

PPM1E_HUMAN :
  • Belongs to the PP2C family.
Family:
  • Belongs to the PP2C family.
genes like me logo Genes that share domains with PPM1E: view

Function for PPM1E Gene

Molecular function for PPM1E Gene

UniProtKB/Swiss-Prot Function:
Protein phosphatase that inactivates multifunctional CaM kinases such as CAMK4 and CAMK2 (By similarity). Dephosphorylates and inactivates PAK. May play a role in the inhibition of actin fiber stress breakdown and in morphological changes driven by TNK2/CDC42. Dephosphorylates PRKAA2 (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16;.

Enzyme Numbers (IUBMB) for PPM1E Gene

Phenotypes From GWAS Catalog for PPM1E Gene

Gene Ontology (GO) - Molecular Function for PPM1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004722 protein serine/threonine phosphatase activity IDA 20801214
GO:0004724 magnesium-dependent protein serine/threonine phosphatase activity IBA 21873635
GO:0005515 protein binding IPI 11864573
genes like me logo Genes that share ontologies with PPM1E: view
genes like me logo Genes that share phenotypes with PPM1E: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPM1E

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPM1E Gene

Localization for PPM1E Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPM1E Gene

Nucleus. Cytoplasm. Note=A truncated form, major form, with the C-terminal part missing, is mostly found in the cytoplasm and a little in the nucleus. The full-length, minor form, is found in the nucleus. {ECO:0000269 PubMed:15496589, ECO:0000269 PubMed:16269004}.

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 PPM1E gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 3
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PPM1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with PPM1E: view

Pathways & Interactions for PPM1E Gene

PathCards logo

SuperPathways for PPM1E Gene

No Data Available

SIGNOR curated interactions for PPM1E Gene

Inactivates:

Gene Ontology (GO) - Biological Process for PPM1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006469 negative regulation of protein kinase activity IBA,IDA 11864573
GO:0006470 protein dephosphorylation IEA --
GO:0035690 cellular response to drug IDA 20801214
GO:0035970 peptidyl-threonine dephosphorylation IDA 20801214
GO:0051496 positive regulation of stress fiber assembly IDA 11864573
genes like me logo Genes that share ontologies with PPM1E: view

No data available for Pathways by source for PPM1E Gene

Drugs & Compounds for PPM1E Gene

(5) Drugs for PPM1E Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Manganese Approved Nutra 56
Calcium Nutra 6556

(1) Additional Compounds for PPM1E Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with PPM1E: view

Transcripts for PPM1E Gene

mRNA/cDNA for PPM1E Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
1 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 PPM1E

Alternative Splicing Database (ASD) splice patterns (SP) for PPM1E Gene

No ASD Table

Relevant External Links for PPM1E Gene

GeneLoc Exon Structure for
PPM1E

Expression for PPM1E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPM1E Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPM1E Gene

This gene is overexpressed in Testis (x8.7), Brain - Hippocampus (x4.9), Brain - Frontal Cortex (BA9) (x4.7), Brain - Anterior cingulate cortex (BA24) (x4.6), and Brain - Cerebellar Hemisphere (x4.5).

Protein differential expression in normal tissues from HIPED for PPM1E Gene

This gene is overexpressed in Fetal Brain (33.2), Frontal cortex (11.2), Retina (9.2), and Brain (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPM1E Gene



Protein tissue co-expression partners for PPM1E Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPM1E

SOURCE GeneReport for Unigene cluster for PPM1E Gene:

Hs.245044

Evidence on tissue expression from TISSUES for PPM1E Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with PPM1E: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPM1E Gene

Orthologs for PPM1E Gene

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

Orthologs for PPM1E Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPM1E 30 31
  • 96.93 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPM1E 30 31
  • 91.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPM1E 30 31
  • 91.45 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppm1e 30
  • 89.05 (n)
Mouse
(Mus musculus)
Mammalia Ppm1e 30 17 31
  • 87.87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PPM1E 31
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPM1E 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PPM1E 30 31
  • 76.36 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPM1E 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ppm1e 30
  • 69.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4149 30
Zebrafish
(Danio rerio)
Actinopterygii ppm1e 30 31
  • 69.82 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG10376 31
  • 31 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea fem-2 31
  • 22 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PTC1 31
  • 32 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8295 30
Species where no ortholog for PPM1E 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)
  • 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 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 PPM1E Gene

ENSEMBL:
Gene Tree for PPM1E (if available)
TreeFam:
Gene Tree for PPM1E (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPM1E: view image

Paralogs for PPM1E Gene

(1) SIMAP similar genes for PPM1E Gene using alignment to 2 proteins:

  • PPM1E_HUMAN
  • A7E2X1_HUMAN
genes like me logo Genes that share paralogs with PPM1E: view

Variants for PPM1E Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PPM1E Gene

PPM1E_HUMAN-Q8WY54
The poly-Pro-Glu stretch is polymorphic.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPM1E Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
VAR_036518 A breast cancer sample p.Leu222Ser
VAR_036519 A breast cancer sample p.Arg311Gly

Additional dbSNP identifiers (rs#s) for PPM1E Gene

Structural Variations from Database of Genomic Variants (DGV) for PPM1E Gene

Variant ID Type Subtype PubMed ID
dgv3270n100 CNV gain 25217958
dgv4279n106 CNV deletion 24896259
esv1008894 CNV deletion 20482838
esv2662399 CNV deletion 23128226
esv2671869 CNV deletion 23128226
esv2716080 CNV deletion 23290073
esv3559209 CNV deletion 23714750
esv3582850 CNV loss 25503493
esv3640894 CNV loss 21293372
esv3640895 CNV loss 21293372
esv3640896 CNV loss 21293372
esv3640897 CNV loss 21293372
esv3640898 CNV loss 21293372
nsv1057312 CNV gain 25217958
nsv1065063 CNV gain 25217958
nsv477646 CNV novel sequence insertion 20440878
nsv510719 CNV deletion 20534489
nsv828067 CNV loss 20364138
nsv833498 CNV loss 17160897
nsv955396 CNV deletion 24416366

Variation tolerance for PPM1E Gene

Residual Variation Intolerance Score: 21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.80; 94.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPM1E Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPM1E

SNP Genotyping and Copy Number Assay Products

Disorders for PPM1E Gene

MalaCards: The human disease database

(2) MalaCards diseases for PPM1E Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
osteoblastoma
transient global amnesia
  • amnesia, transient global
- elite association - COSMIC cancer census association via MalaCards
Search PPM1E in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PPM1E

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PPM1E: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPM1E Gene

Publications for PPM1E Gene

  1. The p21-activated kinase PAK is negatively regulated by POPX1 and POPX2, a pair of serine/threonine phosphatases of the PP2C family. (PMID: 11864573) Koh CG … Lim L (Current biology : CB 2002) 2 3 4 23
  2. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
  3. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. (PMID: 17903297) Seshadri S … Wolf PA (BMC medical genetics 2007) 3 41
  4. Identification and characterization of nuclear localization signals of CaMKP-N. (PMID: 15496589) Takeuchi M … Fujisawa H (Journal of biochemistry 2004) 3 4
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for PPM1E Gene

Sources for PPM1E Gene